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Aliases for NR5A2 Gene

Aliases for NR5A2 Gene

  • Nuclear Receptor Subfamily 5 Group A Member 2 2 3 5
  • Nuclear Receptor Subfamily 5, Group A, Member 2 2 3
  • Alpha-1-Fetoprotein Transcription Factor 3 4
  • CYP7A Promoter-Binding Factor 3 4
  • Liver Receptor Homolog-1 2 3
  • Liver Receptor Homolog 1 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
  • Fetoprotein-Alpha 1 (AFP) Transcription Factor 3
  • Liver Nuclear Receptor Homolog-1 Variant 2 3
  • Hepatocytic Transcription Factor HB1F-3 3
  • Hepatocytic Transcription Factor 4
  • Nuclear Receptor NR5A2 3
  • 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

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 testicular leydig cell tumor. Among its related pathways are Regulation of beta-cell development and Oct4 in Mammalian ESC Pluripotency. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is AR.

UniProtKB/Swiss-Prot for NR5A2 Gene

  • 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.

Gene Wiki entry for NR5A2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR5A2 Gene

Genomics for NR5A2 Gene

Regulatory Elements for NR5A2 Gene

Enhancers for NR5A2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NR5A2 on UCSC Golden Path with GeneCards custom track

Promoters for NR5A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR5A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR5A2 Gene

Chromosome:
1
Start:
200,027,602 bp from pter
End:
200,177,424 bp from pter
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.

    Three dimensional structures from OCA and Proteopedia for NR5A2 Gene

    Alternative splice isoforms for NR5A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NR5A2 Gene

Proteomics data for NR5A2 Gene at MOPED

Post-translational modifications for NR5A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR5A2 Gene

No data available for DME Specific Peptides for NR5A2 Gene

Domains & Families for NR5A2 Gene

Gene Families for NR5A2 Gene

Graphical View of Domain Structure for InterPro Entry

O00482

UniProtKB/Swiss-Prot:

NR5A2_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
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

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
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding ISS --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003682 chromatin binding ISS --
GO:0003690 double-stranded DNA binding IEA --
GO:0003707 steroid hormone receptor activity 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
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

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
Jensen Localization Image for NR5A2 Gene COMPARTMENTS Subcellular localization image for NR5A2 gene
Compartment Confidence
nucleus 5
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

SIGNOR curated interactions for NR5A2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0009790 embryo development TAS 16289203
GO:0010467 gene expression TAS --
GO:0030522 intracellular receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with NR5A2: view

Drugs & Compounds for NR5A2 Gene

(7) Drugs for NR5A2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR5A2: view

Transcripts for NR5A2 Gene

Unigene Clusters for NR5A2 Gene

Nuclear receptor subfamily 5, group A, member 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
NR5A2

Expression for NR5A2 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for NR5A2 Gene



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.
genes like me logo Genes that share expression patterns with NR5A2: view

Protein tissue co-expression partners for NR5A2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia NR5A2 35
  • 88.35 (n)
  • 96.3 (a)
NR5A2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR5A2 35
  • 92.59 (n)
  • 96.73 (a)
NR5A2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a2 35
  • 86.83 (n)
  • 90.17 (a)
Nr5a2 16
Nr5a2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR5A2 35
  • 99.94 (n)
  • 100 (a)
NR5A2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr5a2 35
  • 86.52 (n)
  • 90.17 (a)
oppossum
(Monodelphis domestica)
Mammalia NR5A2 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR5A2 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves NR5A2 35
  • 86.76 (n)
  • 97.21 (a)
NR5A2 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR5A2 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a2 35
  • 78.31 (n)
  • 92.81 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12129 35
zebrafish
(Danio rerio)
Actinopterygii nr5a2 35
  • 74.87 (n)
  • 86 (a)
nr5a2 36
  • 85 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11635 35
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 37
  • 80 (a)
Hr39 37
  • 51 (a)
ftz-f1 36
  • 22 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005661 35
  • 56.34 (n)
  • 53.65 (a)
worm
(Caenorhabditis elegans)
Secernentea nhr-25 37
  • 74 (a)
daf-12 36
  • 12 (a)
ManyToMany
fax-1 36
  • 19 (a)
ManyToMany
nhr-1 36
  • 20 (a)
ManyToMany
nhr-10 36
  • 20 (a)
ManyToMany
nhr-100 36
  • 18 (a)
ManyToMany
nhr-101 36
  • 20 (a)
ManyToMany
nhr-111 36
  • 24 (a)
ManyToMany
nhr-114 36
  • 19 (a)
ManyToMany
nhr-118 36
  • 20 (a)
ManyToMany
nhr-119 36
  • 12 (a)
ManyToMany
nhr-120 36
  • 16 (a)
ManyToMany
nhr-138 36
  • 19 (a)
ManyToMany
nhr-14 36
  • 23 (a)
ManyToMany
nhr-17 36
  • 20 (a)
ManyToMany
nhr-2 36
  • 15 (a)
ManyToMany
nhr-21 36
  • 16 (a)
ManyToMany
nhr-236 36
  • 25 (a)
ManyToMany
nhr-239 36
  • 22 (a)
ManyToMany
nhr-258 36
  • 17 (a)
ManyToMany
nhr-277 36
  • 14 (a)
ManyToMany
nhr-3 36
  • 21 (a)
ManyToMany
nhr-31 36
  • 18 (a)
ManyToMany
nhr-32 36
  • 19 (a)
ManyToMany
nhr-34 36
  • 16 (a)
ManyToMany
nhr-38 36
  • 21 (a)
ManyToMany
nhr-4 36
  • 16 (a)
ManyToMany
nhr-40 36
  • 16 (a)
ManyToMany
nhr-46 36
  • 13 (a)
ManyToMany
nhr-47 36
  • 16 (a)
ManyToMany
nhr-48 36
  • 10 (a)
ManyToMany
nhr-49 36
  • 21 (a)
ManyToMany
nhr-5 36
  • 12 (a)
ManyToMany
nhr-61 36
  • 18 (a)
ManyToMany
nhr-62 36
  • 15 (a)
ManyToMany
nhr-67 36
  • 18 (a)
ManyToMany
nhr-68 36
  • 19 (a)
ManyToMany
nhr-7 36
  • 14 (a)
ManyToMany
nhr-71 36
  • 14 (a)
ManyToMany
nhr-88 36
  • 15 (a)
ManyToMany
nhr-91 36
  • 24 (a)
ManyToMany
nhr-97 36
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for NR5A2:
  • 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)

Paralogs for NR5A2 Gene

Paralogs for NR5A2 Gene

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

Variants for NR5A2 Gene

Sequence variations from dbSNP and Humsavar for NR5A2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs871446 -- 200,149,311(-) ATTGC(A/G)ACCCA intron-variant
rs1056426 -- 200,177,275(+) GAGTG(C/T)GAAGT utr-variant-3-prime
rs1060060 -- 200,174,153(-) TCCCC(A/G)TTCAG reference, synonymous-codon
rs1060061 -- 200,174,314(+) CCAAG(C/T)AACGC utr-variant-3-prime
rs1060062 -- 200,174,587(+) ATCTT(A/G)TTAAT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv873093 CNV Gain 21882294
nsv161112 CNV Loss 16902084
esv2668931 CNV Deletion 23128226
nsv437265 CNV Loss 16327808
esv268970 CNV Insertion 20981092
nsv506972 CNV Insertion 20534489

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)

Relevant External Links for NR5A2 Gene

HapMap Linkage Disequilibrium report
NR5A2

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

Disorders for NR5A2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hepatitis b
  • chronic hepatitis b
testicular leydig cell tumor
  • testicular leydig cell neoplasm
reproductive organ benign neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search NR5A2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NR5A2

Genetic Association Database (GAD)
NR5A2
Human Genome Epidemiology (HuGE) Navigator
NR5A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR5A2
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. Assignment of the fetoprotein transcription factor gene (FTF) to human chromosome band 1q32.11 by in situ hybridization. (PMID: 9858833) Galarneau L. … Belanger L. (Cytogenet. Cell Genet. 1998) 2 3 4 67
  2. PPAR-gamma coactivator-1alpha regulates progesterone production in ovarian granulosa cells with SF-1 and LRH-1. (PMID: 20133449) Yazawa T. … Miyamoto K. (Mol. Endocrinol. 2010) 3 23
  3. The nuclear receptors SF1 and LRH1 are expressed in endometrial cancer cells and regulate steroidogenic gene transcription by cooperating with AP-1 factors. (PMID: 19022561) DubAc C. … Tremblay J.J. (Cancer Lett. 2009) 3 23
  4. Liver receptor homolog-1 regulates the transcription of steroidogenic enzymes and induces the differentiation of mesenchymal stem cells into steroidogenic cells. (PMID: 19359379) Yazawa T. … Miyamoto K. (Endocrinology 2009) 3 23
  5. Molecular dynamics simulation study for LRH-1: interaction with fragments of SHP and function of phospholipid ligand. (PMID: 17910058) Zhang T. … Chen M.B. (Proteins 2008) 3 23

Products for NR5A2 Gene

Sources for NR5A2 Gene

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