FOXA2 (forkhead box A2)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3170
Gene name Forkhead box A2
Gene symbol FOXA2
Synonyms (NCBI Gene)
HNF-3-betaHNF3BTCF3B
Chromosome 20
Chromosome location 20p11.21
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 mem
miRNA miRNA information provided by mirtarbase database.
20
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017120 hsa-miR-335-5p Microarray 18185580
MIRT017120 hsa-miR-335-5p Luciferase reporter assayqRT-PCRWestern blot 24449834
MIRT017120 hsa-miR-335-5p Luciferase reporter assayqRT-PCRWestern blot 24449834
MIRT440616 hsa-miR-1185-2-3p HITS-CLIP 24374217
MIRT440617 hsa-miR-1185-1-3p HITS-CLIP 24374217
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
GLI2 Unknown 19360354
SMAD3 Unknown 21625455
USF1 Activation 22460558
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS 12642491
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding IMP 15737987
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600288 5022 ENSG00000125798
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y261
Protein name Hepatocyte nuclear factor 3-beta (HNF-3-beta) (HNF-3B) (Forkhead box protein A2) (Transcription factor 3B) (TCF-3B)
Protein 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
PDB 5X07 , 7YZE , 7YZF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08430 Forkhead_N 16 → 158 Forkhead N-terminal region Family
PF00250 Forkhead 158 → 244 Forkhead domain Domain
PF09354 HNF_C 373 → 446 HNF3 C-terminal domain Domain
Sequence 
MLGAVKMEGHEPSDWSSYYAEPEGYSSVSNMNAGLGMNGMNTYMSMSAAAMGSGSGNMSA
GSMNMSSYVGAGMSPSLAGMSPGAGAMAGMGGSAGAAGVAGMGPHLSPSLSPLGGQAAGA
MGGLAPYANMNSMSPMYGQAGLSRARDPKTYRRSYTHAKPPYSYISLITMAIQQSPNKML
TLSEIYQWIMDLFPFYRQNQQRWQNSIRHSLSFNDCFLKVPRSPDKPGKGSFWTLHPDSG
NMFENGCYLRRQKRFKCEKQLALKEAAGAAGSGKKAAAGAQASQAQLGEAAGPASETPAG
TESPHSSASPCQEHKRGGLGELKGTPAAALSPPEPAPSPGQQQQAAAHLLGPPHHPGLPP
EAHLKPEHHYAFNHPFSINNLMSSEQQHHHSHHHHQPHKMDLKAYEQVMHYPGYGSPMPG
SLAMGPVTNKTGLDASPLAADTSYYQGVYSRPIMNSS
Sequence length 457
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Longevity regulating pathway - multiple species
Maturity onset diabetes of the young 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital syndromic hypopituitarism Likely pathogenic rs2514813303 RCV003228600
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FOXA2-related disorder Benign; Likely benign; Uncertain significance rs201350646, rs371309076, rs200967462, rs1203910, rs1800847, rs199654135, rs201700439, rs2514814471, rs529080992, rs561404961, rs562230926, rs149455805 RCV003921107
RCV003941150
RCV003941169
RCV003978748
RCV003978579
RCV003926722
RCV003906378
RCV003406133
RCV003908994
RCV003929617
RCV003937332
RCV003983297
Show/Hide Text Mining Associations (69)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 27586588, 30670912
Adenocarcinoma Mucinous Associate 33024306
Adenocarcinoma of Lung Associate 26658322, 30796052, 31503425
Barrett Esophagus Associate 27586588, 30670912
Biliary Atresia Associate 25765999
Breast Neoplasms Associate 31701999
Cakut Associate 34473308
Carcinogenesis Associate 26658322, 27538367, 29720137
Carcinoma Endometrioid Associate 28940304
Carcinoma Hepatocellular Associate 10799560, 1732730, 20967225, 25425543