OTOF Chromosome 2
Otoferlin
Upload your DNA to see your personal genotypes for variants in OTOF.
What This Gene Does
Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ferlin family
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000115155
Associated Conditions (28)
Auditory neuropathy spectrum disorder
Autosomal recessive nonsyndromic hearing loss 9
Nonsyndromic genetic hearing loss
OTOF-related disorder
Inborn genetic diseases
Hearing impairment
Auditory neuropathy
Hearing loss
autosomal recessive
Melanoma
Childhood onset hearing loss
Bilateral sensorineural hearing impairment
Thyroid cancer
nonmedullary
1
Rare genetic deafness
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
Uterine corpus endometrial carcinoma
Thymoma
+8 more conditions
Key Variants
RS1064795233
Conflicting classifications of pathogenicity
Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
Health Risk
RS111033329
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033330
Conflicting classifications of pathogenicity
Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss
Health Risk
RS111033351
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033352
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033366
Conflicting classifications of pathogenicity
Health Risk
RS111033393
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033396
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS111033424
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS112312933
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS117985483
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
RS11893228
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
Health Risk
All Variants (483)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2465578845 | Health Risk | Pathogenic | — |
| RS2465582430 | Health Risk | Pathogenic | — |
| RS2465582514 | Health Risk | Pathogenic | — |
| RS2465583966 | Health Risk | Pathogenic | — |
| RS2465584922 | Health Risk | Pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS2465584935 | Health Risk | Pathogenic | — |
| RS2465591579 | Health Risk | Pathogenic | — |
| RS2465593954 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS2465606097 | Health Risk | Pathogenic | — |
| RS28937591 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS368155547 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder, Autosomal recessive nonsyndromic hearing loss 9 |
| RS368947038 | Health Risk | Pathogenic | — |
| RS370132645 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS372324595 | Health Risk | Pathogenic | — |
| RS397515435 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Nonsyndromic genetic hearing loss, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515581 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515582 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515583 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515590 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515591 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness, OTOF-related disorder |
| RS397515597 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515601 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS397515610 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS564169177 | Health Risk | Pathogenic | Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder |
| RS572162678 | Health Risk | Pathogenic | — |
| RS727503352 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS727504639 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS727504936 | Health Risk | Pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS727504937 | Health Risk | Pathogenic | — |
| RS746469117 | Health Risk | Pathogenic | — |
| RS747539519 | Health Risk | Pathogenic | — |
| RS748545363 | Health Risk | Pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS750187920 | Health Risk | Pathogenic | — |
| RS751564248 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS757642790 | Health Risk | Pathogenic | — |
| RS758983524 | Health Risk | Pathogenic | — |
| RS760176622 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS764606007 | Health Risk | Pathogenic | — |
| RS765067013 | Health Risk | Pathogenic | — |
| RS766819324 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS767479112 | Health Risk | Pathogenic | — |
| RS772565732 | Health Risk | Pathogenic | — |
| RS772729658 | Health Risk | Pathogenic | — |
| RS773543852 | Health Risk | Pathogenic | — |
| RS779119416 | Health Risk | Pathogenic | — |
| RS779969253 | Health Risk | Pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS80356584 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9 |
| RS80356585 | Health Risk | Pathogenic | OTOF-related disorder, Nonsyndromic genetic hearing loss, OTOF-related disorder |
| RS80356587 | Health Risk | Pathogenic | Auditory neuropathy, autosomal recessive, 1 |
| RS80356590 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 9, Rare genetic deafness, Hearing loss |