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FOXA2 forkhead box A2 [ Homo sapiens (human) ]

Gene ID: 3170, updated on 8-May-2016
Official Symbol
FOXA2provided by HGNC
Official Full Name
forkhead box A2provided by HGNC
Primary source
HGNC:HGNC:5022
See related
Ensembl:ENSG00000125798 HPRD:02618; MIM:600288; Vega:OTTHUMG00000032041
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HNF3B; TCF3B
Summary
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]
Orthologs
Location:
20p11
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (22581004..22585463, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (22561642..22566101, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372564 Neighboring gene long intergenic non-protein coding RNA 261 Neighboring gene long intergenic non-protein coding RNA 1384 Neighboring gene uncharacterized LOC105372565 Neighboring gene uncharacterized LOC105372566

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
NHGRI GWA Catalog
A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.
NHGRI GWA Catalog
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
NHGRI GWA Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC19807

Gene Ontology Provided by GOA

Process Evidence Code Pubs
adult locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
chromatin modification IEA
Inferred from Electronic Annotation
more info
 
dopaminergic neuron differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
dopaminergic neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
endocrine pancreas development IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of detection of glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of glucokinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter by glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell-cell adhesion mediated by cadherin IC
Inferred by Curator
more info
PubMed 
positive regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gastrulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter by glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
primitive streak formation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of blood coagulation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
response to interleukin-6 TAS
Traceable Author Statement
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
hepatocyte nuclear factor 3-beta
Names
HNF-3-beta
HNF-3B
TCF-3B
forkhead box protein A2
hepatic nuclear factor-3-beta
hepatocyte nuclear factor 3, beta
transcription factor 3B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021784.4NP_068556.2  hepatocyte nuclear factor 3-beta isoform 1

    See identical proteins and their annotated locations for NP_068556.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA469087, AB028021, AI268650, BM273279
    Consensus CDS
    CCDS46585.1
    UniProtKB/Swiss-Prot
    Q9Y261
    UniProtKB/TrEMBL
    B0ZTD4
    Related
    ENSP00000400341, OTTHUMP00000030410, ENST00000419308, OTTHUMT00000078290
    Conserved Domains (3) summary
    cd00059
    Location:165242
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam08430
    Location:23164
    Fork_head_N; Forkhead N-terminal region
    pfam09354
    Location:379452
    HNF_C; HNF3 C-terminal domain
  2. NM_153675.2NP_710141.1  hepatocyte nuclear factor 3-beta isoform 2

    See identical proteins and their annotated locations for NP_710141.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a different splice pattern at the 5' end compared to transcript variant 1, resulting in translation initiation from a downstream AUG, and a shorter isoform (2) missing 6 aa from the N-terminus compared to isoform 1.
    Source sequence(s)
    AA469087, AB028021, AI268650, AL121722
    Consensus CDS
    CCDS13147.1
    UniProtKB/Swiss-Prot
    Q9Y261
    Related
    ENSP00000366319, OTTHUMP00000030409, ENST00000377115, OTTHUMT00000078289
    Conserved Domains (3) summary
    cd00059
    Location:159236
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam08430
    Location:17158
    Fork_head_N; Forkhead N-terminal region
    pfam09354
    Location:373446
    HNF_C; HNF3 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    22581004..22585463 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723562.2XP_006723625.1  

    See identical proteins and their annotated locations for XP_006723625.1

    UniProtKB/Swiss-Prot
    Q9Y261
    Conserved Domains (3) summary
    cd00059
    Location:159236
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam08430
    Location:17158
    Fork_head_N; Forkhead N-terminal region
    pfam09354
    Location:373446
    HNF_C; HNF3 C-terminal domain
  2. XM_011529231.1XP_011527533.1  

    Conserved Domains (3) summary
    cd00059
    Location:129206
    FH; Forkhead (FH), also known as a "winged helix". FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as ...
    pfam08430
    Location:1128
    Fork_head_N; Forkhead N-terminal region
    pfam09354
    Location:343416
    HNF_C; HNF3 C-terminal domain

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    22562253..22566723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)