U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 2494, updated on 3-Apr-2024

Summary

Go to the top of the page Help
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; AllianceGenome:HGNC:7984
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
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See NR5A2 in Genome Data Viewer
Location:
1q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (200027710..200177415)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (199284725..199434351)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (199996838..200146543)

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 H3K4me1 hESC enhancer GRCh37_chr1:199998502-199999002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:199999003-199999503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200005053-200005953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:200009541-200010343 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:200017388-200018327 Neighboring gene RNA, U6 small nuclear 570, pseudogene Neighboring gene heart enhancer 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:200049926-200050612 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:200050613-200051298 Neighboring gene uncharacterized LOC107985244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1668 Neighboring gene collagen type XXII alpha 1 chain pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2295 Neighboring gene NANOG hESC enhancer GRCh37_chr1:200193434-200193952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:200195876-200196563 Neighboring gene CCNQ pseudogene 1 Neighboring gene uncharacterized LOC124904479

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance. Michalek S, et al. EMBO Rep, 2022 Sep 5. PMID 35801407, Free PMC Article
  2. Nuclear receptor subfamily 5 group A member 2 (NR5A2): role in health and diseases. Sandhu N, et al. Mol Biol Rep, 2021 Dec. PMID 34643922
  3. Nuclear receptor NR5A2 negatively regulates cell proliferation and tumor growth in nervous system malignancies. Gkikas D, et al. Proc Natl Acad Sci U S A, 2021 Sep 28. PMID 34561301, Free PMC Article
  4. LRH-1 high expression in the ovarian granulosa cells of PCOS patients. Yang X, et al. Endocrine, 2021 Nov. PMID 34129175
  5. Nuclear-mitochondrial crosstalk: On the role of the nuclear receptor liver receptor homolog-1 (NR5A2) in the regulation of mitochondrial metabolism, cell survival, and cancer. Michalek S, et al. IUBMB Life, 2021 Mar. PMID 32931651

See all (183) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Aberrant phosphorylation of human LRH1 at serine 510 is predictable of hepatocellular carcinoma recurrence.
    Title: Aberrant phosphorylation of human LRH1 at serine 510 is predictable of hepatocellular carcinoma recurrence.
  2. Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia.
    Title: Nuclear receptor 5A2 regulation of Agrp underlies olanzapine-induced hyperphagia.
  3. MicroRNA-433-3p enhances chemosensitivity of glioma to cisplatin by downregulating NR5A2.
    Title: MicroRNA-433-3p enhances chemosensitivity of glioma to cisplatin by downregulating NR5A2.
  4. LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance.
    Title: LRH-1/NR5A2 interacts with the glucocorticoid receptor to regulate glucocorticoid resistance.
  5. Nuclear receptor subfamily 5 group A member 2 (NR5A2): role in health and diseases.
    Title: Nuclear receptor subfamily 5 group A member 2 (NR5A2): role in health and diseases.
  6. Nuclear-mitochondrial crosstalk: On the role of the nuclear receptor liver receptor homolog-1 (NR5A2) in the regulation of mitochondrial metabolism, cell survival, and cancer.
    Title: Nuclear-mitochondrial crosstalk: On the role of the nuclear receptor liver receptor homolog-1 (NR5A2) in the regulation of mitochondrial metabolism, cell survival, and cancer.
  7. NF-kappaB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
    Title: NF-κB Regulation of LRH-1 and ABCG5/8 Potentiates Phytosterol Role in the Pathogenesis of Parenteral Nutrition-Associated Cholestasis.
  8. Nuclear receptor NR5A2 negatively regulates cell proliferation and tumor growth in nervous system malignancies.
    Title: Nuclear receptor NR5A2 negatively regulates cell proliferation and tumor growth in nervous system malignancies.
  9. LRH-1 high expression in the ovarian granulosa cells of PCOS patients.
    Title: LRH-1 high expression in the ovarian granulosa cells of PCOS patients.
  10. GATA6 enhances the stemness of human colon cancer cells by creating a metabolic symbiosis through upregulating LRH-1 expression.
    Title: GATA6 enhances the stemness of human colon cancer cells by creating a metabolic symbiosis through upregulating LRH-1 expression.
Submit: New GeneRIF Correction See all GeneRIFs (131)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
EBI GWAS Catalog
A genome-wide association study of serum uric acid in African Americans.
EBI GWAS Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables nuclear receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nuclear receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables phospholipid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription coregulator binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in acinar cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in calcineurin-mediated signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in embryo development ending in birth or egg hatching TAS
Traceable Author Statement
more info
 PubMed 
involved_in homeostatic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in hormone-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in pancreas morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of viral genome replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tissue development IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of RNA polymerase II transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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
    5109..154814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001276464.2 → NP_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/TrEMBL
    B4E2M6, B6ZGU9
    Related
    ENSP00000439116.1, ENST00000544748.5
    Conserved Domains (2) summary
    cd07069
    Location:229 → 469
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:14 → 106
    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_003822.5 → NP_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
    Consensus CDS
    CCDS1400.1
    UniProtKB/TrEMBL
    B4E2M6, B6ZGU9, F1D8R9
    Related
    ENSP00000236914.3, ENST00000236914.7
    Conserved Domains (2) summary
    cd07069
    Location:255 → 495
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:40 → 132
    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_205860.3 → NP_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
    Consensus CDS
    CCDS1401.1
    UniProtKB/Swiss-Prot
    B4E2P3, O00482, O95642, Q147U3
    UniProtKB/TrEMBL
    Q9UEC0
    Related
    ENSP00000356331.3, ENST00000367362.8
    Conserved Domains (2) summary
    cd07069
    Location:301 → 541
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:86 → 178
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    200027710..200177415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416753.1 → XP_047272709.1  nuclear receptor subfamily 5 group A member 2 isoform X1

  2. XM_011509381.4 → XP_011507683.1  nuclear receptor subfamily 5 group A member 2 isoform X3

    See identical proteins and their annotated locations for XP_011507683.1

    UniProtKB/TrEMBL
    B4E2M6, B6ZGU9
    Conserved Domains (2) summary
    cd07069
    Location:261 → 501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46 → 138
    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_017000904.2 → XP_016856393.1  nuclear receptor subfamily 5 group A member 2 isoform X3

    UniProtKB/TrEMBL
    B4E2M6, B6ZGU9
    Conserved Domains (2) summary
    cd07069
    Location:261 → 501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46 → 138
    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_011509384.3 → XP_011507686.1  nuclear receptor subfamily 5 group A member 2 isoform X3

    See identical proteins and their annotated locations for XP_011507686.1

    UniProtKB/TrEMBL
    B4E2M6, B6ZGU9
    Conserved Domains (2) summary
    cd07069
    Location:261 → 501
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:46 → 138
    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_047416762.1 → XP_047272718.1  nuclear receptor subfamily 5 group A member 2 isoform X2

  6. XM_005245062.4 → XP_005245119.1  nuclear receptor subfamily 5 group A member 2 isoform X4

    See identical proteins and their annotated locations for XP_005245119.1

    UniProtKB/TrEMBL
    B4E2M6, B6ZGU9
    Conserved Domains (2) summary
    cd07069
    Location:229 → 469
    NR_LBD_Lrh-1; The ligand binding domain of the liver receptor homolog-1, a member of nuclear receptor superfamily,
    cd07167
    Location:14 → 106
    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    199284725..199434351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335750.1 → XP_054191725.1  nuclear receptor subfamily 5 group A member 2 isoform X3

  2. XM_054335749.1 → XP_054191724.1  nuclear receptor subfamily 5 group A member 2 isoform X3

  3. XM_054335752.1 → XP_054191727.1  nuclear receptor subfamily 5 group A member 2 isoform X3

  4. XM_054335751.1 → XP_054191726.1  nuclear receptor subfamily 5 group A member 2 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00482.2 GenPept UniProtKB/Swiss-Prot:O00482

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous