FOXI1 forkhead box I1
Gene ID: 2299, updated on 8-Jul-2024Gene type: protein coding
Also known as: HFH3; FKH10; HFH-3; FKHL10; FREAC6; FREAC-6
- See all available tests in GTR for this gene
- Go to complete Gene record for FOXI1
- Go to Variation Viewer for FOXI1 variants
Summary
This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive nonsyndromic hearing loss 4 MedGen: C3538946OMIM: 600791GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct | See labs |
| Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. GeneReviews: Not available | |
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Pendred syndrome MedGen: C0271829OMIM: 274600GeneReviews: Genetic Hearing Loss Overview, Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct | See labs |
Genomic context
- Location:
- 5q35.1
- Sequence:
- Chromosome: 5; NC_000005.10 (170105897..170109737)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FOXI1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FOXI1 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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