FOXF1 forkhead box F1
Gene ID: 2294, updated on 10-Dec-2024Gene type: protein coding
Also known as: FKHL5; ACDMPV; FREAC1
- See all available tests in GTR for this gene
- Go to complete Gene record for FOXF1
- Go to Variation Viewer for FOXF1 variants
Summary
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus. GeneReviews: Not available | |
| Alveolar capillary dysplasia with pulmonary venous misalignment | See labs |
| Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. GeneReviews: Not available | |
| Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
| Identification of a candidate gene for astigmatism. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2013-06-20) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 16q24.1
- Sequence:
- Chromosome: 16; NC_000016.10 (86510527..86515422)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FOXF1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FOXF1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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