• Gene id: 3170

Gene Summary

• Gene Symbol: FOXA2   Gene   UCSC   Ensembl
• Aliases: HNF-3-beta, HNF3B, TCF3B
• Gene name: forkhead box A2
• Alternate names: hepatocyte nuclear factor 3-beta, forkhead box protein A2, hepatic nuclear factor-3-beta, transcription factor 3B,
• Gene location: 20p11.21 (22585489: 22580997)     Exons: 3     NC_000020.11
• Gene summary(Entrez): 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 mem

Protein Summary

• Protein general information: Q9Y261  
  • Name: Hepatocyte nuclear factor 3 beta (HNF 3 beta) (HNF 3B) (Forkhead box protein A2) (Transcription factor 3B) (TCF 3B)
  • Length: 457  
  • Mass: 48306
• Sequence:

  MLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMNGMNTYMSMSAAAMGSGSGNMSAGSMNMSSYVGAGMSP
  SLAGMSPGAGAMAGMGGSAGAAGVAGMGPHLSPSLSPLGGQAAGAMGGLAPYANMNSMSPMYGQAGLSRARDPKT
  YRRSYTHAKPPYSYISLITMAIQQSPNKMLTLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLSFNDCFLKVPRSPD
  KPGKGSFWTLHPDSGNMFENGCYLRRQKRFKCEKQLALKEAAGAAGSGKKAAAGAQASQAQLGEAAGPASETPAG
  TESPHSSASPCQEHKRGGLGELKGTPAAALSPPEPAPSPGQQQQAAAHLLGPPHHPGLPPEAHLKPEHHYAFNHP
  FSINNLMSSEQQHHHSHHHHQPHKMDLKAYEQVMHYPGYGSPMPGSLAMGPVTNKTGLDASPLAADTSYYQGVYS
  RPIMNSS

• Structural information:
  • Interpro: IPR013638  IPR001766  IPR018533  IPR018122  IPR030456   IPR036388  IPR036390  
  • Prosite: PS00657 PS00658 PS50039
  • CDD: cd00059
  • PDB: 5X07
  • PDBsum: 5X07
  • STRING: ENSP00000400341
• Other Databases: GeneCards:  FOXA2  Malacards:  FOXA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008344	adult locomotory behavior	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0001708	cell fate specification	ISS	biological process
GO:0071542	dopaminergic neuron differentiation	ISS	biological process
GO:0071542	dopaminergic neuron differentiation	IGI	biological process
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0070741	response to interleukin-6	TAS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	IC	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0033132	negative regulation of glucokinase activity	ISS	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IMP	biological process
GO:2000971	negative regulation of detection of glucose	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0031018	endocrine pancreas development	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	ISS	biological process
GO:0061987	negative regulation of transcription from RNA polymerase II promoter by glucose	ISS	biological process
GO:0061178	regulation of insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0030193	regulation of blood coagulation	IDA	biological process
GO:0003677	DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:2000543	positive regulation of gastrulation	ISS	biological process
GO:0090009	primitive streak formation	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0040019	positive regulation of embryonic development	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04213	Longevity regulating pathway - multiple species
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:11043867
type 2 diabetes mellitus	PMID:18797817
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray