FOXA2

Protein identityUniProt · HPA

UniProt accession

Q9Y261

Gene

FOXA2

Ensembl

ENSG00000125798

Chromosome

20

Canonical length

457 aa

Protein class

Cancer-related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm,Cell Junctions

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

457 residues, UniProt reviewed canonical sequence.

>Q9Y261|FOXA2
     1  MLGAVKMEGH EPSDWSSYYA EPEGYSSVSN MNAGLGMNGM NTYMSMSAAA MGSGSGNMSA
    61  GSMNMSSYVG AGMSPSLAGM SPGAGAMAGM GGSAGAAGVA GMGPHLSPSL SPLGGQAAGA
   121  MGGLAPYANM NSMSPMYGQA GLSRARDPKT YRRSYTHAKP PYSYISLITM AIQQSPNKML
   181  TLSEIYQWIM DLFPFYRQNQ QRWQNSIRHS LSFNDCFLKV PRSPDKPGKG SFWTLHPDSG
   241  NMFENGCYLR RQKRFKCEKQ LALKEAAGAA GSGKKAAAGA QASQAQLGEA AGPASETPAG
   301  TESPHSSASP CQEHKRGGLG ELKGTPAAAL SPPEPAPSPG QQQQAAAHLL GPPHHPGLPP
   361  EAHLKPEHHY AFNHPFSINN LMSSEQQHHH SHHHHQPHKM DLKAYEQVMH YPGYGSPMPG
   421  SLAMGPVTNK TGLDASPLAA DTSYYQGVYS RPIMNSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FOXA2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.63

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FOXA2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 179 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital syndromic hypopituitarism
• Non-acquired combined pituitary hormone deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.48

gnomAD pLI

0.74

gnomAD missense Z

0.38

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult locomotory behavior
• anatomical structure morphogenesis
• cell differentiation
• cell fate specification
• chromatin organization
• dopaminergic neuron differentiation
• endocrine pancreas development
• negative regulation of epithelial to mesenchymal transition
• negative regulation of transcription by RNA polymerase II
• positive regulation of cell-cell adhesion mediated by cadherin
• positive regulation of DNA-templated transcription
• positive regulation of embryonic development
• positive regulation of gastrulation
• positive regulation of transcription by RNA polymerase II
• primitive streak formation
• regulation of blood coagulation
• regulation of insulin secretion involved in cellular response to glucose stimulus
• regulation of transcription by RNA polymerase II
• response to interleukin-6

Molecular functions

• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• nucleic acid binding
• protein domain specific binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II-specific DNA-binding transcription factor binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding
• transcription corepressor activity

Cellular components

• cell junction
• chromatin
• cytoplasm
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Fork head domain
• Fork-head N-terminal
• Fork head domain conserved site1
• Forkhead box protein, C-terminal
• Fork head domain conserved site 2
• Winged helix-like DNA-binding domain superfamily
• Winged helix DNA-binding domain superfamily
• Forkhead box domain-containing protein
• Forkhead domain
• Forkhead N-terminal region
• HNF3 C-terminal domain

KeywordsUniProt

• Activator
• Chromatin regulator
• Cytoplasm
• Developmental protein
• DNA-binding
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of FOXA2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• AKT1
• FOXA1
• FOXA3
• PRKDC
• TET1