NR5A2 (nuclear receptor subfamily 5 group A member 2)

Gene

• Entrez ID: 2494
• Gene name: Nuclear receptor subfamily 5 group A member 2
• Gene symbol: NR5A2
• Synonyms: B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F-2
• Chromosome: 1
• Chromosome location: 1q32.1
• Summary: The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cho

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023720	hsa-miR-1-3p	Microarray	18668037
MIRT054410	hsa-miR-139-5p	Luciferase reporter assay, qRT-PCR, Western blot	24204738
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731579	hsa-miR-376c-3p	Luciferase reporter assay	27049310
MIRT731758	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27809310
MIRT731758	hsa-miR-27b-3p	Luciferase reporter assay, qRT-PCR, Western blot	27809310
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT446057	hsa-miR-548aa	PAR-CLIP	22100165
MIRT446056	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT446055	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT446054	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT446053	hsa-miR-653-5p	PAR-CLIP	22100165
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193009	hsa-miR-1303	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT1193011	hsa-miR-3123	CLIP-seq
MIRT1193012	hsa-miR-3614-5p	CLIP-seq
MIRT1193013	hsa-miR-3925-5p	CLIP-seq
MIRT1193014	hsa-miR-3978	CLIP-seq
MIRT1193015	hsa-miR-4291	CLIP-seq
MIRT1193016	hsa-miR-4432	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193018	hsa-miR-4709-5p	CLIP-seq
MIRT1193019	hsa-miR-4714-3p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193021	hsa-miR-499-5p	CLIP-seq
MIRT1193022	hsa-miR-505	CLIP-seq
MIRT1193023	hsa-miR-545	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT1193025	hsa-miR-103a	CLIP-seq
MIRT1193026	hsa-miR-107	CLIP-seq
MIRT1193027	hsa-miR-1185	CLIP-seq
MIRT1193028	hsa-miR-1224-5p	CLIP-seq
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193029	hsa-miR-1265	CLIP-seq
MIRT1193030	hsa-miR-1272	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193031	hsa-miR-1275	CLIP-seq
MIRT1193032	hsa-miR-1301	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT1193033	hsa-miR-200b	CLIP-seq
MIRT1193034	hsa-miR-200c	CLIP-seq
MIRT1193035	hsa-miR-2114	CLIP-seq
MIRT1193036	hsa-miR-2116	CLIP-seq
MIRT1193037	hsa-miR-2355-3p	CLIP-seq
MIRT1193038	hsa-miR-3121-5p	CLIP-seq
MIRT1193039	hsa-miR-33a	CLIP-seq
MIRT1193040	hsa-miR-33b	CLIP-seq
MIRT1193041	hsa-miR-3605-5p	CLIP-seq
MIRT1193042	hsa-miR-3675-5p	CLIP-seq
MIRT1193043	hsa-miR-3679-5p	CLIP-seq
MIRT1193044	hsa-miR-374c	CLIP-seq
MIRT1193045	hsa-miR-3915	CLIP-seq
MIRT1193046	hsa-miR-3929	CLIP-seq
MIRT1193047	hsa-miR-429	CLIP-seq
MIRT1193048	hsa-miR-4419b	CLIP-seq
MIRT1193049	hsa-miR-4433	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193050	hsa-miR-4478	CLIP-seq
MIRT1193051	hsa-miR-450b-5p	CLIP-seq
MIRT1193052	hsa-miR-451b	CLIP-seq
MIRT1193053	hsa-miR-4525	CLIP-seq
MIRT1193054	hsa-miR-4649-3p	CLIP-seq
MIRT1193055	hsa-miR-4659a-3p	CLIP-seq
MIRT1193056	hsa-miR-4659b-3p	CLIP-seq
MIRT1193057	hsa-miR-4665-5p	CLIP-seq
MIRT1193058	hsa-miR-4677-5p	CLIP-seq
MIRT1193059	hsa-miR-4689	CLIP-seq
MIRT1193060	hsa-miR-4699-5p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193061	hsa-miR-4723-5p	CLIP-seq
MIRT1193062	hsa-miR-485-5p	CLIP-seq
MIRT1193063	hsa-miR-5047	CLIP-seq
MIRT1193064	hsa-miR-507	CLIP-seq
MIRT1193065	hsa-miR-526b	CLIP-seq
MIRT1193066	hsa-miR-548a-5p	CLIP-seq
MIRT1193067	hsa-miR-548ab	CLIP-seq
MIRT1193068	hsa-miR-548ak	CLIP-seq
MIRT1193069	hsa-miR-548b-5p	CLIP-seq
MIRT1193070	hsa-miR-548c-5p	CLIP-seq
MIRT1193071	hsa-miR-548d-5p	CLIP-seq
MIRT1193072	hsa-miR-548h	CLIP-seq
MIRT1193073	hsa-miR-548i	CLIP-seq
MIRT1193074	hsa-miR-548j	CLIP-seq
MIRT1193075	hsa-miR-548k	CLIP-seq
MIRT1193076	hsa-miR-548l	CLIP-seq
MIRT1193077	hsa-miR-548w	CLIP-seq
MIRT1193078	hsa-miR-548y	CLIP-seq
MIRT1193079	hsa-miR-554	CLIP-seq
MIRT1193080	hsa-miR-557	CLIP-seq
MIRT1193081	hsa-miR-559	CLIP-seq
MIRT1193082	hsa-miR-625	CLIP-seq
MIRT1193083	hsa-miR-655	CLIP-seq
MIRT1193084	hsa-miR-665	CLIP-seq
MIRT1193085	hsa-miR-676	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT2056030	hsa-miR-300	CLIP-seq
MIRT2056031	hsa-miR-381	CLIP-seq
MIRT2056032	hsa-miR-4802-5p	CLIP-seq
MIRT1193006	hsa-miR-1225-3p	CLIP-seq
MIRT1193007	hsa-miR-1233	CLIP-seq
MIRT1193008	hsa-miR-1273e	CLIP-seq
MIRT1193031	hsa-miR-1275	CLIP-seq
MIRT2284687	hsa-miR-1285	CLIP-seq
MIRT1193010	hsa-miR-1827	CLIP-seq
MIRT2284688	hsa-miR-3187-5p	CLIP-seq
MIRT2284689	hsa-miR-3194-5p	CLIP-seq
MIRT2284690	hsa-miR-3607-5p	CLIP-seq
MIRT2284691	hsa-miR-3922-5p	CLIP-seq
MIRT1193046	hsa-miR-3929	CLIP-seq
MIRT1193048	hsa-miR-4419b	CLIP-seq
MIRT1193049	hsa-miR-4433	CLIP-seq
MIRT1193017	hsa-miR-4459	CLIP-seq
MIRT1193050	hsa-miR-4478	CLIP-seq
MIRT2284692	hsa-miR-4495	CLIP-seq
MIRT1193053	hsa-miR-4525	CLIP-seq
MIRT2284693	hsa-miR-4643	CLIP-seq
MIRT1193054	hsa-miR-4649-3p	CLIP-seq
MIRT1193057	hsa-miR-4665-5p	CLIP-seq
MIRT1193020	hsa-miR-4722-5p	CLIP-seq
MIRT1193061	hsa-miR-4723-5p	CLIP-seq
MIRT2284694	hsa-miR-4753-5p	CLIP-seq
MIRT1193062	hsa-miR-485-5p	CLIP-seq
MIRT2284695	hsa-miR-548c-3p	CLIP-seq
MIRT2284696	hsa-miR-612	CLIP-seq
MIRT1193082	hsa-miR-625	CLIP-seq
MIRT2284697	hsa-miR-661	CLIP-seq
MIRT1193084	hsa-miR-665	CLIP-seq
MIRT1193024	hsa-miR-940	CLIP-seq
MIRT2582527	hsa-miR-3158-5p	CLIP-seq
MIRT2582528	hsa-miR-3689a-5p	CLIP-seq
MIRT2582529	hsa-miR-3689b	CLIP-seq
MIRT2582530	hsa-miR-3689e	CLIP-seq
MIRT2582531	hsa-miR-3689f	CLIP-seq
MIRT2582532	hsa-miR-3714	CLIP-seq
MIRT2582533	hsa-miR-4677-3p	CLIP-seq
MIRT2582534	hsa-miR-4679	CLIP-seq
MIRT2582527	hsa-miR-3158-5p	CLIP-seq
MIRT2582528	hsa-miR-3689a-5p	CLIP-seq
MIRT2582529	hsa-miR-3689b	CLIP-seq
MIRT2582530	hsa-miR-3689e	CLIP-seq
MIRT2582531	hsa-miR-3689f	CLIP-seq
MIRT2582532	hsa-miR-3714	CLIP-seq
MIRT2582533	hsa-miR-4677-3p	CLIP-seq
MIRT2582534	hsa-miR-4679	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Activation	18191017
ESR1	Unknown	16091743
FOXA2	Activation	11595170
NR5A2	Activation	18191017
PROX1	Repression	19264593

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	15205472
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IDA	16289203
GO:0003682	Function	Chromatin binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15205472, 15723037, 16289203
GO:0004879	Function	Nuclear receptor activity	IDA	15205472
GO:0004879	Function	Nuclear receptor activity	TAS	16271724
GO:0005515	Function	Protein binding	IPI	12040021, 14701856, 15143342, 15205472, 17664281, 19264593
GO:0005543	Function	Phospholipid binding	IDA	15723037
GO:0005634	Component	Nucleus	IDA	15143342, 15205472
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	15205472
GO:0006355	Process	Regulation of transcription, DNA-templated	IDA	15723037
GO:0006355	Process	Regulation of transcription, DNA-templated	TAS	16289203
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0008206	Process	Bile acid metabolic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA	21873635
GO:0009792	Process	Embryo development ending in birth or egg hatching	TAS	16289203
GO:0009888	Process	Tissue development	IBA	21873635
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042592	Process	Homeostatic process	NAS	16289203
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	16289203
GO:0045070	Process	Positive regulation of viral genome replication	IDA	19264593
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	15143342
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15205472
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0061113	Process	Pancreas morphogenesis	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA	21873635
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS
GO:0097720	Process	Calcineurin-mediated signaling	IEA
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 604453
• HGNC: 7984
• e!Ensembl: ENSG00000116833

Protein

• UniProt ID: O00482
• Protein name: Nuclear receptor subfamily 5 group A member 2 (Alpha-1-fetoprotein transcription factor) (B1-binding factor) (hB1F) (CYP7A promoter-binding factor) (Hepatocytic transcription factor) (Liver receptor homolog 1) (LRH-1)
• Protein function: Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, a
• PDB: 1YOK, 1YUC, 1ZDU, 2A66, 3PLZ, 3TX7, 4DOR, 4DOS, 4IS8, 4ONI, 4PLD, 4PLE, 4RWV, 5L0M, 5L11, 5SYZ, 5UNJ, 6OQX, 6OQY, 6OR1, 6VC2, 6VIF, 7JYD, 7JYE, 7TT8, 8F8M, 8PKI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00105	zf-C4	84 → 153	Zinc finger, C4 type (two domains)	Domain
  PF00104	Hormone_recep	330 → 523	Ligand-binding domain of nuclear hormone receptor	Domain

• Sequence:

  MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQG
  QMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRY
  TCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQ
  QKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPF
  VTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPAS
  IPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWA
  RSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQA
  GATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAA
  LLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKR
  A

• Sequence length: 541

Pathways

KEGG:

Maturity onset diabetes of the young

Reactome:

Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Estrogen-dependent gene expression

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	28067908, 26192919
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	20512145
Pancreatic cancer	Malignant neoplasm of pancreas	rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431, rs200612497	20101243, 26098869
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26974007
Dyslipidemias	Dyslipidemias		29515023
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		29515023
Pancreatic neoplasm	Pancreatic Neoplasm		20101243, 26098869
Pancreatic carcinoma	Pancreatic carcinoma		29422604, 20101243
Subfertility	Subfertility, Female		17409375
Ulcerative colitis	Ulcerative Colitis		26974007, 23128233, 26192919, 28067908