Human Gene FOXA2 (ENST00000419308.7_12) from GENCODE V47lift37
  Description: forkhead box A2, transcript variant 1 (from RefSeq NM_021784.5)
Gencode Transcript: ENST00000419308.7_12
Gencode Gene: ENSG00000125798.15_14
Transcript (Including UTRs)
   Position: hg19 chr20:22,561,636-22,565,210 Size: 3,575 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr20:22,562,488-22,564,916 Size: 2,429 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:22,561,636-22,565,210)mRNA (may differ from genome)Protein (463 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FOXA2_HUMAN
DESCRIPTION: RecName: Full=Hepatocyte nuclear factor 3-beta; Short=HNF-3-beta; Short=HNF-3B; AltName: Full=Forkhead box protein A2; AltName: Full=Transcription factor 3B; Short=TCF-3B;
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.
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.
PTM: Phosphorylation on Thr-156 abolishes binding to target promoters and subsequent transcription activation upon insulin stimulation (By similarity).
SIMILARITY: Contains 1 fork-head DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAH11780.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FOXA2
Diseases sorted by gene-association score: meckel's diverticulum (22), maturity-onset diabetes of the young (11), disuse amblyopia (9), non-functioning pancreatic endocrine tumor (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.49 RPKM in Stomach
Total median expression: 55.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -132.60294-0.451 Picture PostScript Text
3' UTR -207.40852-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013638 - Fork-head_N
IPR018533 - Forkhead_box_C
IPR001766 - TF_fork_head
IPR018122 - TF_fork_head_CS
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00250 - Forkhead domain
PF08430 - Forkhead N-terminal region
PF09354 - HNF3 C-terminal domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9Y261
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0008134 transcription factor binding
GO:0019904 protein domain specific binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0000432 positive regulation of transcription from RNA polymerase II promoter by glucose
GO:0001708 cell fate specification
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0008344 adult locomotory behavior
GO:0009653 anatomical structure morphogenesis
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0030193 regulation of blood coagulation
GO:0031018 endocrine pancreas development
GO:0033132 negative regulation of glucokinase activity
GO:0040019 positive regulation of embryonic development
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0070741 response to interleukin-6
GO:0071542 dopaminergic neuron differentiation
GO:0090009 primitive streak formation
GO:2000049 positive regulation of cell-cell adhesion mediated by cadherin
GO:2000543 positive regulation of gastrulation
GO:2000971 negative regulation of detection of glucose

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  LQ270675 - Sequence 3 from Patent WO2016071350.
LQ270679 - Sequence 7 from Patent WO2016071350.
LF213858 - JP 2014500723-A/21361: Polycomb-Associated Non-Coding RNAs.
HI638973 - Sequence 1 from Patent WO2010118832.
JD437827 - Sequence 418851 from Patent EP1572962.
BC006545 - Homo sapiens forkhead box A2, mRNA (cDNA clone IMAGE:2821244), partial cds.
BC019288 - Homo sapiens, hepatocyte nuclear factor 3, beta, clone IMAGE:2821244, mRNA, partial cds.
BC011780 - Homo sapiens forkhead box A2, mRNA (cDNA clone MGC:19807 IMAGE:3940139), complete cds.
AB028021 - Homo sapiens HNF-3beta mRNA for hepatocyte nuclear factor-3 beta, complete cds.
JD500739 - Sequence 481763 from Patent EP1572962.
JD400291 - Sequence 381315 from Patent EP1572962.
JD396494 - Sequence 377518 from Patent EP1572962.
JD435919 - Sequence 416943 from Patent EP1572962.
AK301611 - Homo sapiens cDNA FLJ51352 complete cds, highly similar to Hepatocyte nuclear factor 3-beta.
DQ892883 - Synthetic construct clone IMAGE:100005513; FLH190632.01X; RZPDo839C0576D forkhead box A2 (FOXA2) gene, encodes complete protein.
DQ896132 - Synthetic construct Homo sapiens clone IMAGE:100010592; FLH190628.01L; RZPDo839C0566D forkhead box A2 (FOXA2) gene, encodes complete protein.
AB464525 - Synthetic construct DNA, clone: pF1KB7038, Homo sapiens FOXA2 gene for forkhead box A2, without stop codon, in Flexi system.
LF205934 - JP 2014500723-A/13437: Polycomb-Associated Non-Coding RNAs.
JD024985 - Sequence 6009 from Patent EP1572962.
JD029407 - Sequence 10431 from Patent EP1572962.
JD029406 - Sequence 10430 from Patent EP1572962.
JD023545 - Sequence 4569 from Patent EP1572962.
HI638980 - Sequence 8 from Patent WO2010118832.
HI638982 - Sequence 10 from Patent WO2010118832.
HI638983 - Sequence 11 from Patent WO2010118832.
LF211855 - JP 2014500723-A/19358: Polycomb-Associated Non-Coding RNAs.
LF212933 - JP 2014500723-A/20436: Polycomb-Associated Non-Coding RNAs.
HI638981 - Sequence 9 from Patent WO2010118832.
JD461747 - Sequence 442771 from Patent EP1572962.
JD175264 - Sequence 156288 from Patent EP1572962.
JD384047 - Sequence 365071 from Patent EP1572962.
JD496628 - Sequence 477652 from Patent EP1572962.
JD066072 - Sequence 47096 from Patent EP1572962.
JD457579 - Sequence 438603 from Patent EP1572962.
JD270548 - Sequence 251572 from Patent EP1572962.
JD399503 - Sequence 380527 from Patent EP1572962.
LQ932412 - Sequence 3 from Patent WO2014187881.
LQ932416 - Sequence 7 from Patent WO2014187881.
MA449435 - JP 2018138019-A/21361: Polycomb-Associated Non-Coding RNAs.
MA441511 - JP 2018138019-A/13437: Polycomb-Associated Non-Coding RNAs.
MA447432 - JP 2018138019-A/19358: Polycomb-Associated Non-Coding RNAs.
MA448510 - JP 2018138019-A/20436: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000419308.1, ENST00000419308.2, ENST00000419308.3, ENST00000419308.4, ENST00000419308.5, ENST00000419308.6, FOXA2_HUMAN, HNF3B, NM_021784, Q8WUW4, Q96DF7, Q9Y261, TCF3B, uc319owa.1, uc319owa.2
UCSC ID: ENST00000419308.7_12
RefSeq Accession: NM_021784.5
Protein: Q9Y261 (aka FOXA2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.