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
Show/Hide all (20)
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
Show/Hide all (3)
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.
52
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (52)
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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital syndromic hypopituitarism Likely pathogenic rs2514813303 RCV003228600
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORM — ClinGen, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED PITUITARY HORMONE DEFICIENCY GENETIC FORM — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPOPITUITARISM — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (162)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 28621319, 28778497
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26341558, 26658322, 30475207, 30796052
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 21037926, 28621319
★★★★★
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 7873876
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30012886
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27151939, 31531882
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29680833, 30576223
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 30061015
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 27586588
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus Pubtator 27586588, 30670912 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only