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Aliases for FOXA2 Gene

Aliases for FOXA2 Gene

  • Forkhead Box A2 2 3 5
  • Hepatocyte Nuclear Factor 3, Beta 2 3
  • Forkhead Box Protein A2 3 4
  • Transcription Factor 3B 3 4
  • HNF-3-Beta 3 4
  • HNF-3B 3 4
  • TCF-3B 3 4
  • HNF3B 3 4
  • TCF3B 3 4
  • Hepatic Nuclear Factor-3-Beta 3

External Ids for FOXA2 Gene

Previous HGNC Symbols for FOXA2 Gene

  • HNF3B

Previous GeneCards Identifiers for FOXA2 Gene

  • GC20M022550
  • GC20M022556
  • GC20M022509
  • GC20M022561
  • GC20M022523

Summaries for FOXA2 Gene

Entrez Gene Summary for FOXA2 Gene

  • This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for FOXA2 Gene

FOXA2 (Forkhead Box A2) is a Protein Coding gene. Diseases associated with FOXA2 include meckel's diverticulum and maturity-onset diabetes of the young. Among its related pathways are Longevity regulating pathway - multiple species and Regulation of beta-cell development. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is FOXE3.

UniProtKB/Swiss-Prot for FOXA2 Gene

  • Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a pioneer factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3 (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation.

Gene Wiki entry for FOXA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXA2 Gene

Genomics for FOXA2 Gene

Regulatory Elements for FOXA2 Gene

Enhancers for FOXA2 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 FOXA2 on UCSC Golden Path with GeneCards custom track

Promoters for FOXA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FOXA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for FOXA2 Gene

Chromosome:
20
Start:
22,581,004 bp from pter
End:
22,585,463 bp from pter
Size:
4,460 bases
Orientation:
Minus strand

Genomic View for FOXA2 Gene

Genes around FOXA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXA2 Gene

Proteins for FOXA2 Gene

  • Protein details for FOXA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y261-FOXA2_HUMAN
    Recommended name:
    Hepatocyte nuclear factor 3-beta
    Protein Accession:
    Q9Y261
    Secondary Accessions:
    • Q8WUW4
    • Q96DF7

    Protein attributes for FOXA2 Gene

    Size:
    457 amino acids
    Molecular mass:
    48306 Da
    Quaternary structure:
    • Binds DNA as a monomer. Binds TLE1 (By similarity). Interacts with FOXA1 and FOXA3. Interacts with PRKDC.
    SequenceCaution:
    • Sequence=AAH11780.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FOXA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FOXA2 Gene

Proteomics data for FOXA2 Gene at MOPED

Post-translational modifications for FOXA2 Gene

  • Phosphorylation on Thr-156 abolishes binding to target promoters and subsequent transcription activation upon insulin stimulation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXA2 Gene

Domains & Families for FOXA2 Gene

Gene Families for FOXA2 Gene

Suggested Antigen Peptide Sequences for FOXA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y261

UniProtKB/Swiss-Prot:

FOXA2_HUMAN :
  • Contains 1 fork-head DNA-binding domain.
Domain:
  • Contains 1 fork-head DNA-binding domain.
genes like me logo Genes that share domains with FOXA2: view

Function for FOXA2 Gene

Molecular function for FOXA2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that is involved in embryonic development, establishment of tissue-specific gene expression and regulation of gene expression in differentiated tissues. Is thought to act as a pioneer factor opening the compacted chromatin for other proteins through interactions with nucleosomal core histones and thereby replacing linker histones at target enhancer and/or promoter sites. Binds DNA with the consensus sequence 5-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3 (By similarity). In embryonic development is required for notochord formation. Involved in the development of multiple endoderm-derived organ systems such as the liver, pancreas and lungs; FOXA1 and FOXA2 seem to have at least in part redundant roles. Originally described as a transcription activator for a number of liver genes such as AFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interacts with the cis-acting regulatory regions of these genes. Involved in glucose homeostasis; regulates the expression of genes important for glucose sensing in pancreatic beta-cells and glucose homeostasis. Involved in regulation of fat metabolism. Binds to fibrinogen beta promoter and is involved in IL6-induced fibrinogen beta transcriptional activation.

Gene Ontology (GO) - Molecular Function for FOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044212 transcription regulatory region DNA binding IMP 15737987
genes like me logo Genes that share ontologies with FOXA2: view
genes like me logo Genes that share phenotypes with FOXA2: view

Animal Models for FOXA2 Gene

MGI Knock Outs for FOXA2:

Animal Model Products

miRNA for FOXA2 Gene

Targeted motifs for FOXA2 Gene
HOMER Transcription Factor Regulatory Elements motif FOXA2
  • Consensus sequence: CTTGTTTACATA Submotif: canonical Cell Type: Liver GEO ID: GSE25694

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for FOXA2 Gene

Localization for FOXA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXA2 Gene

Nucleus. Cytoplasm. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent manner; in response to insulin signaling via AKT1 is exported from the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FOXA2 Gene COMPARTMENTS Subcellular localization image for FOXA2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for FOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with FOXA2: view

Pathways & Interactions for FOXA2 Gene

genes like me logo Genes that share pathways with FOXA2: view

Interacting Proteins for FOXA2 Gene

Selected Interacting proteins: Q9Y261-FOXA2_HUMAN for FOXA2 Gene via I2D MINT

SIGNOR curated interactions for FOXA2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000432 positive regulation of transcription from RNA polymerase II promoter by glucose ISS --
GO:0001708 cell fate specification ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IDA 12911579
GO:0008344 adult locomotory behavior ISS --
genes like me logo Genes that share ontologies with FOXA2: view

Drugs & Compounds for FOXA2 Gene

(5) Additional Compounds for FOXA2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FOXA2: view

Transcripts for FOXA2 Gene

Unigene Clusters for FOXA2 Gene

Forkhead box A2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FOXA2 Gene

No ASD Table

Relevant External Links for FOXA2 Gene

GeneLoc Exon Structure for
FOXA2
ECgene alternative splicing isoforms for
FOXA2

Expression for FOXA2 Gene

mRNA expression in normal human tissues for FOXA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXA2 Gene

This gene is overexpressed in Liver (x15.7), Pancreas (x12.5), Stomach (x10.2), and Lung (x4.3).

Protein differential expression in normal tissues from HIPED for FOXA2 Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FOXA2 Gene



SOURCE GeneReport for Unigene cluster for FOXA2 Gene Hs.155651

genes like me logo Genes that share expression patterns with FOXA2: view

Protein tissue co-expression partners for FOXA2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for FOXA2 Gene

Orthologs for FOXA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FOXA2 35
  • 94.1 (n)
  • 97.01 (a)
FOXA2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FOXA2 35
  • 94.38 (n)
  • 97.59 (a)
FOXA2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Foxa2 35
  • 90.23 (n)
  • 97.37 (a)
Foxa2 16
Foxa2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Foxa2 35
  • 89.18 (n)
  • 96.05 (a)
oppossum
(Monodelphis domestica)
Mammalia FOXA2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FOXA2 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXA2 35
  • 78.78 (n)
  • 77.31 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia foxa2 35
  • 71.6 (n)
  • 73.15 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
foxa2 35
  • 68.63 (n)
  • 70.34 (a)
foxa2 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fkh 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
ManyToMany
CSA.7421 36
  • 29 (a)
ManyToMany
Species with no ortholog for FOXA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for FOXA2 Gene

ENSEMBL:
Gene Tree for FOXA2 (if available)
TreeFam:
Gene Tree for FOXA2 (if available)

Paralogs for FOXA2 Gene

(9) SIMAP similar genes for FOXA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FOXA2: view

Variants for FOXA2 Gene

Sequence variations from dbSNP and Humsavar for FOXA2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs199796119 - 22,582,241(+) GCGCC(A/G)CAGCC reference, missense
rs1974 -- 22,581,673(+) GGAAC(A/G)GCTGC utr-variant-3-prime
rs1055080 -- 22,581,800(+) CACTT(A/C/G)TCCTC utr-variant-3-prime
rs1800847 -- 22,582,933(-) GCGGC(C/T)GGCGT reference, synonymous-codon
rs1203908 -- 22,580,759(+) TAACC(A/C)CCAAA downstream-variant-500B

Variation tolerance for FOXA2 Gene

Residual Variation Intolerance Score: 22.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FOXA2 Gene

HapMap Linkage Disequilibrium report
FOXA2
Human Gene Mutation Database (HGMD)
FOXA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FOXA2 Gene

Disorders for FOXA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FOXA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
meckel's diverticulum
  • meckel diverticulum
maturity-onset diabetes of the young
  • mason-type diabetes
non-functioning pancreatic endocrine tumor
  • non functioning pancreatic endocrine tumor
alagille syndrome
  • alagille-watson syndrome
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards
Search FOXA2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FOXA2

Genetic Association Database (GAD)
FOXA2
Human Genome Epidemiology (HuGE) Navigator
FOXA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FOXA2
genes like me logo Genes that share disorders with FOXA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXA2 Gene

Publications for FOXA2 Gene

  1. Foxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin release. (PMID: 11875061) Wang H. … Wollheim C.B. (J. Biol. Chem. 2002) 2 3 23 67
  2. Genetic predictors of interindividual variability in hepatic CYP3A4 expression. (PMID: 19934400) Lamba V. … Schuetz E.G. (J. Pharmacol. Exp. Ther. 2010) 3 23
  3. Foxa2 and Nurr1 synergistically yield A9 nigral dopamine neurons exhibiting improved differentiation, function, and cell survival. (PMID: 20049900) Lee H.S. … Lee S.H. (Stem Cells 2010) 3 23
  4. Foxa2 (HNF-3beta) regulates expression of hepatotrophic factor ALR in liver cells. (PMID: 20382118) Dayoub R. … Weiss T.S. (Biochem. Biophys. Res. Commun. 2010) 3 23
  5. Tumour necrosis factor-alpha attenuates insulin action on phosphoenolpyruvate carboxykinase gene expression and gluconeogenesis by altering the cellular localization of Foxa2 in HepG2 cells. (PMID: 19769745) Pandey A.K. … Datta M. (FEBS J. 2009) 3 23

Products for FOXA2 Gene

Sources for FOXA2 Gene

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