OTOF - otoferlin Gene
Also Known as AUNB1; DFNB6; DFNB9; NSRD9; FER1L2
Species: Homo sapiens
About OTOF
This gene has 7 transcripts (splice variants), 282 orthologues, 4 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.
Summary
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]
OTOF Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001287489.2 | NP_001274418.1 | otoferlin isoform e |
| NM_004802.4 | NP_004793.2 | otoferlin isoform b |
| NM_194248.3 | NP_919224.1 | otoferlin isoform a |
| NM_194322.3 | NP_919303.1 | otoferlin isoform c |
| NM_194323.3 | NP_919304.1 | otoferlin isoform d |
OTOF Protein Structure
C2: C2 domain (19 - 81)
C2: C2 domain (257 - 328)
FerI: FerI (NUC094) domain (339 - 410)
C2: C2 domain (421 - 512)
FerB: FerB (NUC096) domain (842 - 919)
C2: C2 domain (962 - 1051)
C2: C2 domain (1155 - 1219)
C2: C2 domain (1495 - 1576)
C2: C2 domain (1815 - 1847)
- 0
- 400
- 800
- 1200
- 1600
- 1997 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
otoferlin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Recessive 9 |
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| Otof-Related Deafness |
|
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
|
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| Autosomal Recessive Nonsyndromic Deafness |
|
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| Ear Malformation |
|
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| Nonsyndromic Hearing Loss |
|
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| Deafness, Autosomal Recessive |
|
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| Non-Syndromic Genetic Deafness |
|
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| Rare Genetic Deafness |
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| Sensorineural Hearing Loss |
|
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
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| Dfnb1 |
|
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| Deafness, Autosomal Dominant 25 |
|
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| Deafness, Autosomal Recessive 59 |
|
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| Auditory Neuropathy, Autosomal Dominant 1 |
|
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| Deafness, Autosomal Recessive 85 |
|
|
| Immunoglobulin Heavy-And-Light Chain |
|
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| Deafness, Autosomal Recessive 16 |
|
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| Autosomal Recessive Nonsyndromic Deafness 3 |
|
|
| Y-Linked Deafness |
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| Neuropathy |
|
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| Deafness, Autosomal Recessive 1a |
|
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| Auditory System Disease |
|
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| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
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| Miyoshi Muscular Dystrophy |
|
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| Usher Syndrome, Type Iiia |
|
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| Deafness, Autosomal Dominant 36 |
|
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| Deafness, Autosomal Recessive 83 |
|
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| Deafness, Autosomal Recessive 2 |
|
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| Deafness, Autosomal Recessive 93 |
|
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| Deafness, Autosomal Recessive 21 |
|
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| Vestibular Disease |
|
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| Deafness, Autosomal Recessive 8 |
|
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| Deafness, Autosomal Recessive 12 |
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| Deafness, Autosomal Dominant 3a |
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| Ceroid Lipofuscinosis, Neuronal, 6a |
|
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| Cochlear Disease |
|
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| Deafness, Autosomal Recessive 39 |
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| Deafness, Autosomal Recessive 35 |
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| Deafness, Autosomal Dominant 22 |
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| Deafness, Autosomal Dominant 44 |
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| Deafness, Autosomal Dominant 9 |
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| Autosomal Dominant Nonsyndromic Deafness |
|
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
|
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| Usher Syndrome, Type Id |
|
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| Inner Ear Disease |
|
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| Usher Syndrome Type 2 |
|
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| Deafness, Autosomal Recessive 63 |
|
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| Pendred Syndrome |
|
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| Usher Syndrome, Type Iia |
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| X-Linked Nonsyndromic Deafness |
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| Waardenburg'S Syndrome |
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| Branchiootorenal Syndrome |
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| Jervell And Lange-Nielsen Syndrome 1 |
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| Usher Syndrome |
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| Usher Syndrome, Type I |
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| Otosclerosis |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
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| Bilirubin Metabolic Disorder |
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| Noonan Syndrome 1 |
|
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| Peripheral Nervous System Disease |
|
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| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | OTOF | VGNC | VGNC:68662 |
| Canis familiaris | OTOF | VGNC | VGNC:44176 |
| Macaca mulatta | OTOF | VGNC | VGNC:75724 |
| Mus musculus | OTOF | MGD | MGI:1891247 |
| Bos taurus | OTOF | VGNC | VGNC:32484 |
| Rattus norvegicus | OTOF | RGD | RGD:620646 |
| Others | OTOF | NCBI |