ZFIN ID: ZDB-GENE-030131-7778
Gene Name: otoferlin a
Gene Symbol: otofa    Nomenclature History

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Previous Names: otof, fj34b10, si:dkey-181f18.3, wu:fj34b10

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 20 Mapping Details/Browsers
Description: Predicted to have AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in several processes, including response to auditory stimulus; sensory perception of sound; and startle response. Predicted to localize to presynaptic active zone membrane and synaptic vesicle membrane. Is expressed in nervous system; otic vesicle; and trigeminal placode. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin).
Genome Resources: Alliance (1),  Gene:557476 (1),  Ensembl(GRCz11):ENSDARG00000030832 (2)
PHENOTYPE
Data: Fig. S6 from Chatterjee et al., 2015
Observed in:
DISEASE ASSOCIATED WITH otofa HUMAN ORTHOLOG
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 9 Alliance Auditory neuropathy, autosomal recessive, 1 601071
Deafness, autosomal recessive 9 601071
DISEASE ASSOCIATED WITH otofa VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Biological Process sensory perception of sound (more)
Cellular Component synaptic vesicle membrane (more)
Molecular Function calcium ion binding (more)
GO Terms (all 24)
PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA otofa-202 (1)    Ensembl 6894
otofa-203 (1)    Ensembl 437
otofa-204 (1)    Ensembl 694
Browsers: UCSCNCBIEnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES
Name Type Isotype Host Organism Assay Source Publications
Ab1-otof monoclonal IgG2a Mouse IHC Developmental Studies Hybridoma Bank
27
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM otofa No data available
MARKER RELATIONSHIPS
otofa Contained in: [BAC] CH211-198B3 (1), DKEY-181F18 (1) (order this)
otofa Encodes: [EST] fj34b10, IMAGE:7162231 (1)
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
RNA RefSeq:NM_001030112 (1) 5979 nt
Genomic GenBank:AL929014 (1) 163523 nt
Select Tool
Polypeptide UniProtKB:Q5SPC5 (1) 1992 aa
Sequence Information (all 40)
ORTHOLOGY for otofa ( Chr: 20 )
CITATIONS (31)