• Gene id: 2494

Gene Summary

• Gene Symbol: NR5A2   Gene   UCSC   Ensembl
• Aliases: B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F-2
• Gene name: nuclear receptor subfamily 5 group A member 2
• Alternate names: nuclear receptor subfamily 5 group A member 2, CYP7A promoter-binding factor, b1-binding factor, hepatocyte transcription factor which activates enhancer II of hepatitis B virus, fetoprotein-alpha 1 (AFP) transcription factor, hepatocytic transcription fa,
• Gene location: 1q32.1 (200027601: 200177423)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 604453

Protein Summary

• Protein general information: O00482  
  • 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)
  • Length: 541  
  • Mass: 61,331
  • Tissue specificity: Expressed in testis. {ECO
• Sequence:

  MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVN
  YSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVG
  MKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPL
  NHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPAS
  IPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQM
  KLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVC
  LKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGD
  VPYNNLLIEMLHAKRA

• Structural information:
  • Protein Domains: NR (300-539)
  • Interpro: IPR035500  IPR016355  IPR000536  IPR001723  IPR001628   IPR013088  
  • Prosite: PS51843 PS00031 PS51030
  • PDB: 1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8 4ONI 4PLD 4PLE 4RWV 5L0M 5L11 5SYZ 5UNJ
  • PDBsum: 1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8 4ONI 4PLD 4PLE 4RWV 5L0M 5L11 5SYZ 5UNJ
  • DIP: 37952
  • STRING: ENSP00000356331
• Other Databases: GeneCards:  NR5A2  Malacards:  NR5A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	ISS	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0009790	embryo development	TAS	biological process
GO:0009888	tissue development	IBA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045070	positive regulation of viral genome replication	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0061113	pancreas morphogenesis	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	ISS	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	IEA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	ISS	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	TAS	molecular function
GO:0003707	steroid hormone receptor activity	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	IEA	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0008206	bile acid metabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0009790	embryo development	TAS	biological process
GO:0009888	tissue development	IBA	biological process
GO:0030522	intracellular receptor signaling pathway	IEA	biological process
GO:0030855	epithelial cell differentiation	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045070	positive regulation of viral genome replication	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0061113	pancreas morphogenesis	IEA	biological process
GO:0090575	RNA polymerase II transcription factor complex	IEA	cellular component
GO:0090575	RNA polymerase II transcription factor complex	ISS	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IBA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	ISS	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003682	chromatin binding	ISS	molecular function
GO:0003682	chromatin binding	IBA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	TAS	molecular function
GO:0004879	RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0009790	embryo development	TAS	biological process
GO:0009888	tissue development	IBA	biological process
GO:0042592	homeostatic process	NAS	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045070	positive regulation of viral genome replication	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0090575	RNA polymerase II transcription factor complex	ISS	cellular component
GO:0090575	RNA polymerase II transcription factor complex	IBA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Cancer (pancreatic)	GAD: 20101243
Osteoporosis	GAD: 19629617
Bone diseases	GAD: 17903296
Premature ovarian insufficiency (POI)	INFBASE: 24405868
Endometriosis	INFBASE: 26530052
46, XY disorder of sex development	MIK: 24405868
46,XY Disorders of Sex Development (DSD)	MIK: 24405868
Primary ovarian insufficiency	MIK: 24405868
May have important effects on estrogen production, testis development, spermatogenesis, and testicular carcinogenesis	MIK: 14736734
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24405868	46,XY DSD, primary ovarian insufficiency	c.195G > A (p.Cys65Tyr )		346,XY DSD, 1primary ovarian insufficiency	Male infertility, Female infertility	FSH LH ACTH
14736734	May have important effects on estrogen production, testis development, spermatogenesis, and testicular carcinogenesis				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R