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Aliases for NR5A2 Gene

Aliases for NR5A2 Gene

  • Nuclear Receptor Subfamily 5, Group A, Member 2 2 3
  • FTF 3 4 6
  • 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
  • HB1F 4 6
  • 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
  • Nuclear Receptor Subfamily 5 Group A Member 2 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

External Ids for NR5A2 Gene

Previous Symbols for NR5A2 Gene

  • FTF

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 dental caries. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and phospholipid binding. An important paralog of this gene is NR6A1.

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

Genomic Location for NR5A2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NR5A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR5A2 Gene

Regulatory Elements 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 for NR5A2 Gene

Gene Families for NR5A2 Gene

HGNC:
  • NR :Nuclear hormone receptors
IUPHAR :

UniProtKB/Swiss-Prot:

NR5A2_HUMAN
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.:
    • O00482
Family:
  • Belongs to the nuclear hormone receptor family. NR5 subfamily.:
    • O00482
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0003677 DNA binding IDA 16289203
GO:0003700 sequence-specific DNA binding transcription factor activity IDA 15205472
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity TAS 9786908
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:

miRNA for NR5A2 Gene

miRTarBase miRNAs that target NR5A2
Targeting motifs for NR5A2 Gene
HOMER Transcription Factor Regulatory Elements motif NR5A2
  • Consensus sequence: TTCAAGGTCA Submotif: canonical Cell Type: mES GeoId: GSE19019
  • Consensus sequence: BTCAAGGTCA Submotif: canonical Cell Type: Pancreas GeoId: GSE34295

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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 4

Gene Ontology (GO) - Cellular Components for NR5A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15143342
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 15205472
genes like me logo Genes that share ontologies with NR5A2: view

Pathways for NR5A2 Gene

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

Pathways by source for NR5A2 Gene

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:0009790 embryo development TAS 16289203
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with NR5A2: view

Compounds for NR5A2 Gene

(16) Novoseek inferred chemical compound relationships for NR5A2 Gene

Compound -log(P) Hits PubMed IDs
chenodeoxycholic acid 71.2 2
bile acid 67 2
3beta-hydroxysteroid 61.3 1
cholesterol 53.6 22
steroid 44.8 10
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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Pancreas (19.1) and Liver (8.5).

Integrated Proteomics: protein expression 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 expressions with NR5A2: view

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 36
  • 99.94 (n)
  • 100 (a)
NR5A2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NR5A2 36
  • 88.35 (n)
  • 96.3 (a)
NR5A2 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR5A2 36
  • 92.59 (n)
  • 96.73 (a)
NR5A2 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nr5a2 36
  • 86.83 (n)
  • 90.17 (a)
Nr5a2 16
Nr5a2 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR5A2 37
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NR5A2 37
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr5a2 36
  • 86.52 (n)
  • 90.17 (a)
chicken
(Gallus gallus)
Aves NR5A2 36
  • 86.76 (n)
  • 97.21 (a)
NR5A2 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR5A2 37
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12129 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nr5a2 36
  • 78.31 (n)
  • 92.81 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11635 36
zebrafish
(Danio rerio)
Actinopterygii nr5a2 36
  • 74.87 (n)
  • 86 (a)
nr5a2 37
  • 85 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005661 36
  • 56.34 (n)
  • 53.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta ftz-f1 37
  • 22 (a)
OneToMany
ftz-f1 38
  • 80 (a)
Hr39 38
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-12 37
  • 12 (a)
ManyToMany
fax-1 37
  • 19 (a)
ManyToMany
nhr-1 37
  • 20 (a)
ManyToMany
nhr-10 37
  • 20 (a)
ManyToMany
nhr-100 37
  • 18 (a)
ManyToMany
nhr-101 37
  • 20 (a)
ManyToMany
nhr-111 37
  • 24 (a)
ManyToMany
nhr-114 37
  • 19 (a)
ManyToMany
nhr-118 37
  • 20 (a)
ManyToMany
nhr-119 37
  • 12 (a)
ManyToMany
nhr-120 37
  • 16 (a)
ManyToMany
nhr-138 37
  • 19 (a)
ManyToMany
nhr-14 37
  • 23 (a)
ManyToMany
nhr-17 37
  • 20 (a)
ManyToMany
nhr-2 37
  • 15 (a)
ManyToMany
nhr-21 37
  • 16 (a)
ManyToMany
nhr-236 37
  • 25 (a)
ManyToMany
nhr-239 37
  • 22 (a)
ManyToMany
nhr-258 37
  • 17 (a)
ManyToMany
nhr-277 37
  • 14 (a)
ManyToMany
nhr-3 37
  • 21 (a)
ManyToMany
nhr-31 37
  • 18 (a)
ManyToMany
nhr-32 37
  • 19 (a)
ManyToMany
nhr-34 37
  • 16 (a)
ManyToMany
nhr-38 37
  • 21 (a)
ManyToMany
nhr-4 37
  • 16 (a)
ManyToMany
nhr-40 37
  • 16 (a)
ManyToMany
nhr-46 37
  • 13 (a)
ManyToMany
nhr-47 37
  • 16 (a)
ManyToMany
nhr-48 37
  • 10 (a)
ManyToMany
nhr-49 37
  • 21 (a)
ManyToMany
nhr-5 37
  • 12 (a)
ManyToMany
nhr-61 37
  • 18 (a)
ManyToMany
nhr-62 37
  • 15 (a)
ManyToMany
nhr-67 37
  • 18 (a)
ManyToMany
nhr-68 37
  • 19 (a)
ManyToMany
nhr-7 37
  • 14 (a)
ManyToMany
nhr-71 37
  • 14 (a)
ManyToMany
nhr-88 37
  • 15 (a)
ManyToMany
nhr-91 37
  • 24 (a)
ManyToMany
nhr-97 37
  • 19 (a)
ManyToMany
nhr-25 38
  • 74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
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

Relevant External Links for NR5A2 Gene

HapMap Linkage Disequilibrium report
NR5A2

Disorders for NR5A2 Gene

(2) MalaCards Diseases for NR5A2 Gene

Search for NR5A2 Gene in MalaCards »

(2) University of Copenhagen DISEASES for NR5A2 Gene

(9) Novoseek inferred disease relationships for NR5A2 Gene

Disease -log(P) Hits PubMed IDs
granulosa cell tumor 43.7 2
hepatitis b 34.7 6
dental caries 33.5 1
pancreas exocrine 31.9 2
carcinoma ductal 10.5 3

Relevant External Links for NR5A2

Genetic Association Database (GAD)
NR5A2
Human Genome Epidemiology (HuGE) Navigator
NR5A2
genes like me logo Genes that share disorders with NR5A2: view

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

Publications for NR5A2 Gene

  1. 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. (J. Biol. Chem. 1998) 3 4 23
  2. Characterization of the genomic structure and tissue-specific promoter of the human nuclear receptor NR5A2 (hB1F) gene. (PMID: 11595170) Zhang C.K. … Wang Y. (Gene 2001) 3 4 23
  3. Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1. (PMID: 15707893) Krylova I.N. … Ingraham H.A. (Cell 2005) 3 4 23
  4. The crystal structures of human steroidogenic factor-1 and liver receptor homologue-1. (PMID: 15897460) Wang W. … West B.L. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 4 23
  5. 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

Products for NR5A2 Gene

Sources for NR5A2 Gene

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