Gene
OTOF
otoferlin
- HGNC 8515(opens in a new tab)
- Ensembl gene ENSG00000115155(opens in a new tab)
- NCBI Gene 9381(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 26,457,203–26,558,756 (GRCh38)
- Exons
- 47 exons across 101.6 kb
- Protein
- 1,997 amino acids
- Also known as
- FER1L2, DFNB6
- Previous symbols
- DFNB9
- MANE Select transcript
- ENST00000272371.7NM_194248.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hearing Loss and Deafness
- Auditory Neuropathy
Hearing loss in which the inner ear detects sound but the signal is not passed on normally to the hearing nerve, including inherited forms caused by OTOF and other genes.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Identifying the cause can affect the choice between hearing aids and cochlear implants, and OTOF-related forms are the subject of gene-therapy trials.
- Nonsyndromic Genetic Hearing Loss
One of 97 genes linked to it
Inherited hearing loss without other medical features, including the common recessive forms caused by GJB2, OTOF, SLC26A4, STRC and many other genes, as well as dominant, X-linked and mitochondrial forms.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the genetic cause can guide hearing support and cochlear implant decisions, gene-therapy trial eligibility (for example OTOF) and family counselling.
How OTOF is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.2 kb of the gene's 101.6 kb; 5,994 of those bases code for the protein.
How a genome test reads OTOF
164
positions in OTOF where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 101.6 kb of OTOF, introns included, not only the 7.2 kb of exons.
Variants with a page (7)
The OTOF variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.2215-1G>C | Intron 18 | 26,477,750 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.5193-1G>A | Intron 41 | 26,462,182 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E1700Q | c.5098G>C | Exon 40 | 26,463,969 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q829X | c.2485C>T | Exon 21 | 26,477,210 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R708X | c.2122C>T | Exon 18 | 26,479,356 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1583H | c.4748G>A | Exon 38 | 26,465,723 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R1792C | c.5374C>T | Exon 43 | 26,461,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to OTOF
The Human Phenotype Ontology lists these as features of the rare conditions OTOF can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). OTOF gene: otoferlin. Retrieved 16 October 2026, from https://dantelabs.com/genes/otof
Dante Labs. OTOF gene: otoferlin [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/otof
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