Gene

otofa

ID
ZDB-GENE-030131-7778
Name
otoferlin a
Symbol
otofa Nomenclature History
Previous Names
  • otof
  • fj34b10
  • si:dkey-181f18.3
  • wu:fj34b10
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. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Is expressed in nervous system; otic vesicle; and trigeminal placode. Orthologous to human OTOF (otoferlin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
15 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Chatterjee et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human 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
autosomal recessive nonsyndromic deafness 9 Alliance Deafness, autosomal recessive 9 601071
Associated With otofa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000008 C2 domain
Domain IPR012561 Ferlin B-domain
Domain IPR012968 FerIin domain
Domain IPR032362 Ferlin, C-terminal domain
Domain IPR037720 Ferlin, second C2 domain
Domain IPR037722 Ferlin, third C2 domain
Domain IPR037723 Ferlin, fourth C2 domain
Domain IPR037724 Ferlin, fifth C2 domain
Domain IPR037725 Ferlin, sixth C2 domain
Domain IPR037726 Ferlin, first C2 domain
Family IPR037721 Ferlin family
Homologous_superfamily IPR035892 C2 domain superfamily
Domain Details Per Protein
Protein Length C2 domain C2 domain superfamily FerIin domain Ferlin B-domain Ferlin, C-terminal domain Ferlin family Ferlin, fifth C2 domain Ferlin, first C2 domain Ferlin, fourth C2 domain Ferlin, second C2 domain Ferlin, sixth C2 domain Ferlin, third C2 domain
UniProtKB:A0A8M3AT93 2046
UniProtKB:A0A8M3B468 1994
UniProtKB:X1WB77 1992
UniProtKB:A0A8M3AT99 2022
UniProtKB:A0A8M9PPD5 2036
UniProtKB:A0A8M3AWA4 2036
UniProtKB:A0A8M9PBS5 2020
UniProtKB:A0A8M9P2M0 2008
UniProtKB:Q5SPC5 1992
UniProtKB:A0A8M3ALK6 2044
UniProtKB:A0A8M3AKW9 2018
UniProtKB:A0A8M3B462 2044
UniProtKB:A0A8M3AKW3 2046
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-otof monoclonal IgG2a Mouse
  • IHC
Developmental Studies Hybridoma Bank
37
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations