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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 (Otoferlin) is a Protein Coding gene. Diseases associated with OTOF include Deafness, Autosomal Recessive 9 and Otof-Related Deafness. Gene Ontology (GO) annotations related to this gene include calcium ion binding and AP-2 adaptor complex binding. An important paralog of this gene is FER1L6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0005509 | calcium ion binding | IEA,ISS | -- |
GO:0035612 | AP-2 adaptor complex binding | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005829 | cytosol | TAS | 10192385 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007009 | plasma membrane organization | IBA | 21873635 |
GO:0007605 | sensory perception of sound | TAS,IEA | -- |
GO:0016079 | synaptic vesicle exocytosis | IEA,ISS | -- |
GO:0016082 | synaptic vesicle priming | IBA | 21873635 |
GO:0061025 | membrane fusion | TAS | 10192385 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OTOF 30 |
|
||
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | OTOF 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OTOF 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OTOF 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Otof 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Otof 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | OTOF 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | OTOF 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OTOF 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | otof 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | OTOF (1 of 2) 31 |
|
OneToMany | |
otof 30 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000389 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5747 32 |
|
|
|
mfr 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | fer-1 31 |
|
ManyToMany | |
ferl-1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9502 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
856005 | Uncertain Significance: not provided | 26,466,730(-) |
C/T NM_194248.3(OTOF):c.4484G>A (p.Arg1495Gln) |
MISSENSE | |
871080 | Uncertain Significance: not provided | 26,495,048(-) |
C/T NM_194248.3(OTOF):c.791G>A (p.Arg264Gln) |
MISSENSE | |
894898 | Likely Benign: Deafness, autosomal recessive 9 | 26,458,018(-) |
G/A NM_194248.3(OTOF):c.*220C>T |
THREE_PRIME_UTR | |
894899 | Uncertain Significance: Deafness, autosomal recessive 9 | 26,458,224(-) |
G/A NM_194248.3(OTOF):c.*18-4C>T |
INTRON | |
894900 | Uncertain Significance: Deafness, autosomal recessive 9 | 26,460,862(-) |
A/G NM_194248.3(OTOF):c.5702T>C (p.Phe1901Ser) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv33316 | CNV | loss | 17666407 |
esv3435082 | CNV | duplication | 20981092 |
esv3583675 | CNV | loss | 25503493 |
esv3583676 | CNV | loss | 25503493 |
nsv1071984 | CNV | deletion | 25765185 |
nsv1126545 | CNV | deletion | 24896259 |
nsv455941 | CNV | loss | 19166990 |
nsv455952 | CNV | loss | 19166990 |
nsv517800 | CNV | loss | 19592680 |
nsv581241 | CNV | loss | 21841781 |
nsv817662 | CNV | loss | 17921354 |
nsv819195 | CNV | gain | 19587683 |
nsv953759 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 9 |
|
|
otof-related deafness |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
deafness, autosomal recessive |
|
|
rare genetic deafness |
|
|