Protein Summary
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]
- ENST00000272371
- ENSP00000272371
- ENSG00000115155
- ENST00000338581
- ENSP00000345137
- ENST00000339598
- ENSP00000344521
- ENST00000403946
- ENSP00000385255
- ENST00000646318
- ENSP00000494578
- FER1L2
- AUNB1
- DFNB6
- DFNB9
- NSRD9
- FER1L2
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
IDG Development Level Summary
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: 174.93 (req: < 5)
Gene RIFs: 39 (req: <= 3)
Antibodies: 58 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 174.93 (req: >= 5)
Gene RIFs: 39 (req: > 3)
Antibodies: 58 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 4
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (115)
Nearest Tclin Targets
Pathways (2)
Reactome (2)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Insertion of tail-anchored proteins into the endoplasmic reticulum membrane | ||||
Reactome | Protein localization | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane | ||||
Protein localization | ||||
Viral Interactions (0)
Gene Ontology Terms (10)
Functions (1)
Components (6)
Processes (3)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Sequence or structural Similarity (ISS) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (2)
Items per page:
1 – 2 of 2
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
vital capacity | 1 | 1 | 1 | 47.7 | |||||
apolipoprotein A 1 measurement | 1 | 1 | 1 | 21.5 | |||||
Items per page:
1 – 2 of 2
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
vital capacity | 1 | 47.7 | |||||
apolipoprotein A 1 measurement | 1 | 21.5 | |||||
Find similar targets by:
IDG Resources
Orthologs (9)
1 – 5 of 9
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Mouse | MGI:1891247 | 83762 | ||||||
Rat | RGD:620646 | 84573 | ||||||
Dog | otoferlin | VGNC:44176 | 607961 | |||||
Horse | otoferlin | VGNC:21080 | 100071343 | |||||
Cow | otoferlin | VGNC:32484 | 617299 | |||||
Publication Statistics
PubMed Score 174.93
PubMed score by year
PubTator Score 93.85
PubTator score by year
Related Publications
Text Mined References (47)
GeneRif Annotations (39)
Items per page:
0 of 0
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