Gene Gene information from NCBI Gene database.
Entrez ID 2295
Gene name Forkhead box F2
Gene symbol FOXF2
Synonyms (NCBI Gene)
FKHL6FREAC-2FREAC2
Chromosome 6
Chromosome location 6p25.3
Summary FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by R
miRNA miRNA information provided by mirtarbase database.
228
miRTarBase ID miRNA Experiments Reference
MIRT007330 hsa-miR-182-5p Luciferase reporter assay 23383207
MIRT022115 hsa-miR-124-3p Microarray 18668037
MIRT028797 hsa-miR-26b-5p Microarray 19088304
MIRT612027 hsa-miR-8485 HITS-CLIP 23824327
MIRT612026 hsa-miR-346 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8626802
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603250 3810 ENSG00000137273
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12947
Protein name Forkhead box protein F2 (Forkhead-related activator 2) (FREAC-2) (Forkhead-related protein FKHL6) (Forkhead-related transcription factor 2)
Protein function Probable transcription activator for a number of lung-specific genes (PubMed:8626802). Mediates up-regulation of the E3 ligase IRF2BPL and drives ubiquitination and degradation of CTNNB1 (PubMed:29374064). {ECO:0000269|PubMed:29374064, ECO:00002
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 99 185 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Lung and placenta (PubMed:8626802). Predominantly expressed in gastrointestinal tract including stomach (PubMed:29374064). {ECO:0000269|PubMed:29374064, ECO:0000269|PubMed:8626802}.
Sequence
MTTEGGPPPAPLRRACSPVPGALQAALMSPPPAAAAAAAAAPETTSSSSSSSSASCASSS
SSSNSASAPSAACKSAGGGGAGAGSGGAKKASSGLRRPEKPPYSYIALIVMAIQSSPSKR
LTLSEIYQFLQARFPFFRGAYQGWKNSVRHNLSLNECFIKLPKGLGRPGKGHYWTIDPAS
EFMFE
EGSFRRRPRGFRRKCQALKPMYHRVVSGLGFGASLLPQGFDFQAPPSAPLGCHSQ
GGYGGLDMMPAGYDAGAGAPSHAHPHHHHHHHVPHMSPNPGSTYMASCPVPAGPGGVGAA
GGGGGGDYGPDSSSSPVPSSPAMASAIECHSPYTSPAAHWSSPGASPYLKQPPALTPSSN
PAASAGLHSSMSSYSLEQSYLHQNAREDLSVGLPRYQHHSTPVCDRKDFVLNFNGISSFH
PSASGSYYHHHHQSVCQDIKPCVM
Sequence length 444
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR ACCIDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FOXF2-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Agranulocytosis Associate 27157822
★☆☆☆☆
Found in Text Mining only
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity Associate 30917284
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 23620774, 26070560, 28829888, 35660418
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 26210254
★☆☆☆☆
Found in Text Mining only
Bronchopulmonary Dysplasia Associate 30459472
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 27487137
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Stimulate 31858547
★☆☆☆☆
Found in Text Mining only
Cleft Palate Associate 19276632, 30917284
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 28849155, 30987631, 32103872
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 19276632
★☆☆☆☆
Found in Text Mining only