Gene Gene information from NCBI Gene database.
Entrez ID 2494
Gene name Nuclear receptor subfamily 5 group A member 2
Gene symbol NR5A2
Synonyms (NCBI Gene)
B1FB1F2CPFFTFFTZ-F1FTZ-F1betaLRH-1LRH1hB1F-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 miRNA information provided by mirtarbase database.
166
miRTarBase ID miRNA Experiments Reference
MIRT023720 hsa-miR-1-3p Microarray 18668037
MIRT054410 hsa-miR-139-5p Luciferase reporter assayqRT-PCRWestern 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
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
CREB1 Activation 18191017
ESR1 Unknown 16091743
FOXA2 Activation 11595170
NR5A2 Activation 18191017
PROX1 Repression 19264593
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
100
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 15205472
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604453 7984 ENSG00000116833
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line (PubMed:9786908). Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells (PubMed:103597
Sequence
MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQG
QMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRY
TCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKL
EAVRADRMRGGRNKFGPMYKRDRALKQ
QKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPF
VTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPAS
IPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWA
RSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQA
GATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAA
LLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLN
GDVPYNNLLIEMLHAKR
A
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Maturity onset diabetes of the young   Nuclear Receptor transcription pathway
SUMOylation of intracellular receptors
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Likely benign rs139624279 RCV000207435
Long QT syndrome Likely benign rs774872040 RCV000190193
Premature ovarian failure Conflicting classifications of pathogenicity rs749896579 RCV001270190
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 30044146
Adenocarcinoma Associate 27586588, 30273983
Barrett Esophagus Associate 27586588
Bone Diseases Metabolic Associate 19629617
Breast Neoplasms Associate 16091743, 23667258, 24785096, 32005108, 37551622
Breast Neoplasms Stimulate 22359603
Carcinogenesis Associate 25675535, 9786908
Carcinoma Ductal Breast Associate 16091743
Carcinoma Hepatocellular Associate 37204028
Carcinoma Non Small Cell Lung Associate 30273983