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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FOXA2 Gene

protein-coding   GIFtS: 63
GCID: GC20M022561

Forkhead Box A2

(Previous names: hepatocyte nuclear factor 3, beta)
(Previous symbol: HNF3B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Forkhead Box A21 2     HNF-3B2 3
HNF3B1 2 3 5     TCF-3B2 3
Hepatocyte Nuclear Factor 3, Beta1 2     TCF3B2 3
Forkhead Box Protein A22 3     Hepatic Nuclear Factor-3-Beta2
Transcription Factor 3B2 3     Hepatocyte Nuclear Factor 3-Beta2
HNF-3-beta2 3     

External Ids:    HGNC: 50221   Entrez Gene: 31702   Ensembl: ENSG000001257987   OMIM: 6002885   UniProtKB: Q9Y2613   

Export aliases for FOXA2 gene to outside databases

Previous GC identifers: GC20M022550 GC20M022556 GC20M022509 GC20M022523


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Regulation of beta-cell development and Hepatic ABC Transporters. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is FOXF1.

UniProtKB/Swiss-Prot: FOXA2_HUMAN, Q9Y261
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 Wiki entry for FOXA2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FOXA2 gene promoter:
         S8   HFH-1   AP-2alpha   ATF   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FOXA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for FOXA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FOXA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11

FOXA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FOXA2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M022561:  view genomic region     (about GC identifiers)

Start:
22,561,642 bp from pter      End:
22,566,101 bp from pter
Size:
4,460 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FOXA2_HUMAN, Q9Y261 (See protein sequence)
Recommended Name: Hepatocyte nuclear factor 3-beta  
Size: 457 amino acids; 48306 Da
Subunit: Binds DNA as a monomer. Binds TLE1 (By similarity). Interacts with FOXA1 and FOXA3. Interacts with PRKDC
Subcellular location: 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
Sequence caution: Sequence=AAH11780.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8WUW4 Q96DF7
Alternative splicing: 2 isoforms:  Q9Y261-1   Q9Y261-2   

Explore the universe of human proteins at neXtProt for FOXA2: NX_Q9Y261

Explore proteomics data for FOXA2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on Thr-156 abolishes binding to target promoters and subsequent transcription activation upon
    insulin stimulation (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y261

  • FOXA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FOXA2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_068556.2  NP_710141.1  

    ENSEMBL proteins: 
     ENSP00000400341   ENSP00000366319   ENSP00000315955  

    Human Recombinant Protein Products for FOXA2: 
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    OriGene Protein Over-expression Lysate for FOXA2
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    Novus Biologicals FOXA2 Proteins
    Novus Biologicals FOXA2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for FOXA2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IBA--
    GO:0005737cytoplasm IEA--
    GO:0044464cell part ----

    FOXA2 for ontologies           About GeneDecksing



    FOXA2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of FOXA2
    R&D Systems Antibodies for FOXA2 (HNF-3 beta/FoxA2)
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    LSBio Antibodies in human, mouse, rat for FOXA2 

    Assay Products for FOXA2: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FOXA2 
    Cloud-Clone Corp. CLIAs for FOXA2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FOX: Forkhead boxes

    5 InterPro protein domains:
     IPR011991 WHTH_DNA-bd_dom
     IPR018533 Forkhead_box_C
     IPR018122 TF_fork_head_CS
     IPR013638 Fork-head_N
     IPR001766 TF_fork_head

    Graphical View of Domain Structure for InterPro Entry Q9Y261

    ProtoNet protein and cluster: Q9Y261

    1 Blocks protein domain: IPB013638 Fork-head N-terminal

    UniProtKB/Swiss-Prot: FOXA2_HUMAN, Q9Y261
    Similarity: Contains 1 fork-head DNA-binding domain


    FOXA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FOXA2_HUMAN, Q9Y261
    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): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA12642491
    GO:0003677DNA binding IDA9931457
    GO:0003690double-stranded DNA binding IBA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA12124776
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity IBA--
         
    FOXA2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for FOXA2:
     Decreased nuclei size in G2M  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

         15/22 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Foxa2) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    FOXA2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Foxa2tm1Jrt for FOXA2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FOXA2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FOXA2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FOXA2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FOXA2 

    miRNA
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    hsa-miR-631 hsa-miR-200a hsa-miR-3661 hsa-miR-1205 hsa-miR-764 hsa-miR-3167 hsa-miR-141 hsa-miR-548a-3p
    SwitchGear 3'UTR luciferase reporter plasmidFOXA2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for FOXA2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FOXA2

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): FOXA2 (NM_021784)
    Sino Biological Human cDNA Clone for FOXA2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FOXA2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FOXA2
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                         Customized lentivirus expression plasmids for stable overexpression of FOXA2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXA2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FOXA2 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Maturity onset diabetes of the young0.56
    2Hepatic ABC Transporters
    MODY (Maturity-Onset Diabetes of Young)0.41
    3PI3K / Akt Signaling
    PI3K / Akt Signaling
    4Hedgehog signaling events mediated by Gli proteins
    Hedgehog signaling events mediated by Gli proteins
    5Heart Development
    Heart Development

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for FOXA2
        Selected targets of C/EBPalpha

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for FOXA2
        MODY (Maturity-Onset Diabetes of Young)

    2 Cell Signaling Technology (CST) Pathways for FOXA2
        PI3K / Akt Signaling
    Glucose / Energy Metabolism

    5/6 BioSystems Pathways for FOXA2 (see all 6)
        Heart Development
    Cardiac Progenitor Differentiation
    Hedgehog signaling events mediated by Gli proteins
    FOXA2 and FOXA3 transcription factor networks
    FOXA1 transcription factor network



    1         Kegg Pathway  (Kegg details for FOXA2):
        Maturity onset diabetes of the young


    FOXA2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FOXA2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/51 Interacting proteins for FOXA2 (Q9Y2612, 3 ENSP000003159554) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EN2P196223, ENSP000002973754I2D: score=2 STRING: ENSP00000297375
    GSCP569153, ENSP000002385584I2D: score=2 STRING: ENSP00000238558
    HOXA5P207193, ENSP000002227264I2D: score=2 STRING: ENSP00000222726
    ONECUT1Q9UBC03, ENSP000003026304I2D: score=2 STRING: ENSP00000302630
    OTX2P322433, ENSP000003438194I2D: score=2 STRING: ENSP00000343819
    About this table

    Gene Ontology (GO): 5/50 biological process terms (GO ID links to tree view) (see all 50):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IBA--
    GO:0000432positive regulation of transcription from RNA polymerase II promoter by glucose ISS--
    GO:0000433negative regulation of transcription from RNA polymerase II promoter by glucose ISS--
    GO:0001701in utero embryonic development IBA--
    GO:0001705ectoderm formation IEA--

    FOXA2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FOXA2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FOXA2

    5 Novoseek inferred chemical compound relationships for FOXA2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 24.1 14 11875061 (4), 12509444 (2), 17462994 (1), 17327429 (1) (see all 7)
    glycogen 19.8 2 12509444 (1)
    katp 19.1 2 17462994 (1), 11445544 (1)
    c-peptide 18 1 16186387 (1)
    fatty acid 0 3 18360697 (2), 15949766 (1)

    Search CenterWatch for drugs/clinical trials and news about FOXA2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FOXA2 gene (2 alternative transcripts): 
    NM_021784.4  NM_153675.2  

    Unigene Cluster for FOXA2:

    Forkhead box A2
    Hs.155651  [show with all ESTs]
    Unigene Representative Sequence: NM_021784
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000419308(uc002wsm.3) ENST00000377115(uc002wsn.3) ENST00000319993

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    hsa-miR-631 hsa-miR-200a hsa-miR-3661 hsa-miR-1205 hsa-miR-764 hsa-miR-3167 hsa-miR-141 hsa-miR-548a-3p
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FOXA2

    Additional mRNA sequence: 

    AB028021.1 AK301611.1 BC006545.2 BC011780.2 BC019288.1 

    2 DOTS entries:

    DT.100743798  DT.423625 

    24/78 AceView cDNA sequences (see all 78):

    AA469087 BE793761 BE792651 NM_153675 BM127545 AA133553 AA932551 BM141833 
    AA515421 AW246544 NM_021784 CA841864 CA440895 AI761866 AA594483 BE790926 
    BI160078 AI342818 BG326061 BE614744 AI302734 AI693985 BE327656 AI703350 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FOXA2 expression in normal human tissues (normalized intensities)      FOXA2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTTTAAC
    FOXA2 Expression
    About this image


    FOXA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 19 entries
             Alpha Progenitor Cells Ventral Pancreatic Bud
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Lung (Respiratory System)    fully expand to see all 14 entries
             Mucus-producing Cells Trachea
             Stem Bronchi
             Early proximal lung progenitors ( Directed differentiation of human embryonic stem...
             lung ; pneumocytes   
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
             Medulla Oblongata
             N2/LSB induced-cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             ectoderm/neural ectoderm/future brain   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 13 entries
             Hepatic Endoderm Cells Ventral Foregut Endoderm
             Foregut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 12 entries
             Anterior Primitive Streak Cells Anterior Primitive Streak
             Notochord
             Mesendoderm embryoid bodies ( Mouse embryonic stem cell differentiation into mesoderm,...

    See FOXA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FOXA2

    SOURCE GeneReport for Unigene cluster: Hs.155651
        SABiosciences Expression via Pathway-Focused PCR Arrays including FOXA2 (see all 6): 
              Stem Cell Transcription Factors in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Transcription Factors in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FOXA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FOXA2 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Foxa21 , 5 forkhead box A21, 5 90.44(n)1
    97.59(a)1
      2 (73.38 cM)5
    153761  NM_010446.21  NP_034576.21 
     1480428775 
    chicken
    (Gallus gallus)
    Aves FOXA21 forkhead box A2 81.83(n)
    81.44(a)
      395539  NM_204770.1  NP_990101.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AY260736.12   -- 80.13(n)    AY260736.1 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_130949.12   -- 80.46(n)   30126  NM_130949.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fkh1 fork head 56.7(n)
    48.49(a)
      43383  NM_001170291.1  NP_001163762.1 
    worm
    (Caenorhabditis elegans)
    Secernentea pha-46
    Defective pharyngeal development protein 4
    22(a)
    1 → many
    V(20752936-20760303)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FOXA2 gene
    FOXF12  FOXF22  FOXD4L12  FOXC22  FOXI22  FOXB12  FOXE32  FOXC12  
    FOXD4L22  FOXD4L32  FOXA32  FOXD4L52  FOXD12  FOXD32  FOXD4L42  FOXL12  
    FOXA12  FOXE12  FOXB22  FOXI12  FOXD4L62  FOXS12  FOXD22  FOXL22  
    FOXD42  
    9 SIMAP similar genes for FOXA2 using alignment to 2 protein entries:     FOXA2_HUMAN (see all proteins):
    FOXA1    FOXB1    FOXC1    FOXE1    FOXL2    FOXB2
    FOXS1    FOXA3    FOXE3

    FOXA2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/181 SNPs in FOXA2 are shown (see all 181)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872897591,2
    --22561363(+) TCCTGA/GGATCT 2 -- ds50010--------
    rs60482061,2
    C,F,A,H--22561382(+) CATTGT/CGTGTA 2 -- ds500122Minor allele frequency- C:0.22NS EA NA WA CSA 2417
    rs12039081,2
    C,F--22561397(+) TAACCC/ACCAAA 2 -- ds50014Minor allele frequency- A:0.09NS CSA WA 193
    rs12039091,2
    C,F,H--22561479(+) TACTGG/TTATCT 2 -- ds500112Minor allele frequency- T:0.03NS EA NA WA 1282
    rs1903763691,2
    --22561492(+) AAATTC/TGAAGT 2 -- ds50010--------
    rs724705611,2
    C,F--22561588(-) GATTCT/CGCAAT 2 -- ds50013Minor allele frequency- C:0.02NS WA 210
    rs61137241,2
    C--22561603(+) GAGCAG/AGTCCC 2 -- ds50012Minor allele frequency- A:0.00NA 4
    rs1139802001,2
    C--22561605(+) GCAGGA/TCCCTG 2 -- ds50011Minor allele frequency- T:0.00CSA 1
    rs1834875741,2
    --22561677(+) GGGAAA/GACAGC 2 -- ut310--------
    rs724705601,2
    C,F--22561865(-) AAGGGC/TCAGAG 2 -- ut314Minor allele frequency- T:0.04NS WA 214

    HapMap Linkage Disequilibrium report for FOXA2 (22561642 - 22566101 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for FOXA2: --

    Human Gene Mutation Database (HGMD): FOXA2
    SABiosciences Cancer Mutation PCR Assays
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing FOXA2:
    Oncogenes & Tumor Suppressor Genes 384HC
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing FOXA2
    DNA2.0 Custom Variant and Variant Library Synthesis for FOXA2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600288    OMIM disorders: --

    20/25 diseases for FOXA2 (see all 25):    About MalaCards
    meckel's diverticulum    maturity-onset diabetes of the young    alagille syndrome    hyperinsulinemic hypoglycemia
    pharyngitis    fatty liver disease    hypoglycemia    dwarfism
    hepatitis    insulin resistance    liver disease    alopecia
    hepatitis b    hepatitis c    lung cancer    pancreatic cancer
    alcoholism    diabetes mellitus    thyroiditis    pancreatitis


    FOXA2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for FOXA2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 22.9 6 10868949 (1), 11043867 (1), 10868948 (1)
    insulin resistance 0 1 15949766 (1)
    tumors 0 3 18593902 (1), 16001449 (1), 15205324 (1)
    obesity 0 1 15949766 (1)

    Genetic Association Database (GAD): FOXA2
    Human Genome Epidemiology (HuGE) Navigator: FOXA2 (11 documents)

    Export disorders for FOXA2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FOXA2 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with FOXA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Foxa2 (HNF3beta ) controls multiple genes implicated in metabolism-secretion coupling of glucose-induced insulin release. (PubMed id 11875061)1, 3, 9 Wang H....Wollheim C.B. (2002)
    2. Genetic predictors of interindividual variability in hepatic CYP3A4 expression. (PubMed id 19934400)1, 4, 9 Lamba V....Schuetz E.G. (2010)
    3. Beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the hepatocyte nuclear factor-3beta gene (HNF3B) in Japanese patients with maturity-onset diabetes of the young. (PubMed id 10868948)1, 4, 9 Hinokio Y....Bell G.I. (2000)
    4. Insulin regulates the activity of forkhead transcription factor Hnf- 3beta/Foxa-2 by Akt-mediated phosphorylation and nuclear/cytosolic localization. (PubMed id 14500912)1, 2, 9 Wolfrum C.... Stoffel M. (2003)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Genetic variants of FOXA2: risk of type 2 diabetes and effect on metabolic traits in North Indians. (PubMed id 18797817)1, 4 Tabassum R....Bharadwaj D. (2008)
    7. A hepatocyte nuclear factor-3 site in the fibrinogen beta promoter is important for interleukin 6-induced expression, and its activity is influenced by the adjacent -148C/T polymorphism. (PubMed id 15737987)1, 2 Verschuur M.... Vos H.L. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    10. Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3 beta and mutation screening in Japanese subjects with maturity-onset diabetes of the young. (PubMed id 10672453)1, 2 Yamada S.... Takeda J. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3170 HGNC: 5022 AceView: FOXA2 Ensembl:ENSG00000125798 euGenes: HUgn3170
    ECgene: FOXA2 Kegg: 3170 H-InvDB: FOXA2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FOXA2 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FOXA2 gene:
    Search GeneIP for patents involving FOXA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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