NCOA1 (nuclear receptor coactivator 1)

Gene

• Entrez ID: 8648
• Gene name: Nuclear receptor coactivator 1
• Gene symbol: NCOA1
• Synonyms (NCBI Gene): F-SRC-1, KAT13A, RIP160, SRC1, bHLHe42, bHLHe74
• Chromosome: 2
• Chromosome location: 2p23.3
• Summary: The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006106	hsa-miR-22-3p	Luciferase reporter assay, Western blot	21798241
MIRT006106	hsa-miR-22-3p	Luciferase reporter assay, Western blot	21798241
MIRT006106	hsa-miR-22-3p	Luciferase reporter assay, Western blot	21798241
MIRT051725	hsa-let-7d-5p	CLASH	23622248
MIRT302078	hsa-miR-34a-5p	Microarray, qRT-PCR	22815788
MIRT655971	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT006106	hsa-miR-22-3p	qRT-PCR, Western blot	26244872
MIRT735019	hsa-miR-34c-5p	Luciferase reporter assay, Western blotting, qRT-PCR, ELISA	33842985
MIRT655971	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT1176638	hsa-miR-200b	CLIP-seq
MIRT1176639	hsa-miR-200c	CLIP-seq
MIRT1176640	hsa-miR-362-5p	CLIP-seq
MIRT1176641	hsa-miR-369-3p	CLIP-seq
MIRT1176642	hsa-miR-374a	CLIP-seq
MIRT1176643	hsa-miR-374b	CLIP-seq
MIRT1176644	hsa-miR-429	CLIP-seq
MIRT1176645	hsa-miR-4293	CLIP-seq
MIRT1176646	hsa-miR-4636	CLIP-seq
MIRT1176647	hsa-miR-4699-3p	CLIP-seq
MIRT1176648	hsa-miR-4768-5p	CLIP-seq
MIRT1176649	hsa-miR-4795-3p	CLIP-seq
MIRT1176650	hsa-miR-500b	CLIP-seq
MIRT1176651	hsa-miR-501-5p	CLIP-seq
MIRT1176652	hsa-miR-562	CLIP-seq
MIRT1176653	hsa-miR-596	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT1176655	hsa-miR-1283	CLIP-seq
MIRT1176656	hsa-miR-1301	CLIP-seq
MIRT1176657	hsa-miR-1343	CLIP-seq
MIRT1176658	hsa-miR-137	CLIP-seq
MIRT1176659	hsa-miR-1914	CLIP-seq
MIRT1176660	hsa-miR-216a	CLIP-seq
MIRT1176661	hsa-miR-219-5p	CLIP-seq
MIRT1176662	hsa-miR-223	CLIP-seq
MIRT1176663	hsa-miR-2277-3p	CLIP-seq
MIRT1176664	hsa-miR-25	CLIP-seq
MIRT1176665	hsa-miR-3074-5p	CLIP-seq
MIRT1176666	hsa-miR-3121-5p	CLIP-seq
MIRT1176667	hsa-miR-3123	CLIP-seq
MIRT1176668	hsa-miR-3124-3p	CLIP-seq
MIRT1176669	hsa-miR-3148	CLIP-seq
MIRT1176670	hsa-miR-3176	CLIP-seq
MIRT1176671	hsa-miR-3182	CLIP-seq
MIRT1176672	hsa-miR-32	CLIP-seq
MIRT1176673	hsa-miR-320e	CLIP-seq
MIRT1176674	hsa-miR-329	CLIP-seq
MIRT1176675	hsa-miR-338-5p	CLIP-seq
MIRT1176676	hsa-miR-33a	CLIP-seq
MIRT1176677	hsa-miR-33b	CLIP-seq
MIRT1176678	hsa-miR-3613-3p	CLIP-seq
MIRT1176679	hsa-miR-362-3p	CLIP-seq
MIRT1176680	hsa-miR-363	CLIP-seq
MIRT1176681	hsa-miR-3646	CLIP-seq
MIRT1176682	hsa-miR-3647-3p	CLIP-seq
MIRT1176683	hsa-miR-3662	CLIP-seq
MIRT1176684	hsa-miR-367	CLIP-seq
MIRT1176641	hsa-miR-369-3p	CLIP-seq
MIRT1176642	hsa-miR-374a	CLIP-seq
MIRT1176643	hsa-miR-374b	CLIP-seq
MIRT1176685	hsa-miR-377	CLIP-seq
MIRT1176686	hsa-miR-3922-3p	CLIP-seq
MIRT1176687	hsa-miR-3925-5p	CLIP-seq
MIRT1176688	hsa-miR-3941	CLIP-seq
MIRT1176689	hsa-miR-410	CLIP-seq
MIRT1176690	hsa-miR-4277	CLIP-seq
MIRT1176645	hsa-miR-4293	CLIP-seq
MIRT1176691	hsa-miR-4325	CLIP-seq
MIRT1176692	hsa-miR-4330	CLIP-seq
MIRT1176693	hsa-miR-4445	CLIP-seq
MIRT1176694	hsa-miR-4643	CLIP-seq
MIRT1176695	hsa-miR-4652-3p	CLIP-seq
MIRT1176696	hsa-miR-4668-5p	CLIP-seq
MIRT1176647	hsa-miR-4699-3p	CLIP-seq
MIRT1176697	hsa-miR-4699-5p	CLIP-seq
MIRT1176698	hsa-miR-4705	CLIP-seq
MIRT1176699	hsa-miR-4719	CLIP-seq
MIRT1176700	hsa-miR-4731-3p	CLIP-seq
MIRT1176648	hsa-miR-4768-5p	CLIP-seq
MIRT1176701	hsa-miR-4775	CLIP-seq
MIRT1176702	hsa-miR-4777-5p	CLIP-seq
MIRT1176703	hsa-miR-4782-3p	CLIP-seq
MIRT1176704	hsa-miR-4797-5p	CLIP-seq
MIRT1176705	hsa-miR-4801	CLIP-seq
MIRT1176706	hsa-miR-496	CLIP-seq
MIRT1176707	hsa-miR-498	CLIP-seq
MIRT1176708	hsa-miR-5047	CLIP-seq
MIRT1176709	hsa-miR-508-3p	CLIP-seq
MIRT1176710	hsa-miR-513a-3p	CLIP-seq
MIRT1176711	hsa-miR-518d-5p	CLIP-seq
MIRT1176712	hsa-miR-519b-5p	CLIP-seq
MIRT1176713	hsa-miR-519c-5p	CLIP-seq
MIRT1176714	hsa-miR-520c-5p	CLIP-seq
MIRT1176715	hsa-miR-526a	CLIP-seq
MIRT1176716	hsa-miR-548c-3p	CLIP-seq
MIRT1176652	hsa-miR-562	CLIP-seq
MIRT1176717	hsa-miR-590-3p	CLIP-seq
MIRT1176653	hsa-miR-596	CLIP-seq
MIRT1176718	hsa-miR-603	CLIP-seq
MIRT1176719	hsa-miR-642b	CLIP-seq
MIRT1176720	hsa-miR-875-3p	CLIP-seq
MIRT1176721	hsa-miR-890	CLIP-seq
MIRT1176722	hsa-miR-9	CLIP-seq
MIRT1176723	hsa-miR-92a	CLIP-seq
MIRT1176724	hsa-miR-92b	CLIP-seq
MIRT1176725	hsa-miR-944	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT2051184	hsa-miR-4659a-3p	CLIP-seq
MIRT2051185	hsa-miR-4659b-3p	CLIP-seq
MIRT2280304	hsa-miR-4708-5p	CLIP-seq
MIRT1176654	hsa-miR-105	CLIP-seq
MIRT2280305	hsa-miR-128	CLIP-seq
MIRT2280306	hsa-miR-27a	CLIP-seq
MIRT2280307	hsa-miR-27b	CLIP-seq
MIRT2280308	hsa-miR-297	CLIP-seq
MIRT2280309	hsa-miR-3612	CLIP-seq
MIRT2280310	hsa-miR-3614-3p	CLIP-seq
MIRT2280311	hsa-miR-3675-3p	CLIP-seq
MIRT2280312	hsa-miR-3913-3p	CLIP-seq
MIRT2280313	hsa-miR-4279	CLIP-seq
MIRT1176691	hsa-miR-4325	CLIP-seq
MIRT2280314	hsa-miR-4443	CLIP-seq
MIRT2280315	hsa-miR-4635	CLIP-seq
MIRT2280316	hsa-miR-4691-5p	CLIP-seq
MIRT2280317	hsa-miR-4742-3p	CLIP-seq
MIRT1176649	hsa-miR-4795-3p	CLIP-seq
MIRT2280318	hsa-miR-4796-5p	CLIP-seq
MIRT2280319	hsa-miR-489	CLIP-seq
MIRT2280320	hsa-miR-499-3p	CLIP-seq
MIRT2280321	hsa-miR-499a-3p	CLIP-seq
MIRT2280322	hsa-miR-567	CLIP-seq
MIRT2280323	hsa-miR-605	CLIP-seq
MIRT2280324	hsa-miR-650	CLIP-seq
MIRT2280325	hsa-miR-654-3p	CLIP-seq
MIRT2280326	hsa-miR-659	CLIP-seq
MIRT2578754	hsa-miR-1207-5p	CLIP-seq
MIRT2578755	hsa-miR-1225-3p	CLIP-seq
MIRT2578756	hsa-miR-1233	CLIP-seq
MIRT2578757	hsa-miR-1257	CLIP-seq
MIRT2578758	hsa-miR-1265	CLIP-seq
MIRT2578759	hsa-miR-1275	CLIP-seq
MIRT2578760	hsa-miR-1285	CLIP-seq
MIRT2578761	hsa-miR-129-3p	CLIP-seq
MIRT2578762	hsa-miR-1302	CLIP-seq
MIRT1176657	hsa-miR-1343	CLIP-seq
MIRT1176658	hsa-miR-137	CLIP-seq
MIRT1176662	hsa-miR-223	CLIP-seq
MIRT1176664	hsa-miR-25	CLIP-seq
MIRT2578763	hsa-miR-296-3p	CLIP-seq
MIRT1176665	hsa-miR-3074-5p	CLIP-seq
MIRT2578764	hsa-miR-3122	CLIP-seq
MIRT1176668	hsa-miR-3124-3p	CLIP-seq
MIRT2578765	hsa-miR-3187-5p	CLIP-seq
MIRT2578766	hsa-miR-3199	CLIP-seq
MIRT1176672	hsa-miR-32	CLIP-seq
MIRT1176676	hsa-miR-33a	CLIP-seq
MIRT1176677	hsa-miR-33b	CLIP-seq
MIRT2578767	hsa-miR-3605-5p	CLIP-seq
MIRT2280309	hsa-miR-3612	CLIP-seq
MIRT1176678	hsa-miR-3613-3p	CLIP-seq
MIRT2578768	hsa-miR-361-3p	CLIP-seq
MIRT1176680	hsa-miR-363	CLIP-seq
MIRT2578769	hsa-miR-3655	CLIP-seq
MIRT2578770	hsa-miR-3659	CLIP-seq
MIRT1176684	hsa-miR-367	CLIP-seq
MIRT2578771	hsa-miR-3679-3p	CLIP-seq
MIRT2578772	hsa-miR-3690	CLIP-seq
MIRT2578773	hsa-miR-376a	CLIP-seq
MIRT2578774	hsa-miR-376b	CLIP-seq
MIRT2578775	hsa-miR-3909	CLIP-seq
MIRT2578776	hsa-miR-3913-5p	CLIP-seq
MIRT2578777	hsa-miR-3960	CLIP-seq
MIRT2578778	hsa-miR-409-3p	CLIP-seq
MIRT2578779	hsa-miR-4254	CLIP-seq
MIRT1176690	hsa-miR-4277	CLIP-seq
MIRT2280313	hsa-miR-4279	CLIP-seq
MIRT2578780	hsa-miR-4298	CLIP-seq
MIRT2578781	hsa-miR-432	CLIP-seq
MIRT2578782	hsa-miR-4320	CLIP-seq
MIRT2578783	hsa-miR-4425	CLIP-seq
MIRT2578784	hsa-miR-4428	CLIP-seq
MIRT2280314	hsa-miR-4443	CLIP-seq
MIRT2578785	hsa-miR-4446-5p	CLIP-seq
MIRT2578786	hsa-miR-4525	CLIP-seq
MIRT2578787	hsa-miR-4639-5p	CLIP-seq
MIRT1176695	hsa-miR-4652-3p	CLIP-seq
MIRT2578788	hsa-miR-4658	CLIP-seq
MIRT2051184	hsa-miR-4659a-3p	CLIP-seq
MIRT2051185	hsa-miR-4659b-3p	CLIP-seq
MIRT2578789	hsa-miR-4665-5p	CLIP-seq
MIRT2578790	hsa-miR-4677-3p	CLIP-seq
MIRT2578791	hsa-miR-4679	CLIP-seq
MIRT2280316	hsa-miR-4691-5p	CLIP-seq
MIRT2578792	hsa-miR-4723-5p	CLIP-seq
MIRT2280317	hsa-miR-4742-3p	CLIP-seq
MIRT2578793	hsa-miR-4763-3p	CLIP-seq
MIRT1176702	hsa-miR-4777-5p	CLIP-seq
MIRT2578794	hsa-miR-4778-3p	CLIP-seq
MIRT2578795	hsa-miR-515-5p	CLIP-seq
MIRT1176711	hsa-miR-518d-5p	CLIP-seq
MIRT1176712	hsa-miR-519b-5p	CLIP-seq
MIRT1176713	hsa-miR-519c-5p	CLIP-seq
MIRT1176714	hsa-miR-520c-5p	CLIP-seq
MIRT1176715	hsa-miR-526a	CLIP-seq
MIRT2578796	hsa-miR-548g	CLIP-seq
MIRT2578797	hsa-miR-574-5p	CLIP-seq
MIRT2578798	hsa-miR-612	CLIP-seq
MIRT2578799	hsa-miR-625	CLIP-seq
MIRT2280324	hsa-miR-650	CLIP-seq
MIRT2578800	hsa-miR-658	CLIP-seq
MIRT2280326	hsa-miR-659	CLIP-seq
MIRT2578801	hsa-miR-676	CLIP-seq
MIRT1176723	hsa-miR-92a	CLIP-seq
MIRT1176724	hsa-miR-92b	CLIP-seq
MIRT1176725	hsa-miR-944	CLIP-seq
MIRT2578801	hsa-miR-676	CLIP-seq
MIRT2578754	hsa-miR-1207-5p	CLIP-seq
MIRT2578755	hsa-miR-1225-3p	CLIP-seq
MIRT2578756	hsa-miR-1233	CLIP-seq
MIRT2578757	hsa-miR-1257	CLIP-seq
MIRT2578758	hsa-miR-1265	CLIP-seq
MIRT2578759	hsa-miR-1275	CLIP-seq
MIRT2578760	hsa-miR-1285	CLIP-seq
MIRT2578761	hsa-miR-129-3p	CLIP-seq
MIRT2578762	hsa-miR-1302	CLIP-seq
MIRT1176657	hsa-miR-1343	CLIP-seq
MIRT1176658	hsa-miR-137	CLIP-seq
MIRT2685919	hsa-miR-205	CLIP-seq
MIRT1176664	hsa-miR-25	CLIP-seq
MIRT2578763	hsa-miR-296-3p	CLIP-seq
MIRT2685920	hsa-miR-299-5p	CLIP-seq
MIRT1176665	hsa-miR-3074-5p	CLIP-seq
MIRT2578764	hsa-miR-3122	CLIP-seq
MIRT1176668	hsa-miR-3124-3p	CLIP-seq
MIRT2578765	hsa-miR-3187-5p	CLIP-seq
MIRT2578766	hsa-miR-3199	CLIP-seq
MIRT1176672	hsa-miR-32	CLIP-seq
MIRT1176676	hsa-miR-33a	CLIP-seq
MIRT1176677	hsa-miR-33b	CLIP-seq
MIRT2578767	hsa-miR-3605-5p	CLIP-seq
MIRT2280309	hsa-miR-3612	CLIP-seq
MIRT1176678	hsa-miR-3613-3p	CLIP-seq
MIRT2578768	hsa-miR-361-3p	CLIP-seq
MIRT2280310	hsa-miR-3614-3p	CLIP-seq
MIRT1176680	hsa-miR-363	CLIP-seq
MIRT2578769	hsa-miR-3655	CLIP-seq
MIRT2578770	hsa-miR-3659	CLIP-seq
MIRT1176684	hsa-miR-367	CLIP-seq
MIRT2578771	hsa-miR-3679-3p	CLIP-seq
MIRT2578772	hsa-miR-3690	CLIP-seq
MIRT2578773	hsa-miR-376a	CLIP-seq
MIRT2578774	hsa-miR-376b	CLIP-seq
MIRT2578775	hsa-miR-3909	CLIP-seq
MIRT2578776	hsa-miR-3913-5p	CLIP-seq
MIRT2578777	hsa-miR-3960	CLIP-seq
MIRT2578778	hsa-miR-409-3p	CLIP-seq
MIRT2578779	hsa-miR-4254	CLIP-seq
MIRT2280313	hsa-miR-4279	CLIP-seq
MIRT2578780	hsa-miR-4298	CLIP-seq
MIRT2578781	hsa-miR-432	CLIP-seq
MIRT2578782	hsa-miR-4320	CLIP-seq
MIRT2578783	hsa-miR-4425	CLIP-seq
MIRT2578784	hsa-miR-4428	CLIP-seq
MIRT2280314	hsa-miR-4443	CLIP-seq
MIRT2578785	hsa-miR-4446-5p	CLIP-seq
MIRT2578786	hsa-miR-4525	CLIP-seq
MIRT2578787	hsa-miR-4639-5p	CLIP-seq
MIRT1176695	hsa-miR-4652-3p	CLIP-seq
MIRT2578788	hsa-miR-4658	CLIP-seq
MIRT2051184	hsa-miR-4659a-3p	CLIP-seq
MIRT2051185	hsa-miR-4659b-3p	CLIP-seq
MIRT2578789	hsa-miR-4665-5p	CLIP-seq
MIRT2578790	hsa-miR-4677-3p	CLIP-seq
MIRT2578791	hsa-miR-4679	CLIP-seq
MIRT2280316	hsa-miR-4691-5p	CLIP-seq
MIRT2578792	hsa-miR-4723-5p	CLIP-seq
MIRT2280317	hsa-miR-4742-3p	CLIP-seq
MIRT2578793	hsa-miR-4763-3p	CLIP-seq
MIRT2578794	hsa-miR-4778-3p	CLIP-seq
MIRT2578795	hsa-miR-515-5p	CLIP-seq
MIRT2578796	hsa-miR-548g	CLIP-seq
MIRT2578797	hsa-miR-574-5p	CLIP-seq
MIRT2280323	hsa-miR-605	CLIP-seq
MIRT2578798	hsa-miR-612	CLIP-seq
MIRT2578799	hsa-miR-625	CLIP-seq
MIRT2280324	hsa-miR-650	CLIP-seq
MIRT2578800	hsa-miR-658	CLIP-seq
MIRT2280326	hsa-miR-659	CLIP-seq
MIRT2578801	hsa-miR-676	CLIP-seq
MIRT1176723	hsa-miR-92a	CLIP-seq
MIRT1176724	hsa-miR-92b	CLIP-seq
MIRT1176725	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000435	Process	Positive regulation of transcription from RNA polymerase II promoter by galactose	IDA	10207113
GO:0000785	Component	Chromatin	IDA	15831516, 17363140
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0002155	Process	Regulation of thyroid hormone mediated signaling pathway	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	10207113
GO:0003713	Function	Transcription coactivator activity	NAS	15774904
GO:0004402	Function	Histone acetyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	9556555, 10207113, 11682626, 12403843, 12578355, 12917342, 14684751, 14698205, 15367689, 16282588, 16456540, 16606617, 16957778, 17254542, 17363140, 17476305, 17627277, 17641689, 17673910, 18391212, 19039327, 19786558, 20203100, 20543827, 20682316, 21454491, 21478865, 23602807, 2521
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0007595	Process	Lactation	IEA
GO:0008584	Process	Male gonad development	IEA
GO:0015721	Process	Bile acid and bile salt transport	TAS
GO:0016922	Function	Nuclear receptor binding	IBA	21873635
GO:0016922	Function	Nuclear receptor binding	IPI	17363140, 18798693
GO:0017162	Function	Aryl hydrocarbon receptor binding	IPI	15641800
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0019899	Function	Enzyme binding	IPI	12039952
GO:0021549	Process	Cerebellum development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030331	Function	Estrogen receptor binding	IPI	18563714
GO:0030374	Function	Nuclear receptor coactivator activity	IBA	21873635
GO:0030374	Function	Nuclear receptor coactivator activity	IDA	15919756, 17363140
GO:0032355	Process	Response to estradiol	IEA
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032570	Process	Response to progesterone	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IBA	21873635
GO:0032991	Component	Protein-containing complex	IMP	15641800
GO:0033142	Function	Progesterone receptor binding	IEA
GO:0035257	Function	Nuclear hormone receptor binding	IDA	10207113
GO:0043005	Component	Neuron projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043967	Process	Histone H4 acetylation	IEA
GO:0044849	Process	Estrous cycle	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11891224, 15367689
GO:0045925	Process	Positive regulation of female receptivity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9223431, 15919756
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	15774904
GO:0046965	Function	Retinoid X receptor binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0047485	Function	Protein N-terminus binding	IPI	12917342
GO:0060179	Process	Male mating behavior	IEA
GO:0060713	Process	Labyrinthine layer morphogenesis	IEA
GO:1904017	Process	Cellular response to Thyroglobulin triiodothyronine	IEA
GO:2001038	Process	Regulation of cellular response to drug	IEA

Other IDs

• MIM: 602691
• HGNC: 7668
• e!Ensembl: ENSG00000084676

Protein

• UniProt ID: Q15788
• Protein name: Nuclear receptor coactivator 1 (NCoA-1) (EC 2.3.1.48) (Class E basic helix-loop-helix protein 74) (bHLHe74) (Protein Hin-2) (RIP160) (Renal carcinoma antigen NY-REN-52) (Steroid receptor coactivator 1) (SRC-1)
• Protein function: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER),
• PDB: 1FM6, 1FM9, 1K4W, 1K74, 1K7L, 1KV6, 1N4H, 1NQ7, 1NRL, 1P8D, 1PZL, 1RDT, 1TFC, 1U3R, 1U3S, 1X76, 1X78, 1X7B, 1X7J, 1XIU, 1XV9, 1XVP, 1YY4, 1YYE, 1ZAF, 2A3I, 2C52, 2FVJ, 2GTK, 2HBH, 2HC4, 2HCD, 2HFP, 2NPA, 2NV7, 2P54, 2PRG, 3BEJ, 3BQD, 3CTB, 3CWD, 3DCT, 3DCU, 3DR1, 3ET1, 3ET3, 3FEI, 3FEJ, 3FUR, 3FXV, 3G8I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	26 → 81	Helix-loop-helix DNA-binding domain	Domain
  PF00989	PAS	112 → 185	PAS fold	Domain
  PF14598	PAS_11	259 → 370		Domain
  PF16665	NCOA_u2	467 → 590		Disordered
  PF08832	SRC-1	628 → 708	Steroid receptor coactivator	Domain
  PF08815	Nuc_rec_co-act	924 → 971	Nuclear receptor coactivator	Domain
  PF07469	DUF1518	1149 → 1205	Domain of unknown function (DUF1518)	Domain
  PF07469	DUF1518	1212 → 1268	Domain of unknown function (DUF1518)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15313887, ECO:0000269|PubMed:9427757}.
• Sequence:

  MSGLGDSSSDPANPDSHKRKGSPCDTLASSTEKRRREQENKYLEELAELLSANISDIDSL
  SVKPDKCKILKKTVDQIQLMKRMEQEKSTTDDDVQKSDISSSSQGVIEKESLGPLLLEAL
  DGFFFVVNCEGRIVFVSENVTSYLGYNQEELMNTSVYSILHVGDHAEFVKNLLPKSLVNG
  VPWPQEATRRNSHTFNCRMLIHPPDEPGTENQEACQRYEVMQCFTVSQPKSIQEDGEDFQ
  SCLICIARRLPRPPAITGVESFMTKQDTTGKIISIDTSSLRAAGRTGWEDLVRKCIYAFF
  QPQGREPSYARQLFQEVMTRGTASSPSYRFILNDGTMLSAHTKCKLCYPQSPDMQPFIMG
  IHIIDREHSGLSPQDDTNSGMSIPRVNPSVNPSISPAHGVARSSTLPPSNSNMVSTRINR
  QQSSDLHSSSHSNSSNSQGSFGCSPGSQIVANVALNQGQASSQSSNPSLNLNNSPMEGTG
  ISLAQFMSPRRQVTSGLATRPRMPNNSFPPNISTLSSPVGMTSSACNNNNRSYSNIPVTS
  LQGMNEGPNNSVGFSASSPVLRQMSSQNSPSRLNIQPAKAESKDNKEIASILNEMIQSDN
  SSSDGKPLDSGLLHNNDRLSDGDSKYSQTSHKLVQLLTTTAEQQLRHADIDTSCKDVLSC
  TGTSNSASANSSGGSCPSSHSSLTERHKILHRLLQEGSPSDITTLSVEPDKKDSASTSVS
  VTGQVQGNSSIKLELDASKKKESKDHQLLRYLLDKDEKDLRSTPNLSLDDVKVKVEKKEQ
  MDPCNTNPTPMTKPTPEEIKLEAQSQFTADLDQFDQLLPTLEKAAQLPGLCETDRMDGAV
  TSVTIKSEILPASLQSATARPTSRLNRLPELELEAIDNQFGQPGTGDQIPWTNNTVTAIN
  QSKSEDQCISSQLDELLCPPTTVEGRNDEKALLEQLVSFLSGKDETELAELDRALGIDKL
  VQGGGLDVLSERFPPQQATPPLIMEERPNLYSQPYSSPSPTANLPSPFQGMVRQKPSLGT
  MPVQVTPPRGAFSPGMGMQPRQTLNRPPAAPNQLRLQLQQRLQGQQQLIHQNRQAILNQF
  AATAPVGINMRSGMQQQITPQPPLNAQMLAQRQRELYSQQHRQRQLIQQQRAMLMRQQSF
  GNNLPPSSGLPVQMGNPRLPQGAPQQFPYPPNYGTNPGTPPASTSPFSQLAANPEASLAN
  RNSMVSRGMTGNIGGQFGTGINPQMQQNVFQYPGAGMVPQGEANFAPSLSPGSSMVPMPI
  PPPQSSLLQQTPPASGYQSPDMKAWQQGAIGNNNVFSQAVQNQPTPAQPGVYNNMSITVS
  MAGGNTNVQNMNPMMAQMQMSSLQMPGMNTVCPEQINDPALRHTGLYCNQLSSTDLLKTE
  ADGTQQVQQVQVFADVQCTVNLVGGDPYLNQPGPLGTQKPTSGPQTPQAQQKSLLQQLLT
  E

• Sequence length: 1441

Pathways

KEGG:

Estrogen signaling pathway
Thyroid hormone signaling pathway
Pathways in cancer
Breast cancer

Reactome:

RORA activates gene expression
Recycling of bile acids and salts
Synthesis of bile acids and bile salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
PPARA activates gene expression
Endogenous sterols
Transcriptional activation of mitochondrial biogenesis
Activation of gene expression by SREBF (SREBP)
HATs acetylate histones
Transcriptional regulation of white adipocyte differentiation
SUMOylation of transcription cofactors
Regulation of lipid metabolism by PPARalpha
Circadian Clock
Estrogen-dependent gene expression
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	20332317
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	20332317, 29058716
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	20332317
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	12237244

Unknown
Disease term	Disease name	Evidence	References	Source
Endometriosis	Endometriosis		22138541	ClinVar
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome			GWAS
Lung adenocarcinoma	Lung adenocarcinoma	Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors		GWAS, CBGDA
Nasal polyposis	Nasal polyposis			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bipolar Disorder	Associate	27468165
Bone Diseases	Associate	22174377
Breast Neoplasms	Associate	10688660, 15477868, 19755984, 20003447, 24304549, 24719557, 26621841, 27107013, 28973975
Breast Neoplasms	Inhibit	24705462
Carcinoma	Associate	34067464
Carcinoma Hepatocellular	Associate	28060733
Colorectal Neoplasms	Associate	32764874
Coronary Aneurysm	Associate	24652666
Diabetes Mellitus Type 1	Associate	33083497
Diabetic Nephropathies	Associate	32922187
Diarrhea	Associate	35137184
Endocrine System Diseases	Associate	35137184
Endometrial Hyperplasia	Associate	14601091
Endometrial Neoplasms	Associate	14601091
Ependymoma	Associate	33576087, 34389065
Esophageal Neoplasms	Associate	30270520
Esophageal Squamous Cell Carcinoma	Associate	30270520
Fractures Multiple	Associate	35137184
Glioma	Associate	27560795
Hereditary Angioedema Type III	Associate	19423651
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23936147
Hyperphagia	Associate	35137184
Hypoxia	Inhibit	27560795
Hypoxia Brain	Associate	27560795
Inflammation	Associate	24438340
Kidney Neoplasms	Associate	33574497
Liver Cirrhosis	Associate	35137184
Lymphoma Non Hodgkin	Associate	28264017
Malignant Teratocarcinosarcoma	Associate	26371783
Menorrhagia	Associate	35137184
Mental Disorders	Associate	27468165
Mucocutaneous Lymph Node Syndrome	Associate	24652666
Multiple Myeloma	Associate	28264017
Neoplasm Metastasis	Associate	37378426
Neoplasms	Associate	18845648, 23044996, 24438340, 25081647, 28060733, 31008539, 32187044, 33481105, 33576087, 38000680
Neoplasms Adipose Tissue	Associate	35137184
Obesity	Associate	35137184
Ossification of Posterior Longitudinal Ligament	Associate	17702747
Osteopenic Nonfracture Syndrome	Associate	22174377
Osteoporosis	Associate	40603950
Ovarian Neoplasms	Associate	31464709, 38000680
Prostatic Neoplasms	Associate	12163482, 24705462
Pulmonary Disease Chronic Obstructive	Inhibit	40655182
Rhabdomyosarcoma	Associate	19953635, 32187044
Rhabdomyosarcoma Alveolar	Associate	26371783, 36232302
Sarcoma	Associate	33574497
Supratentorial Neoplasms	Associate	34389065
Thyroid Hormone Resistance Syndrome	Associate	35137184
Urethral Neoplasms	Associate	18845648
Urinary Bladder Neoplasms	Associate	18845648
Uterine Neoplasms	Associate	31464709, 38000680
Wounds and Injuries	Associate	35137184