Gene

otofb

ID
ZDB-GENE-110406-5
Name
otoferlin b
Symbol
otofb Nomenclature History
Previous Names
  • si:ch73-50f9.1
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to have AP-2 adaptor complex binding activity and calcium ion binding activity. Involved in neuromuscular process controlling balance and response to auditory stimulus. Predicted to localize to presynaptic active zone membrane and synaptic vesicle membrane. Is expressed in inner ear; lateral line system; and otic sensory epithelium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Orthologous to human OTOF (otoferlin).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. S6 from Chatterjee et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With otofb 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 otofb 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
Family IPR029996 Otoferlin
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, fourth C2 domain Ferlin, second C2 domain Ferlin, sixth C2 domain Ferlin, third C2 domain Otoferlin
UniProtKB:F8W4M0 180
UniProtKB:F8W4A8 1773
UniProtKB:F1QFI6 1235
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
27
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations