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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
Gene Name
Ensembl ID
  • ENST00000272371
  • ENSP00000272371
  • ENSG00000115155
  • ENST00000338581
  • ENSP00000345137
  • ENST00000339598
  • ENSP00000344521
  • ENST00000403946
  • ENSP00000385255
  • ENST00000646318
  • ENSP00000494578

Symbol
  • FER1L2
  • AUNB1
  • DFNB6
  • DFNB9
  • NSRD9
  • FER1L2
Illumination Graph
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


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: 174.93   (req: < 5)
Gene RIFs: 39   (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: 174.93   (req: >= 5)
Gene RIFs: 39   (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
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
No expression data found
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
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
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (115)
MYO15A
Tbio
Novelty:  0.0148787
Score:  0.808
Data Source:  STRINGDB
TMC1
Tbio
Family:  IC
Novelty:  0.00609628
Score:  0.795
Data Source:  STRINGDB
PJVK
Tbio
Novelty:  0.0419213
Score:  0.791
Data Source:  STRINGDB
SYT2
Tbio
Novelty:  0.00754735
Score:  0.76
Data Source:  STRINGDB
SLC17A8
Tbio
Family:  Transporter
Novelty:  0.00647654
Score:  0.754
Data Source:  STRINGDB
CDH23
Tbio
Novelty:  0.00588227
Score:  0.749
Data Source:  STRINGDB
SLC26A4
Tbio
Family:  Transporter
Novelty:  0.00162006
Score:  0.743
Data Source:  STRINGDB
EMG1
Tbio
Family:  Enzyme
Novelty:  0.00462566
Score:  0.74
Data Source:  STRINGDB
GJB2
Tbio
Novelty:  0.00056398
Score:  0.739
Data Source:  STRINGDB
RAB8B
Tbio
Family:  Enzyme
Novelty:  0.06230082
Score:  0.716
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (2)
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane (R-HSA-9609523)

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Items per page:
1 – 2 of 2
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)
No viral interactions found
Gene Ontology Terms (10)
Find Similar Targets
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Sequence or structural Similarity (ISS)
UniProtKB
Disease Associations ()
No disease associations found
GWAS Traits (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
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
No IDG generated resources found
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
Species
Name
OMA
EggNOG
Inparanoid
Mouse
Rat
Dog
otoferlin
Horse
otoferlin
Cow
otoferlin
Publication Statistics
PubMed Score 174.93
PubMed score by year
PubTator Score 93.85
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title