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] See more...

Aliases for NR5A2 Gene

Aliases for NR5A2 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 2 2 3 4 5
  • CYP7A Promoter-Binding Factor 3 4
  • LRH-1 3 4
  • FTF 3 4
  • B1F 3 4
  • CPF 3 4
  • B1-Binding Factor, Hepatocyte Transcription Factor Which Activates Enhancer II Of Hepatitis B Virus 3
  • Nuclear Receptor Subfamily 5, Group A, Member 2 2
  • Fetoprotein-Alpha 1 (AFP) Transcription Factor 3
  • Liver Nuclear Receptor Homolog-1 Variant 2 3
  • Alpha-1-Fetoprotein Transcription Factor 4
  • Hepatocytic Transcription Factor HB1F-3 3
  • Hepatocytic Transcription Factor 4
  • Liver Receptor Homolog 1 4
  • Liver Receptor Homolog-1 2
  • B1-Binding Factor 4
  • FTZ-F1beta 3
  • FTZ-F1 3
  • HB1F-2 3
  • B1F2 3
  • LRH1 3
  • HB1F 4

External Ids for NR5A2 Gene

Previous HGNC Symbols for NR5A2 Gene

  • FTF

Previous GeneCards Identifiers for NR5A2 Gene

  • GC01P197726
  • GC01P195455
  • GC01P196463
  • GC01P197285
  • GC01P196728
  • GC01P198263
  • GC01P171163

Summaries for NR5A2 Gene

Entrez Gene Summary for NR5A2 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 cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]

GeneCards Summary for NR5A2 Gene

NR5A2 (Nuclear Receptor Subfamily 5 Group A Member 2) is a Protein Coding gene. Diseases associated with NR5A2 include Hepatitis B and Hepatitis. Among its related pathways are Gene Expression and Regulation of beta-cell development. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NR5A1.

UniProtKB/Swiss-Prot Summary for NR5A2 Gene

  • Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity).

Gene Wiki entry for NR5A2 Gene

Additional gene information for NR5A2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NR5A2 Gene

Genomics for NR5A2 Gene

GeneHancer (GH) Regulatory Elements for NR5A2 Gene

Promoters and enhancers for NR5A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J200026 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 500.7 +1.4 1377 4.6 TCF12 NRF1 USF1 PHF8 ZIC2 ZBTB10 POLR2A ZBTB26 SAP30 ZEB1 NONHSAG003893.2 NR5A2 RNU6-570P RF00026-096
GH01J200038 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 4.7 +14.5 14498 9 TCF12 POLR2G USF1 NCOR1 ZIC2 TCF7 ZNF423 GABPA ZBTB26 RFX1 DDX59 NR5A2 RF00026-096 NONHSAG003893.2 RNU6-570P
GH01J199976 Enhancer 0.6 ENCODE 10.8 -50.7 -50738 1 ZBTB33 JUND RAD21 RXRA MAX HNF4A NR3C1 YY1 EGR1 FOXA1 RNU6-716P RNU6-609P NR5A2 RF01210-031
GH01J200101 Enhancer 1 FANTOM5 Ensembl ENCODE 5.6 +78.0 77981 8.4 ZNF384 RFX5 POLR2A GATA3 FOXA1 ZNF335 MYC DPF2 PRDM6 ATF2 RNU6-570P KIF14 NR5A2 piR-52079-020 RF00026-096
GH01J200081 Enhancer 0.5 Ensembl 10.8 +54.0 53999 2 WT1 FOS FEZF1 CHD7 POU5F1 NANOG SCRT2 EZH2 RNU6-570P NR5A2 RNU6-716P ZNF281 RF00026-096 piR-52079-020
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NR5A2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NR5A2

Top Transcription factor binding sites by QIAGEN in the NR5A2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPbeta

Genomic Locations for NR5A2 Gene

Genomic Locations for NR5A2 Gene
chr1:200,027,602-200,177,424
(GRCh38/hg38)
Size:
149,823 bases
Orientation:
Plus strand
chr1:199,996,730-200,146,552
(GRCh37/hg19)
Size:
149,823 bases
Orientation:
Plus strand

Genomic View for NR5A2 Gene

Genes around NR5A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR5A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR5A2 Gene

Proteins for NR5A2 Gene

  • Protein details for NR5A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00482-NR5A2_HUMAN
    Recommended name:
    Nuclear receptor subfamily 5 group A member 2
    Protein Accession:
    O00482
    Secondary Accessions:
    • B4E2P3
    • O95642
    • Q147U3

    Protein attributes for NR5A2 Gene

    Size:
    541 amino acids
    Molecular mass:
    61331 Da
    Quaternary structure:
    • Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2 (PubMed:15707893, PubMed:15723037, PubMed:15897460, PubMed:16289203). Interacts (when sumoylated) with GPS2; interaction with GPS2 onto hepatic acute phase protein promoters prevents N-Cor corepressor complex dissociation (PubMed:20159957).
    Miscellaneous:
    • [Isoform 3]: Does not induce CYP7A promoter activity.

    Three dimensional structures from OCA and Proteopedia for NR5A2 Gene

    Alternative splice isoforms for NR5A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR5A2 Gene

Post-translational modifications for NR5A2 Gene

  • Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NR5A2 Gene

Domains & Families for NR5A2 Gene

Gene Families for NR5A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NR5A2 Gene

Blocks:
  • Steroid hormone receptor signature
  • Vitamin D receptor signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NR5A2 Gene

GenScript: Design optimal peptide antigens:
  • Nuclear receptor subfamily 5 group A member 2 (B3GPJ3_HUMAN)
  • cDNA, FLJ79412, highly similar to Orphan nuclear receptor NR5A2 (B4E2P3_HUMAN)
  • Nuclear receptor subfamily 5, group A (B6ZGU9_HUMAN)
  • Liver nuclear receptor homolog-1 variant 2 (F1D8R9_HUMAN)
  • Liver receptor homolog 1 (NR5A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00482

UniProtKB/Swiss-Prot:

NR5A2_HUMAN :
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
Family:
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
genes like me logo Genes that share domains with NR5A2: view

Function for NR5A2 Gene

Molecular function for NR5A2 Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor that acts as a key metabolic sensor by regulating the expression of genes involved in bile acid synthesis, cholesterol homeostasis and triglyceride synthesis. Together with the oxysterol receptors NR1H3/LXR-alpha and NR1H2/LXR-beta, acts as an essential transcriptional regulator of lipid metabolism. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development. Activates the transcription of CYP2C38 (By similarity).
GENATLAS Biochemistry:
nuclear receptor subfamily 5,group A,member 2,orphan nuclear receptor,expressed in liver,yolk sac,intestine,pancreas,activating the alpha 1 fetoprotein gene in early differentiating hepatocytes

Phenotypes From GWAS Catalog for NR5A2 Gene

Gene Ontology (GO) - Molecular Function for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,TAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
genes like me logo Genes that share ontologies with NR5A2: view
genes like me logo Genes that share phenotypes with NR5A2: view

Animal Models for NR5A2 Gene

MGI Knock Outs for NR5A2:

Animal Model Products

  • Taconic Biosciences Mouse Models for NR5A2

CRISPR Products

Targeted motifs for NR5A2 Gene
HOMER Transcription Factor Regulatory Elements motif NR5A2
  • Consensus sequence: TTCAAGGTCA Submotif: canonical Cell Type: mES GEO ID: GSE19019
  • Consensus sequence: BTCAAGGTCA Submotif: canonical Cell Type: Pancreas GEO ID: GSE34295

Clone Products

  • Addgene plasmids for NR5A2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NR5A2 Gene

Localization for NR5A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR5A2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR5A2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IEA 15143342
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15205472
GO:0090575 RNA polymerase II transcription factor complex ISS --
genes like me logo Genes that share ontologies with NR5A2: view

Pathways & Interactions for NR5A2 Gene

genes like me logo Genes that share pathways with NR5A2: view

Pathways by source for NR5A2 Gene

1 KEGG pathway for NR5A2 Gene
1 Qiagen pathway for NR5A2 Gene
  • Oct4 in Mammalian ESC Pluripotency

SIGNOR curated interactions for NR5A2 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated TAS 16289203
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008206 bile acid metabolic process IEA --
GO:0009755 hormone-mediated signaling pathway IBA 21873635
GO:0009792 embryo development ending in birth or egg hatching TAS 16289203
genes like me logo Genes that share ontologies with NR5A2: view

Drugs & Compounds for NR5A2 Gene

(8) Drugs for NR5A2 Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
DLPC Pharma LRH-1 agonist ligand 0

(9) Additional Compounds for NR5A2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for NR5A2 Gene

Compound Action Cas Number
DLPC LRH-1 agonist ligand 18194-25-7
genes like me logo Genes that share compounds with NR5A2: view

Drug Products

Transcripts for NR5A2 Gene

mRNA/cDNA for NR5A2 Gene

3 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for NR5A2

Alternative Splicing Database (ASD) splice patterns (SP) for NR5A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - - -
SP3:
SP4: -

Relevant External Links for NR5A2 Gene

GeneLoc Exon Structure for
NR5A2

Expression for NR5A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NR5A2 Gene

mRNA differential expression in normal tissues according to GTEx for NR5A2 Gene

This gene is overexpressed in Pancreas (x19.1) and Liver (x8.5).

Protein differential expression in normal tissues from HIPED for NR5A2 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NR5A2 Gene



Protein tissue co-expression partners for NR5A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NR5A2

SOURCE GeneReport for Unigene cluster for NR5A2 Gene:

Hs.33446

mRNA Expression by UniProt/SwissProt for NR5A2 Gene:

O00482-NR5A2_HUMAN
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.

Evidence on tissue expression from TISSUES for NR5A2 Gene

  • Liver(4.6)
  • Intestine(2.5)
  • Pancreas(2.5)
  • Nervous system(2.3)
  • Adrenal gland(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with NR5A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for NR5A2 Gene

Orthologs for NR5A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR5A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NR5A2 31 30
  • 99.94 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR5A2 31
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR5A2 31
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR5A2 31 30
  • 92.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NR5A2 31 30
  • 88.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a2 17 31 30
  • 86.83 (n)
rat
(Rattus norvegicus)
Mammalia Nr5a2 30
  • 86.52 (n)
chicken
(Gallus gallus)
Aves NR5A2 31 30
  • 86.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR5A2 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a2 30
  • 78.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12129 30
zebrafish
(Danio rerio)
Actinopterygii nr5a2 31 30 30
  • 74.87 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11635 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005661 30
  • 56.34 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hr39 32
  • 51 (a)
ftz-f1 31 32
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nhr-25 32
  • 74 (a)
nhr-236 31
  • 25 (a)
ManyToMany
nhr-91 31
  • 24 (a)
ManyToMany
nhr-111 31
  • 24 (a)
ManyToMany
nhr-14 31
  • 23 (a)
ManyToMany
nhr-239 31
  • 22 (a)
ManyToMany
nhr-49 31
  • 21 (a)
ManyToMany
nhr-3 31
  • 21 (a)
ManyToMany
nhr-38 31
  • 21 (a)
ManyToMany
nhr-101 31
  • 20 (a)
ManyToMany
nhr-10 31
  • 20 (a)
ManyToMany
nhr-1 31
  • 20 (a)
ManyToMany
nhr-118 31
  • 20 (a)
ManyToMany
nhr-17 31
  • 20 (a)
ManyToMany
nhr-114 31
  • 19 (a)
ManyToMany
fax-1 31
  • 19 (a)
ManyToMany
nhr-68 31
  • 19 (a)
ManyToMany
nhr-138 31
  • 19 (a)
ManyToMany
nhr-32 31
  • 19 (a)
ManyToMany
nhr-97 31
  • 19 (a)
ManyToMany
nhr-100 31
  • 18 (a)
ManyToMany
nhr-61 31
  • 18 (a)
ManyToMany
nhr-31 31
  • 18 (a)
ManyToMany
nhr-67 31
  • 18 (a)
ManyToMany
nhr-258 31
  • 17 (a)
ManyToMany
nhr-4 31
  • 16 (a)
ManyToMany
nhr-40 31
  • 16 (a)
ManyToMany
nhr-21 31
  • 16 (a)
ManyToMany
nhr-120 31
  • 16 (a)
ManyToMany
nhr-34 31
  • 16 (a)
ManyToMany
nhr-47 31
  • 16 (a)
ManyToMany
nhr-62 31
  • 15 (a)
ManyToMany
nhr-2 31
  • 15 (a)
ManyToMany
nhr-88 31
  • 15 (a)
ManyToMany
nhr-277 31
  • 14 (a)
ManyToMany
nhr-71 31
  • 14 (a)
ManyToMany
nhr-7 31
  • 14 (a)
ManyToMany
nhr-46 31
  • 13 (a)
ManyToMany
nhr-119 31
  • 12 (a)
ManyToMany
daf-12 31
  • 12 (a)
ManyToMany
nhr-5 31
  • 12 (a)
ManyToMany
nhr-48 31
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for NR5A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR5A2 Gene

ENSEMBL:
Gene Tree for NR5A2 (if available)
TreeFam:
Gene Tree for NR5A2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NR5A2: view image

Paralogs for NR5A2 Gene

Paralogs for NR5A2 Gene

(39) SIMAP similar genes for NR5A2 Gene using alignment to 9 proteins:

  • NR5A2_HUMAN
  • B3GPJ3_HUMAN
  • B4E2P3_HUMAN
  • B6ZGU9_HUMAN
  • E9PQH2_HUMAN
  • F1D8R9_HUMAN
  • H0Y328_HUMAN
  • H0Y7S7_HUMAN
  • Q8WY08_HUMAN
genes like me logo Genes that share paralogs with NR5A2: view

Variants for NR5A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NR5A2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs139624279 Likely Benign: Anophthalmia - microphthalmia 200,048,592(+) C/T MISSENSE_VARIANT
rs76894039 Benign: not specified 200,111,336(+) C/CAA INTRON_VARIANT
rs774872040 Likely Benign: Long QT syndrome 200,048,760(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NR5A2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NR5A2 Gene

Variant ID Type Subtype PubMed ID
dgv135e212 CNV loss 25503493
esv2668931 CNV deletion 23128226
esv3349022 CNV insertion 20981092
esv3578370 CNV loss 25503493
esv3588552 CNV loss 21293372
esv3588554 CNV loss 21293372
nsv1113210 CNV deletion 24896259
nsv1122441 CNV deletion 24896259
nsv1159873 CNV deletion 26073780
nsv161112 CNV deletion 16902084
nsv437265 CNV loss 16327808
nsv506972 OTHER sequence alteration 20534489
nsv947463 CNV duplication 23825009

Variation tolerance for NR5A2 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NR5A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR5A2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR5A2 Gene

Disorders for NR5A2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NR5A2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatitis b
  • chronic hepatitis b
hepatitis
  • hepatitis a
maturity-onset diabetes of the young
  • mody
cholestasis, benign recurrent intrahepatic, 2
  • bric2
- elite association - COSMIC cancer census association via MalaCards
Search NR5A2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NR5A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NR5A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NR5A2 Gene

Publications for NR5A2 Gene

  1. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PMID: 15707893) Krylova IN … Ingraham HA (Cell 2005) 3 4 23 54
  2. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PMID: 15897460) Wang W … West BL (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 23 54
  3. Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene. (PMID: 11595170) Zhang CK … Wang Y (Gene 2001) 3 4 23 54
  4. Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization. (PMID: 9858833) Galarneau L … Bélanger L (Cytogenetics and cell genetics 1998) 2 3 4 54
  5. Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. (PMID: 9786908) Li M … Wang Y (The Journal of biological chemistry 1998) 3 4 23 54

Products for NR5A2 Gene

Sources for NR5A2 Gene