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 enable AP-2 adaptor complex binding activity and calcium ion binding activity. Acts upstream of or within several processes, including response to auditory stimulus; sensory perception of sound; and startle response. Predicted to be located in trans-Golgi network. Predicted to be active in 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
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7162231 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Chatterjee et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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 |
| Domain | IPR055072 | Ferlin, dsRNA-binding domain-like domain |
| Family | IPR037721 | Ferlin family |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | FerIin domain | Ferlin B-domain | Ferlin, C-terminal domain | Ferlin, dsRNA-binding domain-like 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 | InterPro | 2046 | |||||||||||||
| UniProtKB:A0A8M3B468 | InterPro | 1994 | |||||||||||||
| UniProtKB:X1WB77 | InterPro | 1992 | |||||||||||||
| UniProtKB:A0A8M3AT99 | InterPro | 2022 | |||||||||||||
| UniProtKB:A0A8M9PPD5 | InterPro | 2036 | |||||||||||||
| UniProtKB:A0A8M3AWA4 | InterPro | 2036 | |||||||||||||
| UniProtKB:A0A8M9PBS5 | InterPro | 2020 | |||||||||||||
| UniProtKB:A0A8M9P2M0 | InterPro | 2008 | |||||||||||||
| UniProtKB:Q5SPC5 | InterPro | 1992 | |||||||||||||
| UniProtKB:A0A8M3ALK6 | InterPro | 2044 | |||||||||||||
| UniProtKB:A0A8M3AKW9 | InterPro | 2018 | |||||||||||||
| UniProtKB:A0A8M3B462 | InterPro | 2044 | |||||||||||||
| UniProtKB:A0A8M3AKW3 | InterPro | 2046 | |||||||||||||
| UniProtKB:A0AB32T8F1 | InterPro | 1992 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-otof | monoclonal | IgG2a | Mouse |
|
Developmental Studies Hybridoma Bank
|
48 |
Plasmids
No data available