Cluster 0 (71 LocusIDs)

LocusLink	Symbol	Name	Cytoband Location	GO Terms	Domain Terms	KEGG Pathway	OMIM
103	ADAR	adenosine deaminase, RNA-specific	1q21.1-q21.2	GO:0003726: double-stranded RNA adenosine deaminase activity GO:0005634: nucleus GO:0006960: antimicrobial humoral response (sensu Invertebrata)	KOG2777: tRNA-specific adenosine deaminase 1 [RNA processing and modification] pfam02295: Adenosine deaminase z-alpha domain smart00358: Double-stranded RNA binding motif smart00552: tRNA-specific and double-stranded RNA adenosine deaminase (RNA-specific editase)		127400
27042	MGC29875		1q32.2		KOG2340: Uncharacterized conserved protein [Function unknown]
1296	COL8A2	collagen, type VIII, alpha 2	1p34.2	GO:0005202: collagen GO:0005591: collagen type VIII GO:0005598: short-chain collagen GO:0005604: basement membrane GO:0007601: vision	pfam00386: C1q domain
4610	MYCL1	v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian)	1p34.2		pfam01056: Myc amino-terminal region
3155	HMGCL	3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)	1p36.1-p35	GO:0004419: hydroxymethylglutaryl-CoA lyase activity GO:0005759: mitochondrial matrix GO:0006091: energy pathways GO:0006520: amino acid metabolism GO:0016829: lyase activity	KOG2368: Hydroxymethylglutaryl-CoA lyase [Energy production and conversion, Amino acid transport and metabolism]	Butanoate metabolism Synthesis and degradation of ketone bodies Valine, leucine and isoleucine degradation	246450
4681	NBL1	neuroblastoma, suppression of tumorigenicity 1	1p36.13-p36.11	GO:0045786: negative regulation of cell cycle	pfam03045: DAN domain
1844	DUSP2	dual specificity phosphatase 2	2q11	GO:0000188: inactivation of MAPK GO:0004725: protein-tyrosine-phosphatase activity GO:0005634: nucleus GO:0006470: protein amino acid dephosphorylation GO:0008330: protein tyrosine/threonine phosphatase activity	KOG1716: Dual specificity phosphatase [Defense mechanisms] pfam00581: Rhodanese-like domain	Phosphatidylinositol signaling system
4691	NCL	nucleolin	2q12-qter		KOG0123: Polyadenylate-binding protein (RRM superfamily) [RNA processing and modification, Translation, ribosomal structure and biogenesis] KOG0130: RNA-binding protein RBM8/Tsunagi (RRM superfamily) [General function prediction only] smart00360: RNA recognition motif
7429	VIL1	villin 1	2q35-q36	GO:0003779: actin binding GO:0003781: actin bundling activity GO:0003789: actin filament severing activity GO:0006461: protein complex assembly GO:0008290: F-actin capping protein complex	KOG0443: Actin regulatory proteins (gelsolin/villin family) [Cytoskeleton] pfam02209: Villin headpiece domain smart00262: Gelsolin homology domain
5510	PPP1R7	protein phosphatase 1, regulatory subunit 7	2q37.3	GO:0005634: nucleus GO:0005737: cytoplasm GO:0008599: protein phosphatase type 1 regulator activity	KOG0531: Protein phosphatase 1, regulatory subunit, and related proteins [Signal transduction mechanisms] KOG0617: Ras suppressor protein (contains leucine-rich repeats) [Signal transduction mechanisms]
1639	DCTN1	dynactin 1 (p150, glued homolog, Drosophila)	2p13	GO:0003774: motor activity GO:0005856: cytoskeleton GO:0007067: mitosis GO:0007399: neurogenesis GO:0030286: dynein complex	COG4942: Membrane-bound metallopeptidase [Cell division and chromosome partitioning] KOG0971: Microtubule-associated protein dynactin DCTN1/Glued [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton] pfam01302: CAP-Gly domain	Huntington's disease	607641
10575	CCT4	chaperonin containing TCP1, subunit 4 (delta)	2p15	GO:0000074: regulation of cell cycle GO:0003754: chaperone activity GO:0005524: ATP binding GO:0005737: cytoplasm GO:0006457: protein folding	KOG0358: Chaperonin complex component, TCP-1 delta subunit (CCT4) [Posttranslational modification, protein turnover, chaperones] pfam00118: TCP-1/cpn60 chaperonin family
790	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2p22-p21	GO:0004070: aspartate carbamoyltransferase activity GO:0004088: carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity GO:0004151: dihydroorotase activity GO:0005524: ATP binding GO:0005737: cytoplasm GO:0006207: 'de novo' pyrimidine base biosynthesis GO:0006221: pyrimidine nucleotide biosynthesis GO:0006520: amino acid metabolism GO:0006526: arginine biosynthesis GO:0006807: nitrogen metabolism GO:0009347: aspartate carbamoyltransferase complex GO:0016597: amino acid binding GO:0016740: transferase activity GO:0016787: hydrolase activity GO:0016874: ligase activity	COG0044: Dihydroorotase and related cyclic amidohydrolases [Nucleotide transport and metabolism] COG0458: Carbamoylphosphate synthase large subunit (split gene in MJ) [Amino acid transport and metabolism / Nucleotide transport and metabolism] COG0540: Aspartate carbamoyltransferase, catalytic chain [Nucleotide transport and metabolism] KOG0370: Multifunctional pyrimidine synthesis protein CAD (includes carbamoyl-phophate synthetase, aspartate transcarbamylase, and glutamine amidotransferase) [General function prediction only] KOG2584: Dihydroorotase and related enzymes [Nucleotide transport and metabolism] pfam00117: Glutamine amidotransferase class-I pfam00988: Carbamoyl-phosphate synthase small chain, CPSase domain pfam02142: MGS-like domain pfam02787: Carbamoyl-phosphate synthetase large chain, oligomerisation domain	Alanine and aspartate metabolism Glutamate metabolism Pyrimidine metabolism
51277	LOC51277		2p24.1	GO:0003925: small monomeric GTPase activity GO:0005525: GTP binding GO:0007264: small GTPase mediated signal transduction	KOG0098: GTPase Rab2, small G protein superfamily [Intracellular trafficking, secretion, and vesicular transport] KOG0720: Molecular chaperone (DnaJ superfamily) [Posttranslational modification, protein turnover, chaperones] pfam00226: DnaJ domain
1974	EIF4A2	eukaryotic translation initiation factor 4A, isoform 2	3q28	GO:0003743: translation initiation factor activity GO:0004386: helicase activity GO:0006446: regulation of translational initiation GO:0008304: eukaryotic translation initiation factor 4 complex GO:0016887: ATPase activity	KOG0327: Translation initiation factor 4F, helicase subunit (eIF-4A) and related helicases [Translation, ribosomal structure and biogenesis]
7363	UGT2B4	UDP glycosyltransferase 2 family, polypeptide B4	4q13	GO:0005792: microsome GO:0006711: estrogen catabolism GO:0006805: xenobiotic metabolism GO:0015020: glucuronosyltransferase activity GO:0016021: integral to membrane	pfam00201: UDP-glucoronosyl and UDP-glucosyl transferase	Androgen and estrogen metabolism Pentose and glucuronate interconversions Porphyrin and chlorophyll metabolism Starch and sucrose metabolism
27306	PGDS		4q22.3	GO:0001516: prostaglandin biosynthesis GO:0004667: prostaglandin-D synthase activity GO:0005737: cytoplasm GO:0007165: signal transduction GO:0007267: cell-cell signaling GO:0007626: locomotory behavior GO:0016853: isomerase activity	KOG1695: Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]	Prostaglandin and leukotriene metabolism
4085	MAD2L1	MAD2 mitotic arrest deficient-like 1 (yeast)	4q27	GO:0000776: kinetochore GO:0005634: nucleus GO:0007049: cell cycle GO:0007067: mitosis GO:0007093: mitotic checkpoint	KOG3285: Spindle assembly checkpoint protein [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]	Cell cycle
3295	HSD17B4	hydroxysteroid (17-beta) dehydrogenase 4	5q21	GO:0003857: 3-hydroxyacyl-CoA dehydrogenase activity GO:0004303: estradiol 17-beta-dehydrogenase activity GO:0005498: sterol carrier activity GO:0005777: peroxisome GO:0006631: fatty acid metabolism GO:0008152: metabolism GO:0015248: sterol transporter activity GO:0016491: oxidoreductase activity GO:0016829: lyase activity GO:0016853: isomerase activity	KOG1206: Peroxisomal multifunctional beta-oxidation protein and related enzymes [Lipid transport and metabolism] pfam00106: short chain dehydrogenase pfam01575: MaoC like domain pfam02036: SCP-2 sterol transfer family	Androgen and estrogen metabolism	261515
6414	SEPP1	selenoprotein P, plasma, 1	5q31	GO:0006979: response to oxidative stress GO:0008430: selenium binding	pfam04592: Selenoprotein P, N terminal region pfam04593: Selenoprotein P, C terminal region	Integrin-mediated cell adhesion
79646	PANK3	pantothenate kinase 3	5q34	GO:0004594: pantothenate kinase activity GO:0005524: ATP binding GO:0015937: coenzyme A biosynthesis GO:0016740: transferase activity	KOG2201: Pantothenate kinase PanK and related proteins [Coenzyme transport and metabolism]	Pantothenate and CoA biosynthesis
6793	STK10	serine/threonine kinase 10	5q35.1	GO:0004674: protein serine/threonine kinase activity GO:0006468: protein amino acid phosphorylation	cd00180: Serine/Threonine protein kinases, catalytic domain COG4942: Membrane-bound metallopeptidase [Cell division and chromosome partitioning] KOG0579: Ste20-like serine/threonine protein kinase [Signal transduction mechanisms] KOG0661: MAPK related serine/threonine protein kinase [Signal transduction mechanisms]
262	AMD1	adenosylmethionine decarboxylase 1	6q21-q22	GO:0004014: adenosylmethionine decarboxylase activity GO:0006597: spermine biosynthesis GO:0008295: spermidine biosynthesis GO:0008372: cellular_component unknown GO:0016829: lyase activity	KOG0788: S-adenosylmethionine decarboxylase [Signal transduction mechanisms]	Arginine and proline metabolism
5980	REV3L	REV3-like, catalytic subunit of DNA polymerase zeta (yeast)	6q21	GO:0003894: zeta DNA polymerase activity GO:0006261: DNA dependent DNA replication GO:0016035: zeta DNA polymerase complex	KOG0968: DNA polymerase zeta, catalytic subunit [Replication, recombination and repair] pfam00136: DNA polymerase family B pfam03104: DNA polymerase family B, exonuclease domain	DNA polymerase Purine metabolism Pyrimidine metabolism
39	ACAT2	acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)	6q25.3-q26	GO:0005737: cytoplasm GO:0006629: lipid metabolism	KOG1390: Acetyl-CoA acetyltransferase [Lipid transport and metabolism]	Benzoate degradation via CoA ligation Butanoate metabolism Fatty acid biosynthesis (path 2) Fatty acid metabolism Lysine degradation Propanoate metabolism Pyruvate metabolism Synthesis and degradation of ketone bodies Tryptophan metabolism
55809	TRERF1	transcriptional regulating factor 1	6p21.1-p12.1		KOG4167: Predicted DNA-binding protein, contains SANT and ELM2 domains [Transcription] smart00717: SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
10455	PECI	peroxisomal D3,D2-enoyl-CoA isomerase	6p24.3	GO:0000062: acyl-CoA binding GO:0004165: dodecenoyl-CoA delta-isomerase activity GO:0005777: peroxisome GO:0006631: fatty acid metabolism GO:0008152: metabolism GO:0016853: isomerase activity	KOG0016: Enoyl-CoA hydratase/isomerase [Lipid transport and metabolism] KOG0817: Acyl-CoA-binding protein [Lipid transport and metabolism]	Fatty acid metabolism
23670	TMEM2	transmembrane protein 2	9q13-q21	GO:0016021: integral to membrane
8577	TMEFF1	transmembrane protein with EGF-like and two follistatin-like domains 1	9q31		cd00104: Kazal type serine protease inhibitors and follistatin-like domains KOG1219: Uncharacterized conserved protein, contains laminin, cadherin and EGF domains [Signal transduction mechanisms]
6136	RPL12	ribosomal protein L12	9q34	GO:0003723: RNA binding GO:0003735: structural constituent of ribosome GO:0005622: intracellular GO:0005840: ribosome GO:0005842: cytosolic large ribosomal subunit (sensu Eukarya) GO:0006412: protein biosynthesis	KOG0886: 40S ribosomal protein S2 [Translation, ribosomal structure and biogenesis]	Ribosome
8818	DPM2	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	9q34.13	GO:0005789: endoplasmic reticulum membrane GO:0006486: protein amino acid glycosylation	KOG3488: Dolichol phosphate-mannose regulatory protein (DPM2) [Posttranslational modification, protein turnover, chaperones]
7306	TYRP1	tyrosinase-related protein 1	9p23	GO:0004497: monooxygenase activity GO:0006583: melanin biosynthesis from tyrosine GO:0008152: metabolism GO:0016021: integral to membrane	pfam00264: Common central domain of tyrosinase		203290 278400
10072	DPP3	dipeptidylpeptidase 3	11q12-q13.1	GO:0004177: aminopeptidase activity GO:0005737: cytoplasm GO:0006508: proteolysis and peptidolysis GO:0008237: metallopeptidase activity GO:0008239: dipeptidyl-peptidase activity GO:0016787: hydrolase activity GO:0017039: dipeptidyl-peptidase III activity	KOG3675: Dipeptidyl peptidase III [General function prediction only] pfam03571: Peptidase family M49
1521	CTSW	cathepsin W (lymphopain)	11q13.1	GO:0004197: cysteine-type endopeptidase activity GO:0006508: proteolysis and peptidolysis GO:0006955: immune response GO:0016787: hydrolase activity	KOG1542: Cysteine proteinase Cathepsin F [Posttranslational modification, protein turnover, chaperones]
5954	RCN1	reticulocalbin 1, EF-hand calcium binding domain	11p13	GO:0005509: calcium ion binding GO:0005788: endoplasmic reticulum lumen	KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms] KOG4223: Reticulocalbin, calumenin, DNA supercoiling factor, and related Ca2+-binding proteins of the CREC family (EF-Hand protein superfamily) [Signal transduction mechanisms, Intracellular trafficking, secretion, and vesicular transport]
8424	BBOX1	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	11p14.2	GO:0008336: gamma-butyrobetaine dioxygenase activity GO:0016491: oxidoreductase activity GO:0016702: oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0045329: carnitine biosynthesis	KOG3888: Gamma-butyrobetaine,2-oxoglutarate dioxygenase [Lipid transport and metabolism]	Lysine degradation
1509	CTSD	cathepsin D (lysosomal aspartyl protease)	11p15.5	GO:0004192: cathepsin D activity GO:0004194: pepsin A activity GO:0005764: lysosome GO:0006508: proteolysis and peptidolysis GO:0016787: hydrolase activity	pfam00026: Eukaryotic aspartyl protease
1594	CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	12q13.1-q13.3		KOG0159: Cytochrome P450 CYP11/CYP12/CYP24/CYP27 subfamilies [Secondary metabolites biosynthesis, transport and catabolism]	Ascorbate and aldarate metabolism Flavonoids, stilbene and lignin biosynthesis Fluorene degradation gamma-Hexachlorocyclohexane degradation	264700
4665	NAB2	NGFI-A binding protein 2 (EGR1 binding protein 2)	12q13.3-q14.1	GO:0003714: transcription corepressor activity GO:0007399: neurogenesis GO:0008283: cell proliferation	KOG3835: Transcriptional corepressor NAB1 [Transcription]
10426	TUBGCP3	tubulin, gamma complex associated protein 3	13q34		KOG2000: Gamma-tubulin complex, DGRIP91/SPC98 component [Cytoskeleton]
5267	SERPINA4	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	14q31-q32.1	GO:0004867: serine-type endopeptidase inhibitor activity GO:0005515: protein binding	cd00172: SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms
374573	na		14q32.33		smart00407: Immunoglobulin C-Type
8925	HERC1	hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1	15q22	GO:0003824: catalytic activity GO:0004842: ubiquitin-protein ligase activity GO:0005086: ARF guanyl-nucleotide exchange factor activity GO:0005794: Golgi apparatus GO:0006512: ubiquitin cycle GO:0016192: vesicle-mediated transport	COG2319: FOG: WD40 repeat [General function prediction only] COG5184: COG5184, ATS1, Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell division and chromosome partitioning / Cytoskeleton] smart00119: Domain Homologous to E6-AP Carboxyl Terminus with smart00449: Domain in SPla and the RYanodine Receptor.	Ubiquitin mediated proteolysis
1783	DNCLI2	dynein, cytoplasmic, light intermediate polypeptide 2	16q22.1	GO:0003774: motor activity GO:0005524: ATP binding GO:0005868: cytoplasmic dynein complex	KOG3929: Uncharacterized conserved protein [Function unknown] pfam05783: Dynein light intermediate chain (DLIC)
5531	PPP4C	protein phosphatase 4 (formerly X), catalytic subunit	16p12-16p11	GO:0000226: microtubule cytoskeleton organization and biogenesis GO:0004704: NF-kappaB-inducing kinase activity GO:0004722: protein serine/threonine phosphatase activity GO:0005634: nucleus GO:0005813: centrosome GO:0016787: hydrolase activity GO:0030145: manganese ion binding GO:0046872: metal ion binding	KOG0372: Serine/threonine specific protein phosphatase involved in glycogen accumulation, PP2A-related [Carbohydrate transport and metabolism, Signal transduction mechanisms]
23049	SMG1		16p13.11	GO:0004428: inositol/phosphatidylinositol kinase activity	KOG0891: DNA-dependent protein kinase [Replication, recombination and repair] KOG0892: Protein kinase ATM/Tel1, involved in telomere length regulation and DNA repair [Signal transduction mechanisms, Chromatin structure and dynamics, Replication, recombination and repair, Cell cycle control, cell division, chromosome partitioning] pfam02260: FATC domain smart00146: Phosphoinositide 3-kinase, catalytic domain
2319	FLOT2	flotillin 2	17q11-q12		KOG2668: Flotillins [Intracellular trafficking, secretion, and vesicular transport, Cytoskeleton]
10948	STARD3	START domain containing 3	17q11-q12	GO:0005737: cytoplasm GO:0006629: lipid metabolism GO:0006839: mitochondrial transport GO:0008202: steroid metabolism GO:0008203: cholesterol metabolism	KOG3845: MLN, STAR and related lipid-binding proteins [Lipid transport and metabolism] smart00234: in StAR and phosphatidylcholine transfer protein
4302	MLLT6	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	17q21	GO:0006355: regulation of transcription, DNA-dependent GO:0007048: oncogenesis	KOG0956: PHD finger protein AF10 [General function prediction only] pfam00628: PHD-finger
10237	SLC35B1	solute carrier family 35, member B1	17q21.33	GO:0005459: UDP-galactose transporter activity GO:0005792: microsome GO:0006810: transport	KOG1580: UDP-galactose transporter related protein [Carbohydrate transport and metabolism]
4927	NUP88	nucleoporin 88kDa	17p13.2	GO:0005215: transporter activity GO:0005634: nucleus GO:0005643: nuclear pore GO:0006810: transport	KOG1850: Myosin-like coiled-coil protein [Cytoskeleton] KOG4460: Nuclear pore complex, Nup88/rNup84 component [Nuclear structure, Intracellular trafficking, secretion, and vesicular transport]
84268	MGC4189		17p13.3
25800	SLC39A6	solute carrier family 39 (zinc transporter), member 6	18q12.2	GO:0004785: copper, zinc superoxide dismutase activity GO:0006801: superoxide metabolism GO:0016020: membrane GO:0030001: metal ion transport GO:0046872: metal ion binding GO:0046873: metal ion transporter activity	KOG2693: Putative zinc transporter [Inorganic ion transport and metabolism] pfam02535: ZIP Zinc transporter
56848	SPHK2	sphingosine kinase 2	19q13.2		COG1597: Sphingosine kinase and enzymes related to eukaryotic diacylglycerol kinase [Lipid metabolism / General function prediction only] KOG1116: Sphingosine kinase, involved in sphingolipid metabolism [Lipid transport and metabolism, Signal transduction mechanisms]	Benzoate degradation via CoA ligation Inositol phosphate metabolism Nicotinate and nicotinamide metabolism Sphingoglycolipid metabolism Starch and sucrose metabolism
6820	SULT2B1	sulfotransferase family, cytosolic, 2B, member 1	19q13.3		KOG1584: Sulfotransferase [General function prediction only]
2767	GNA11	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	19p13.3		KOG0085: G protein subunit Galphaq/Galphay, small G protein superfamily [Signal transduction mechanisms]
51690	LSM7	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	19p13.3		KOG1781: Small Nuclear ribonucleoprotein splicing factor [RNA processing and modification]
53615	MBD3	methyl-CpG binding domain protein 3	19p13.3		KOG4161: Methyl-CpG binding transcription regulators [Transcription, Chromatin structure and dynamics]
10950	BTG3	BTG family, member 3	21q21.1-q21.2	GO:0000074: regulation of cell cycle GO:0008285: negative regulation of cell proliferation	KOG4006: Anti-proliferation factor BTG1/TOB [Signal transduction mechanisms, General function prediction only] pfam01211: BTG1 family
4047	LSS	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	21q22.3		KOG0497: Oxidosqualene-lanosterol cyclase and related proteins [Lipid transport and metabolism]	Sterol biosynthesis
11274	USP18	ubiquitin specific protease 18	22q11.21	GO:0004197: cysteine-type endopeptidase activity GO:0004221: ubiquitin thiolesterase activity GO:0004843: ubiquitin-specific protease activity GO:0005634: nucleus GO:0006511: ubiquitin-dependent protein catabolism GO:0016787: hydrolase activity	KOG1863: Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones] pfam00443: Ubiquitin carboxyl-terminal hydrolase
29781	384D8-2		22q13.33		KOG2359: Uncharacterized conserved protein [Function unknown]
1288	COL4A6	collagen, type IV, alpha 6	Xq22	GO:0005202: collagen GO:0005587: collagen type IV GO:0005604: basement membrane GO:0007048: oncogenesis	KOG3546: Collagens (type XV) [Extracellular structures] pfam01413: C-terminal tandem repeated domain in type 4 procollagen		308940
3421	IDH3G	isocitrate dehydrogenase 3 (NAD+) gamma	Xq28	GO:0004449: isocitrate dehydrogenase (NAD+) activity GO:0005975: carbohydrate metabolism	KOG0784: Isocitrate dehydrogenase, gamma subunit [Amino acid transport and metabolism]	Citrate cycle (TCA cycle)
6901	TAZ	tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)	Xq28	GO:0006936: muscle contraction GO:0007048: oncogenesis GO:0007507: heart development GO:0007517: muscle development	KOG2847: Phosphate acyltransferase [Lipid transport and metabolism]		300069 300183 300394 302060
7317	UBE1	ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)	Xp11.23	GO:0004839: ubiquitin activating enzyme activity GO:0006260: DNA replication GO:0006512: ubiquitin cycle GO:0016874: ligase activity	KOG2012: Ubiquitin activating enzyme UBA1 [Posttranslational modification, protein turnover, chaperones] pfam00899: ThiF family pfam02134: Repeat in ubiquitin-activating (UBA) protein	Parkinson's disease Ubiquitin mediated proteolysis
27238	T54		Xp11.23		KOG4315: G-patch nucleic acid binding protein [General function prediction only] smart00443: glycine rich nucleic binding domain
3422	IDI1	isopentenyl-diphosphate delta isomerase	10p15.3	GO:0000287: magnesium ion binding GO:0004452: isopentenyl-diphosphate delta-isomerase activity GO:0005777: peroxisome GO:0006695: cholesterol biosynthesis GO:0008299: isoprenoid biosynthesis GO:0016117: carotenoid biosynthesis GO:0016853: isomerase activity	KOG0142: Isopentenyl pyrophosphate:dimethylallyl pyrophosphate isomerase [Secondary metabolites biosynthesis, transport and catabolism]	Sterol biosynthesis Terpenoid biosynthesis
4835	NQO2	NAD(P)H dehydrogenase, quinone 2	6pter-q12	GO:0003955: NAD(P)H dehydrogenase (quinone) activity GO:0005489: electron transporter activity GO:0006118: electron transport GO:0008753: NADPH dehydrogenase (quinone) activity GO:0016491: oxidoreductase activity	pfam02525: Flavodoxin-like fold	Sterol biosynthesis
8613	PPAP2B	phosphatidic acid phosphatase type 2B	1pter-p22.1	GO:0004721: phosphoprotein phosphatase activity GO:0006629: lipid metabolism GO:0008151: cell growth and/or maintenance GO:0008354: germ-cell migration GO:0016020: membrane GO:0016787: hydrolase activity	KOG3030: Lipid phosphate phosphatase and related enzymes of the PAP2 family [Lipid transport and metabolism]	Glycerolipid metabolism Phospholipid degradation
10005	PTE1	peroxisomal acyl-CoA thioesterase	20q12-q13.1	GO:0004759: serine esterase activity GO:0005777: peroxisome GO:0006629: lipid metabolism GO:0006637: acyl-CoA metabolism GO:0008778: acyl-CoA thioesterase II activity GO:0016290: palmitoyl-CoA hydrolase activity GO:0016787: hydrolase activity GO:0019735: antimicrobial humoral response (sensu Vertebrata)	COG1946: Acyl-CoA thioesterase [Lipid metabolism] KOG3016: Acyl-CoA thioesterase [Lipid transport and metabolism]

Cluster 1 (30 LocusIDs)

LocusLink	Symbol	Name	Cytoband Location	GO Terms	Domain Terms	KEGG Pathway	OMIM
7049	TGFBR3	transforming growth factor, beta receptor III (betaglycan, 300kDa)	1p33-p32	GO:0004872: receptor activity GO:0005539: glycosaminoglycan binding GO:0007165: signal transduction GO:0007179: transforming growth factor beta receptor signaling pathway GO:0007275: development GO:0016021: integral to membrane	smart00241: Zona pellucida (ZP) domain
1441	CSF3R	colony stimulating factor 3 receptor (granulocyte)	1p35-p34.3	GO:0004872: receptor activity GO:0004896: hematopoietin/interferon-class (D200-domain) cytokine receptor activity GO:0005194: cell adhesion molecule activity GO:0005887: integral to plasma membrane GO:0006952: defense response GO:0007155: cell adhesion GO:0007165: signal transduction	cd00063: Fibronectin type 3 domain KOG3513: Neural cell adhesion molecule L1 [Signal transduction mechanisms] pfam00041: Fibronectin type III domain
2591	GALNT3	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	2q24-q31	GO:0004653: polypeptide N-acetylgalactosaminyltransferase activity GO:0005624: membrane fraction GO:0005975: carbohydrate metabolism GO:0016021: integral to membrane GO:0016740: transferase activity	cd00161: Ricin-type beta-trefoil KOG3736: Polypeptide N-acetylgalactosaminyltransferase [Posttranslational modification, protein turnover, chaperones] pfam00535: Glycosyl transferase	O-Glycans biosynthesis
1796	DOK1	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	2p13	GO:0005158: insulin receptor binding GO:0005515: protein binding GO:0007166: cell surface receptor linked signal transduction GO:0007169: transmembrane receptor protein tyrosine kinase signaling pathway	KOG4047: Docking protein 1 (p62dok) [Signal transduction mechanisms]
2982	GUCY1A3	guanylate cyclase 1, soluble, alpha 3	4q31.3-q33	GO:0004383: guanylate cyclase activity GO:0004872: receptor activity GO:0006182: cGMP biosynthesis GO:0007263: nitric oxide mediated signal transduction GO:0008015: circulation GO:0008074: guanylate cyclase complex, soluble GO:0016829: lyase activity	KOG4171: Adenylate/guanylate kinase [Nucleotide transport and metabolism] smart00044: Adenylyl- / guanylyl cyclase, catalytic domain	Purine metabolism
2568	GABRP	gamma-aminobutyric acid (GABA) A receptor, pi	5q33-q34	GO:0004890: GABA-A receptor activity GO:0005216: ion channel activity GO:0005230: extracellular ligand-gated ion channel activity GO:0006811: ion transport GO:0007268: synaptic transmission GO:0016021: integral to membrane GO:0030594: neurotransmitter receptor activity	KOG3643: GABA receptor [Signal transduction mechanisms]
934	CD24	CD24 antigen (small cell lung carcinoma cluster 4 antigen)	6q21	GO:0005886: plasma membrane GO:0006959: humoral immune response
3459	IFNGR1	interferon gamma receptor 1	6q23-q24	GO:0003800: antiviral response protein activity GO:0004872: receptor activity GO:0004896: hematopoietin/interferon-class (D200-domain) cytokine receptor activity GO:0004906: interferon-gamma receptor activity GO:0005887: integral to plasma membrane GO:0006955: immune response GO:0007165: signal transduction GO:0009615: response to virus GO:0009618: response to pathogenic bacteria GO:0019955: cytokine binding	pfam04903: Poxvirus interferon gamma receptor		107470 209950 600263
781	CACNA2D1	calcium channel, voltage-dependent, alpha 2/delta subunit 1	7q21-q22	GO:0005244: voltage-gated ion channel activity GO:0005262: calcium channel activity GO:0005624: membrane fraction GO:0005891: voltage-gated calcium channel complex GO:0006811: ion transport GO:0015270: dihydropyridine-sensitive calcium channel activity GO:0016021: integral to membrane	KOG2353: L-type voltage-dependent Ca2+ channel, alpha2/delta subunit [Inorganic ion transport and metabolism, Signal transduction mechanisms] pfam00092: von Willebrand factor type A domain pfam02743: Cache domain
3486	IGFBP3	insulin-like growth factor binding protein 3	7p13-p12	GO:0001558: regulation of cell growth GO:0005520: insulin-like growth factor binding GO:0005615: extracellular space GO:0007165: signal transduction	pfam00086: Thyroglobulin type-1 repeat pfam00219: Insulin-like growth factor binding protein smart00121: Insulin growth factor-binding protein homologues smart00211: Thyroglobulin type I repeats.
7038	TG	thyroglobulin	8q24.2-q24.3	GO:0005179: hormone activity GO:0005615: extracellular space GO:0005625: soluble fraction GO:0006590: thyroid hormone generation GO:0007165: signal transduction	KOG1214: Nidogen and related basement membrane protein proteins [Cell wall/membrane/envelope biogenesis, Extracellular structures] pfam00086: Thyroglobulin type-1 repeat pfam00135: Carboxylesterase smart00211: Thyroglobulin type I repeats		188450
6575	SLC20A2	solute carrier family 20 (phosphate transporter), member 2	8p12-q21	GO:0004872: receptor activity GO:0005436: sodium:phosphate symporter activity GO:0005624: membrane fraction GO:0005887: integral to plasma membrane GO:0006810: transport GO:0006817: phosphate transport GO:0016020: membrane	KOG2493: Na+/Pi symporter [Inorganic ion transport and metabolism]
2022	ENG	endoglin (Osler-Rendu-Weber syndrome 1)	9q33-q34.1	GO:0005194: cell adhesion molecule activity GO:0005515: protein binding GO:0005887: integral to plasma membrane GO:0007155: cell adhesion GO:0008015: circulation GO:0009887: organogenesis	pfam00100: Zona pellucida-like domain		187300
6709	SPTAN1	spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)	9q33-q34	GO:0003779: actin binding GO:0005200: structural constituent of cytoskeleton GO:0005509: calcium ion binding GO:0005516: calmodulin binding GO:0005624: membrane fraction GO:0005856: cytoskeleton GO:0008091: spectrin GO:0016020: membrane	cd00176: Spectrin repeats, found in several proteins involved in cytoskeletal structure KOG0027: Calmodulin and related proteins (EF-Hand superfamily) [Signal transduction mechanisms] KOG0040: Ca2+-binding actin-bundling protein (spectrin), alpha chain (EF-Hand protein superfamily) [Cytoskeleton] KOG0517: Beta-spectrin [Cytoskeleton]
5047	PAEP	progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial alpha-2-globulin, alpha uterine protein)	9q34	GO:0005215: transporter activity GO:0006810: transport GO:0007275: development	pfam00061: Lipocalin / cytosolic fatty-acid binding protein family
3641	INSL4	insulin-like 4 (placenta)	9p24	GO:0005159: insulin-like growth factor receptor binding GO:0005179: hormone activity GO:0005615: extracellular space GO:0005625: soluble fraction GO:0007165: signal transduction GO:0007267: cell-cell signaling GO:0007275: development GO:0007565: pregnancy GO:0008283: cell proliferation
5612	PRKRIR	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	11q13.5	GO:0003677: DNA binding GO:0005515: protein binding GO:0006445: regulation of translation GO:0006950: response to stress GO:0007165: signal transduction GO:0008285: negative regulation of cell proliferation	pfam05485: THAP domain pfam05699: hAT family dimerisation domain
3481	IGF2	insulin-like growth factor 2 (somatomedin A)	11p15.5	GO:0000074: regulation of cell cycle GO:0001501: skeletal development GO:0005159: insulin-like growth factor receptor binding GO:0005179: hormone activity GO:0005576: extracellular GO:0006349: imprinting GO:0007150: growth pattern GO:0007275: development GO:0007582: physiological process GO:0008083: growth factor activity GO:0008283: cell proliferation GO:0008286: insulin receptor signaling pathway	IlGF: Insulin / insulin-like growth factor / relaxin family. pfam00049: Insulin/IGF/Relaxin family
2842	GPR19	G protein-coupled receptor 19	12p12.3	GO:0001584: rhodopsin-like receptor activity GO:0005887: integral to plasma membrane GO:0007186: G-protein coupled receptor protein signaling pathway	pfam00001: 7 transmembrane receptor (rhodopsin family)
719	C3AR1	complement component 3a receptor 1	12p13.31	GO:0001584: rhodopsin-like receptor activity GO:0004435: phosphoinositide phospholipase C activity GO:0004876: complement component C3a receptor activity GO:0004943: C3a anaphylatoxin receptor activity GO:0005887: integral to plasma membrane GO:0006928: cell motility GO:0006935: chemotaxis GO:0006939: smooth muscle contraction GO:0006954: inflammatory response GO:0006968: cellular defense response GO:0007186: G-protein coupled receptor protein signaling pathway GO:0007204: cytosolic calcium ion concentration elevation GO:0008015: circulation	pfam00001: 7 transmembrane receptor (rhodopsin family)	Coagulation cascade
6555	SLC10A2	solute carrier family 10 (sodium/bile acid cotransporter family), member 2	13q33	GO:0005887: integral to plasma membrane GO:0006810: transport GO:0006814: sodium ion transport GO:0008508: bile acid:sodium symporter activity GO:0015293: symporter activity GO:0015711: organic anion transport	KOG2718: Na+-bile acid cotransporter [Inorganic ion transport and metabolism]		601295
5018	OXA1L	oxidase (cytochrome c) assembly 1-like	14q11.2	GO:0005739: mitochondrion GO:0005746: mitochondrial electron transport chain GO:0006118: electron transport GO:0006461: protein complex assembly GO:0007165: signal transduction GO:0009060: aerobic respiration GO:0016021: integral to membrane GO:0019866: inner membrane	KOG1239: Inner membrane protein translocase involved in respiratory chain assembly [Posttranslational modification, protein turnover, chaperones, Intracellular trafficking, secretion, and vesicular transport]	Protein export
5826	ABCD4	ATP-binding cassette, sub-family D (ALD), member 4	14q24.3	GO:0000166: nucleotide binding GO:0004009: ATP-binding cassette (ABC) transporter activity GO:0005215: transporter activity GO:0005524: ATP binding GO:0005624: membrane fraction GO:0005778: peroxisomal membrane GO:0006810: transport GO:0016021: integral to membrane	cd00267: ABC (ATP-binding cassette) transporter nucleotide-binding domain KOG0060: Long-chain acyl-CoA transporter, ABC superfamily (involved in peroxisome organization and biogenesis) [Lipid transport and metabolism, General function prediction only]
9564	BCAR1	breast cancer anti-estrogen resistance 1	16q22-q23	GO:0004871: signal transducer activity GO:0005194: cell adhesion molecule activity GO:0005624: membrane fraction GO:0005737: cytoplasm GO:0007155: cell adhesion GO:0008283: cell proliferation	KOG0307: Vesicle coat complex COPII, subunit SEC31 [Intracellular trafficking, secretion, and vesicular transport] smart00326: Src homology 3 domains	Integrin-mediated cell adhesion
4239	MFAP4	microfibrillar-associated protein 4	17p11.2	GO:0001527: microfibril GO:0005194: cell adhesion molecule activity GO:0005554: molecular_function unknown GO:0007155: cell adhesion	cd00087: Fibrinogen-related domains (FReDs)
7276	TTR	transthyretin (prealbumin, amyloidosis type I)	18q12.1	GO:0005386: carrier activity GO:0005496: steroid binding GO:0005615: extracellular space GO:0006590: thyroid hormone generation GO:0006810: transport GO:0015349: thyroid hormone transporter activity GO:0019841: retinol binding	smart00095: Transthyretin		176300
4037	LRP3	low density lipoprotein receptor-related protein 3	19q13.12	GO:0004872: receptor activity GO:0005319: lipid transporter activity GO:0006898: receptor mediated endocytosis GO:0016021: integral to membrane	cd00041: CUB domain KOG1215: Low-density lipoprotein receptors containing Ca2+-binding EGF-like domains [Signal transduction mechanisms] smart00192: Low-density lipoprotein receptor domain class A
23630	KCNE1L	potassium voltage-gated channel, Isk-related family, member 1-like	Xq22.3	GO:0007605: hearing GO:0008016: regulation of heart rate GO:0008076: voltage-gated potassium channel complex GO:0016021: integral to membrane
7224	TRPC5	transient receptor potential cation channel, subfamily C, member 5	Xq23	GO:0005887: integral to plasma membrane GO:0006812: cation transport GO:0006816: calcium ion transport GO:0007399: neurogenesis GO:0015279: store-operated calcium channel activity	KOG3609: Receptor-activated Ca2+-permeable cation channels (STRPC family) [Inorganic ion transport and metabolism, Signal transduction mechanisms] pfam00520: Ion transport protein
5173	PDYN	prodynorphin	20pter-p12	GO:0001515: opioid peptide activity GO:0005886: plasma membrane GO:0007218: neuropeptide signaling pathway GO:0007268: synaptic transmission	pfam01160: Vertebrate endogenous opioids neuropeptide

Cluster 2 (26 LocusIDs)

LocusLink	Symbol	Name	Cytoband Location	GO Terms	Domain Terms	KEGG Pathway	OMIM
6883	TAF12	TAF12 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 20kDa	1p35.2	GO:0003677: DNA binding GO:0005515: protein binding GO:0005634: nucleus GO:0005669: transcription factor TFIID complex GO:0006352: transcription initiation GO:0006355: regulation of transcription, DNA-dependent GO:0016251: general RNA polymerase II transcription factor activity	KOG1142: Transcription initiation factor TFIID, subunit TAF12 (also component of histone acetyltransferase SAGA) [Transcription] pfam03847: Transcription initiation factor TFIID subunit A	Transcription factors
10250	SRRM1	serine/arginine repetitive matrix 1	1p36.11	GO:0003677: DNA binding GO:0005634: nucleus GO:0006355: regulation of transcription, DNA-dependent GO:0006397: mRNA processing	KOG2146: Splicing coactivator SRm160/300, subunit SRm160 (contains PWI domain) [RNA processing and modification, General function prediction only]
3235	HOXD9	homeo box D9	2q31.1	GO:0003700: transcription factor activity GO:0003702: RNA polymerase II transcription factor activity GO:0005634: nucleus GO:0006350: transcription GO:0006355: regulation of transcription, DNA-dependent GO:0007275: development GO:0016563: transcriptional activator activity	KOG0487: Transcription factor Abd-B, contains HOX domain [Transcription] pfam00046: Homeobox domain pfam04617: Hox9 activation region
3069	HDLBP	high density lipoprotein binding protein (vigilin)	2q37	GO:0003723: RNA binding GO:0005319: lipid transporter activity GO:0005634: nucleus GO:0005886: plasma membrane GO:0006869: lipid transport GO:0008203: cholesterol metabolism GO:0008289: lipid binding	KOG2208: Vigilin [Lipid transport and metabolism] pfam00013: KH domain smart00322: K homology RNA-binding domain
86	BAF53A		3q27.1	GO:0003682: chromatin binding GO:0003774: motor activity GO:0005200: structural constituent of cytoskeleton GO:0005634: nucleus GO:0005884: actin filament GO:0006338: chromatin remodeling GO:0007165: signal transduction GO:0009613: response to pest/pathogen/parasite	KOG0679: Actin-related protein - Arp4p/Act3p [Cytoskeleton]
6047	RNF4	ring finger protein 4	4p16.3	GO:0003700: transcription factor activity GO:0003713: transcription coactivator activity GO:0003800: antiviral response protein activity GO:0005634: nucleus GO:0006357: regulation of transcription from Pol II promoter GO:0008270: zinc ion binding	cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc KOG0320: Predicted E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones]
2966	GTF2H2	general transcription factor IIH, polypeptide 2, 44kDa	5q12.2-q13.3	GO:0005634: nucleus GO:0006281: DNA repair GO:0006355: regulation of transcription, DNA-dependent	COG5151: RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription / DNA replication, recombination, and repair] KOG2807: RNA polymerase II transcription initiation/nucleotide excision repair factor TFIIH, subunit SSL1 [Transcription, Replication, recombination and repair]	Transcription factors
2533	FYB	FYN binding protein (FYB-120/130)	5p13.1	GO:0005515: protein binding GO:0005634: nucleus GO:0006468: protein amino acid phosphorylation GO:0006607: NLS-bearing substrate-nucleus import GO:0006955: immune response GO:0007165: signal transduction GO:0007243: protein kinase cascade	smart00326: Src homology 3 domains
10409	BASP1	brain abundant, membrane attached signal protein 1	5p15.1-p14	GO:0003677: DNA binding GO:0005634: nucleus GO:0005856: cytoskeleton GO:0005886: plasma membrane GO:0006355: regulation of transcription, DNA-dependent
11281	RPF-1		7p13-p14	GO:0003700: transcription factor activity GO:0005634: nucleus GO:0006355: regulation of transcription, DNA-dependent GO:0006366: transcription from Pol II promoter GO:0007402: ganglion mother cell fate determination GO:0007417: central nervous system development GO:0007601: vision	KOG3802: Transcription factor OCT-1, contains POU and HOX domains [Transcription] pfam00046: Homeobox domain smart00352: Found in Pit-Oct-Unc transcription factors
4683	NBS1	Nijmegen breakage syndrome 1 (nibrin)	8q21	GO:0000075: cell cycle checkpoint GO:0003684: damaged DNA binding GO:0005634: nucleus GO:0006302: double-strand break repair	pfam00498: FHA domain. The FHA (Forkhead-associated) domain is a phosphopeptide binding motif pfam00533: BRCA1 C Terminus (BRCT) domain. The BRCT domain is found predominantly in proteins involved in cell cycle checkpoint functions responsive to DNA damage. It has been suggested that the Retinoblastoma protein contains a divergent BRCT domain, thi		251260 602667
6619	SNAPC3	small nuclear RNA activating complex, polypeptide 3, 50kDa	9p22.2	GO:0003677: DNA binding GO:0005634: nucleus GO:0006355: regulation of transcription, DNA-dependent GO:0006366: transcription from Pol II promoter GO:0006383: transcription from Pol III promoter GO:0009301: snRNA transcription	KOG2664: Small nuclear RNA activating protein complex - 50kD subunit (SNAP50) [Transcription]
2237	FEN1	flap structure-specific endonuclease 1	11q12	GO:0003684: damaged DNA binding GO:0003690: double-stranded DNA binding GO:0004519: endonuclease activity GO:0004527: exonuclease activity GO:0005634: nucleus GO:0006260: DNA replication GO:0006302: double-strand break repair GO:0008309: double-stranded DNA specific exodeoxyribonuclease activity GO:0009650: UV protection GO:0016787: hydrolase activity	KOG2519: 5'-3' exonuclease [Replication, recombination and repair]
6881	TAF10	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	11p15.3	GO:0003700: transcription factor activity GO:0003702: RNA polymerase II transcription factor activity GO:0005634: nucleus GO:0005669: transcription factor TFIID complex GO:0006352: transcription initiation GO:0006355: regulation of transcription, DNA-dependent	KOG3423: Transcription initiation factor TFIID, subunit TAF10 (also component of histone acetyltransferase SAGA) [Transcription]	Transcription factors
8531	CSDA	cold shock domain protein A	12p13.1	GO:0000122: negative regulation of transcription from Pol II promoter GO:0003690: double-stranded DNA binding GO:0003700: transcription factor activity GO:0003702: RNA polymerase II transcription factor activity GO:0003714: transcription corepressor activity GO:0005653: perinuclear space GO:0005737: cytoplasm GO:0009409: response to cold	KOG3070: Predicted RNA-binding protein containing PIN domain and invovled in translation or RNA processing [Translation, ribosomal structure and biogenesis] LOAD_cold: Cold Shock RNA binding domain of the OB fold
9318	TRIP15		15q21.2	GO:0004871: signal transducer activity GO:0005515: protein binding GO:0005737: cytoplasm GO:0006366: transcription from Pol II promoter GO:0007165: signal transduction GO:0008180: signalosome complex	KOG1463: 26S proteasome regulatory complex, subunit RPN6/PSMD11 [Posttranslational modification, protein turnover, chaperones] KOG1464: COP9 signalosome, subunit CSN2 [Posttranslational modification, protein turnover, chaperones, Signal transduction mechanisms]
4775	NFATC3	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	16q22.2	GO:0003700: transcription factor activity GO:0003713: transcription coactivator activity GO:0005634: nucleus GO:0006357: regulation of transcription from Pol II promoter GO:0006954: inflammatory response	pfam00554: Rel homology domain (RHD) smart00429: ig-like, plexins, transcription factors
5073	PARN	poly(A)-specific ribonuclease (deadenylation nuclease)	16p13	GO:0003676: nucleic acid binding GO:0003730: mRNA 3' UTR binding GO:0004518: nuclease activity GO:0005634: nucleus GO:0005737: cytoplasm GO:0007292: female gamete generation GO:0009451: RNA modification	KOG1990: Poly(A)-specific exoribonuclease PARN [Replication, recombination and repair]
6776	STAT5A	signal transducer and activator of transcription 5A	17q11.2	GO:0003700: transcription factor activity GO:0004871: signal transducer activity GO:0005634: nucleus GO:0006357: regulation of transcription from Pol II promoter GO:0006955: immune response GO:0007242: intracellular signaling cascade GO:0007259: JAK-STAT cascade	KOG3667: STAT protein [Transcription, Signal transduction mechanisms]
6605	SMARCE1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	17q21.2	GO:0000228: nuclear chromosome GO:0003682: chromatin binding GO:0003713: transcription coactivator activity GO:0006337: nucleosome disassembly GO:0006357: regulation of transcription from Pol II promoter	cd00084: High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors KOG4715: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin [Chromatin structure and dynamics]
7706	ZNF147	zinc finger protein 147 (estrogen-responsive finger protein)	17q23.1	GO:0003700: transcription factor activity	cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc KOG0161: Myosin class II heavy chain [Cytoskeleton] KOG2177: Predicted E3 ubiquitin ligase [Posttranslational modification, protein turnover, chaperones] pfam00038: Intermediate filament protein smart00449: Domain in SPla and the RYanodine Receptor smart00589: associated with SPRY domains
3021	H3F3B	H3 histone, family 3B (H3.3B)	17q25	GO:0000786: nucleosome GO:0003677: DNA binding GO:0005634: nucleus GO:0005694: chromosome GO:0006334: nucleosome assembly GO:0007001: chromosome organization and biogenesis (sensu Eukarya)	KOG1745: Histones H3 and H4 [Chromatin structure and dynamics]
23624	CBLC	Cas-Br-M (murine) ecotropic retroviral transforming sequence c	19q13.2	GO:0004871: signal transducer activity GO:0005515: protein binding GO:0005634: nucleus GO:0006468: protein amino acid phosphorylation GO:0007166: cell surface receptor linked signal transduction GO:0007175: negative regulation of EGF receptor activity GO:0007242: intracellular signaling cascade GO:0008270: zinc ion binding	cd00162: RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc KOG1785: Tyrosine kinase negative regulator CBL [Defense mechanisms] pfam02262: CBL proto-oncogene N-terminal domain 1 pfam02761: CBL proto-oncogene N-terminus, EF hand-like domain pfam02762: CBL proto-oncogene N-terminus, SH2-like domain
10025	TRAP95		19p13.3	GO:0003713: transcription coactivator activity GO:0005634: nucleus GO:0006366: transcription from Pol II promoter	KOG2445: Nuclear pore complex component (sc Seh1) [Nuclear structure, Intracellular trafficking, secretion, and vesicular transport]
10365	KLF2	Kruppel-like factor 2 (lung)	19p13.13-p13.11	GO:0003700: transcription factor activity GO:0005634: nucleus GO:0006355: regulation of transcription, DNA-dependent GO:0016563: transcriptional activator activity	COG5048: FOG: Zn-finger [General function prediction only] KOG2462: C2H2-type Zn-finger protein [Transcription]
5662	PSD	pleckstrin and Sec7 domain protein	10q24	GO:0003677: DNA binding GO:0005634: nucleus GO:0006355: regulation of transcription, DNA-dependent	KOG0932: Guanine nucleotide exchange factor EFA6 [Intracellular trafficking, secretion, and vesicular transport] pfam01369: Sec7 domain smart00233: Pleckstrin homology domain

Cluster 3 (4 LocusIDs)

LocusLink	Symbol	Name	Cytoband Location	GO Terms	Domain Terms	KEGG Pathway	OMIM
90	ACVR1	activin A receptor, type I	2q23-q24	GO:0004872: receptor activity GO:0005024: transforming growth factor beta receptor activity GO:0005524: ATP binding GO:0005887: integral to plasma membrane GO:0006468: protein amino acid phosphorylation GO:0007178: transmembrane receptor protein serine/threonine kinase signaling pathway GO:0016740: transferase activity	KOG2052: Activin A type IB receptor, serine/threonine protein kinase [Signal transduction mechanisms] pfam00069: Protein kinase domain pfam01064: Activin types I and II receptor domain smart00467: GS motif
1021	CDK6	cyclin-dependent kinase 6	7q21-q22	GO:0000074: regulation of cell cycle GO:0000080: G1 phase of mitotic cell cycle GO:0000910: cytokinesis GO:0004674: protein serine/threonine kinase activity GO:0005524: ATP binding GO:0006468: protein amino acid phosphorylation GO:0016740: transferase activity	cd00180: Serine/Threonine protein kinases, catalytic domain KOG0594: Protein kinase PCTAIRE and related kinases [General function prediction only]	Benzoate degradation via CoA ligation Cell cycle Inositol phosphate metabolism Nicotinate and nicotinamide metabolism Porphyrin and chlorophyll metabolism Sphingoglycolipid metabolism Starch and sucrose metabolism
8408	ULK1	unc-51-like kinase 1 (C. elegans)	12q24.3	GO:0004674: protein serine/threonine kinase activity GO:0005524: ATP binding GO:0006468: protein amino acid phosphorylation GO:0007165: signal transduction GO:0016740: transferase activity	KOG0595: Serine/threonine-protein kinase involved in autophagy [Posttranslational modification, protein turnover, chaperones, Intracellular trafficking, secretion, and vesicular transport, Signal transduction mechanisms]	Benzoate degradation via CoA ligation Inositol phosphate metabolism Nicotinate and nicotinamide metabolism Porphyrin and chlorophyll metabolism Sphingoglycolipid metabolism Starch and sucrose metabolism
9344	TAO1		16p12.1	GO:0004674: protein serine/threonine kinase activity GO:0005524: ATP binding GO:0006468: protein amino acid phosphorylation GO:0016740: transferase activity

Cluster 4 (4 LocusIDs)

LocusLink	Symbol	Name	Cytoband Location	GO Terms	Domain Terms	KEGG Pathway	OMIM
22796	COG2	component of oligomeric golgi complex 2	1q42.2	GO:0000139: Golgi membrane GO:0006486: protein amino acid glycosylation GO:0006886: intracellular protein transport GO:0006891: intra-Golgi transport GO:0007030: Golgi organization and biogenesis GO:0008565: protein transporter activity GO:0009312: oligosaccharide biosynthesis GO:0016020: membrane GO:0017119: Golgi transport complex	KOG2307: Low density lipoprotein receptor [Intracellular trafficking, secretion, and vesicular transport]
9276	COPB2	coatomer protein complex, subunit beta 2 (beta prime)	3q23	GO:0000139: Golgi membrane GO:0005080: protein kinase C binding GO:0005783: endoplasmic reticulum GO:0005829: cytosol GO:0006886: intracellular protein transport GO:0006887: exocytosis GO:0008565: protein transporter activity GO:0016020: membrane	cd00200: WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly KOG0276: Vesicle coat complex COPI, beta' subunit [Intracellular trafficking, secretion, and vesicular transport] pfam04053: Coatomer WD associated region
10427	SEC24B	SEC24 related gene family, member B (S. cerevisiae)	4q25	GO:0005783: endoplasmic reticulum GO:0005794: Golgi apparatus GO:0006886: intracellular protein transport GO:0008565: protein transporter activity GO:0016020: membrane GO:0016192: vesicle-mediated transport GO:0030138: COPII-coated vesicle	COG5028: Vesicle coat complex COPII, subunit SEC24/subunit SFB2/subunit SFB3 [Intracellular trafficking and secretion] KOG1985: Vesicle coat complex COPII, subunit SEC24/subunit SFB2 [Intracellular trafficking, secretion, and vesicular transport]
1315	COPB	coatomer protein complex, subunit beta	11p15.2	GO:0000139: Golgi membrane GO:0005798: Golgi vesicle GO:0005829: cytosol GO:0006886: intracellular protein transport GO:0008565: protein transporter activity GO:0009405: pathogenesis GO:0016020: membrane GO:0016192: vesicle-mediated transport	KOG1058: Vesicle coat complex COPI, beta subunit [Intracellular trafficking, secretion, and vesicular transport] pfam01602: Adaptin N terminal region