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Gene id

2494

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 factor,

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 cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]

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: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.

Sequence

MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVN
YSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVG
MKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPL
NHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPAS
IPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQM
KLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVC
LKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGD
VPYNNLLIEMLHAKRA

Structural information

Motifs	FTZ-F1 box.(155-184)
Interpro:	IPR016355 IPR000536 IPR001723 IPR001628 IPR013088
Prosite:	PS00031 PS51030
Pfam:	PF00104 PF00105
PDB:	1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8 4ONI 4PLD 4PLE 4RWV 5L0M 5L11 5SYZ
PDBsum:	1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8 4ONI 4PLD 4PLE 4RWV 5L0M 5L11 5SYZ
DIP:	37952
MINT:	2997724
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 pr omoter proximal region se quence-specific DNA bindi ng	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	ISS	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c 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 acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	TAS	molecular_function
GO:0003707	steroid hormone receptor activity	IEA	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-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 transcripti on, DNA-templated	IDA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0008206	bile acid metabolic proce ss	IEA	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0009790	embryo development	TAS	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0042127	regulation of cell prolif eration	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 bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045070	positive regulation of vi ral genome replication	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0061113	pancreas morphogenesis	IEA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	IBA	cellular_component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular_function
GO:0000978	RNA polymerase II core pr omoter proximal region se quence-specific DNA bindi ng	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	IEA	molecular_function
GO:0000980	RNA polymerase II distal enhancer sequence-specifi c DNA binding	ISS	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c 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 bindi ng	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	TAS	molecular_function
GO:0003707	steroid hormone receptor activity	IEA	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-activated sequence- specific DNA binding	IEA	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-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-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0008206	bile acid metabolic proce ss	IEA	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0008289	lipid binding	IEA	molecular_function
GO:0009755	hormone-mediated signalin g pathway	IBA	biological_process
GO:0009790	embryo development	TAS	biological_process
GO:0009888	tissue development	IBA	biological_process
GO:0030522	intracellular receptor si gnaling pathway	IEA	biological_process
GO:0030855	epithelial cell different iation	IEA	biological_process
GO:0042127	regulation of cell prolif eration	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 bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045070	positive regulation of vi ral genome replication	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase 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 transcr iption factor complex	IEA	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption 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-specifi c 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 acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	TAS	molecular_function
GO:0004879	RNA polymerase II transcr iption factor activity, l igand-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 transcripti on, DNA-templated	IDA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006367	transcription initiation from RNA polymerase II pr omoter	TAS	biological_process
GO:0009755	hormone-mediated signalin g 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 bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0045070	positive regulation of vi ral genome replication	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	TAS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IBA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:0090575	RNA polymerase II transcr iption factor complex	IBA	cellular_component

KEGG pathways

hsa04950 Maturity onset diabetes of the young

Diseases

Associated diseases	References
Cancer	PMID: 20101243
Endometriosis	PMID: 26530052
Endometriosis	INFBASE26530052
Osteoporosis	PMID: 19629617
Primary ovarian insufficiency (POI)	PMID: 24405868

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26530052	Endometrio sis			44 (16 patients with endometri osis and 28 con trols)	Female infertility	CYP19 PII LRH-1 and SF-1	Show abstract