Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2494
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 5 group A member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NR5A2
Synonyms (NCBI Gene) Gene synonyms aliases
B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F-2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Transcription factors
Transcription factor Regulation Reference
CREB1 Activation 18191017
ESR1 Unknown 16091743
FOXA2 Activation 11595170
NR5A2 Activation 18191017
PROX1 Repression 19264593
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604453 7984 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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome Anophthalmia-microphthalmia syndrome N/A N/A ClinVar
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease 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