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NR5A2 nuclear receptor subfamily 5 group A member 2 [ Homo sapiens (human) ]

Gene ID: 2494, updated on 3-Jun-2018
Official Symbol
NR5A2provided by HGNC
Official Full Name
nuclear receptor subfamily 5 group A member 2provided by HGNC
Primary source
HGNC:HGNC:7984
See related
Ensembl:ENSG00000116833 MIM:604453; Vega:OTTHUMG00000035635
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B1F; CPF; FTF; B1F2; LRH1; LRH-1; FTZ-F1; hB1F-2; FTZ-F1beta
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 cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
Expression
Biased expression in liver (RPKM 6.4), small intestine (RPKM 5.8) and 13 other tissues See more
Orthologs
See NR5A2 in Genome Data Viewer
Location:
1q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (200027602..200177424)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (199996730..200146552)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 716, pseudogene Neighboring gene RNA, U6 small nuclear 609, pseudogene Neighboring gene RNA, U6 small nuclear 570, pseudogene Neighboring gene heart enhancer 1 Neighboring gene uncharacterized LOC107985244 Neighboring gene collagen type XXII alpha 1 chain pseudogene Neighboring gene CCNQ pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 862

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
NHGRI GWA Catalog
A genome-wide association study of serum uric acid in African Americans.
NHGRI GWA Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
    Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
    Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...
  • Nuclear Receptors, organism-specific biosystem (from WikiPathways)
    Nuclear Receptors, organism-specific biosystemNuclear receptors are a class of proteins found within the interior of cells that are responsible for sensing the presence of steroid and thyroid hormones and certain other molecules. In response, th...
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in early pancreatic precursor cells, organism-specific biosystemThe properties of transcriptional networks early in the differentiation of human pancreatic cells are inferred from the properties of well-studied networks in mouse models. In mice, the first visible...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II distal enhancer sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear receptor activity TAS
Traceable Author Statement
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone receptor activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding TAS
Traceable Author Statement
more info
PubMed 
transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
calcineurin-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
 
embryo development ending in birth or egg hatching TAS
Traceable Author Statement
more info
PubMed 
epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
homeostatic process NAS
Non-traceable Author Statement
more info
PubMed 
hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
pancreas morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
positive regulation of viral genome replication IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
steroid hormone mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
nuclear receptor subfamily 5 group A member 2
Names
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 hB1F-3
liver nuclear receptor homolog-1 variant 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050913.1 RefSeqGene

    Range
    5001..154823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276464.1NP_001263393.1  nuclear receptor subfamily 5 group A member 2 isoform 3

    See identical proteins and their annotated locations for NP_001263393.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate exon in place of the first two exons compared to variant 1. The resulting isoform (3) uses a downstream translation start site and has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC096633, AF146343, AK304365, CA776772
    Consensus CDS
    CCDS60383.1
    UniProtKB/Swiss-Prot
    O00482
    Related
    ENSP00000439116.1, ENST00000544748.5
    Conserved Domains (2) summary
    cd07069
    Location:229469
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:14106
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  2. NM_003822.4NP_003813.1  nuclear receptor subfamily 5 group A member 2 isoform 2

    See identical proteins and their annotated locations for NP_003813.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC096633, AF146343, CA776772, U93553
    Consensus CDS
    CCDS1400.1
    UniProtKB/Swiss-Prot
    O00482
    UniProtKB/TrEMBL
    F1D8R9
    Related
    ENSP00000236914.3, OTTHUMP00000033646, ENST00000236914.7, OTTHUMT00000086499
    Conserved Domains (2) summary
    cd07069
    Location:255495
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:40132
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  3. NM_205860.2NP_995582.1  nuclear receptor subfamily 5 group A member 2 isoform 1

    See identical proteins and their annotated locations for NP_995582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC096633, AF124247, AF146343, CA776772, U93553
    Consensus CDS
    CCDS1401.1
    UniProtKB/Swiss-Prot
    O00482
    Related
    ENSP00000356331.3, OTTHUMP00000033644, ENST00000367362.7, OTTHUMT00000086497
    Conserved Domains (2) summary
    cd07069
    Location:301541
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:86178
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    200027602..200177424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509380.1XP_011507682.1  nuclear receptor subfamily 5 group A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011507682.1

    Conserved Domains (2) summary
    cd07069
    Location:261501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46138
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  2. XM_011509382.1XP_011507684.1  nuclear receptor subfamily 5 group A member 2 isoform X2

    See identical proteins and their annotated locations for XP_011507684.1

    UniProtKB/Swiss-Prot
    O00482
    Conserved Domains (2) summary
    cd07069
    Location:229469
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:14106
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  3. XM_011509381.3XP_011507683.1  nuclear receptor subfamily 5 group A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011507683.1

    Conserved Domains (2) summary
    cd07069
    Location:261501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46138
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  4. XM_011509384.2XP_011507686.1  nuclear receptor subfamily 5 group A member 2 isoform X1

    See identical proteins and their annotated locations for XP_011507686.1

    Conserved Domains (2) summary
    cd07069
    Location:261501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46138
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  5. XM_017000904.1XP_016856393.1  nuclear receptor subfamily 5 group A member 2 isoform X1

    Conserved Domains (2) summary
    cd07069
    Location:261501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46138
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
  6. XM_005245062.3XP_005245119.1  nuclear receptor subfamily 5 group A member 2 isoform X2

    See identical proteins and their annotated locations for XP_005245119.1

    UniProtKB/Swiss-Prot
    O00482
    Conserved Domains (2) summary
    cd07069
    Location:229469
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:14106
    NR_DBD_Lrh-1_like; The DNA-binding domain of Lrh-1 like nuclear receptor family like is composed of two C4-type zinc fingers
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