Tbio OTOF Otoferlin

Protein Summary

Description

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). 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]

Uniprot Accession IDs

• Q9HC10
• B4DJX0
• B5MCC1
• B9A0H6
• Q53R90
• Q9HC08
• Q9HC09
• Q9Y650

Gene Name

• OTOF

Ensembl ID

• ENST00000272371
• ENSP00000272371
• ENSG00000115155
• ENST00000338581
• ENSP00000345137
• ENST00000339598
• ENSP00000344521
• ENST00000403946
• ENSP00000385255
• ENST00000646318
• ENSP00000494578

Symbol

• FER1L2
• AUNB1
• DFNB6
• DFNB9
• NSRD9
• FER1L2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.68
tissue sample	0.63
cell type or tissue	0.6
protein domain	0.58
tissue	0.56

Protein Classes

PANTHER Classes

Protein / Membrane Traffic Protein / Otoferlin

DTO Classes

Protein / Transporter / Otoferlin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 208.08   (req: < 5)

Gene RIFs: 59   (req: <= 3)

Antibodies: 58   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 208.08   (req: >= 5)

Gene RIFs: 59   (req: > 3)

Antibodies: 58   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0