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. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 9. Is expressed in inner ear; lateral line system; and otic sensory epithelium. Orthologous to human OTOF (otoferlin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PLM2
|
1773 | |||||||||||
|
UniProtKB:A0A8M9P0R6
|
1773 | |||||||||||
|
UniProtKB:F8W4A8
|
1773 |
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
|
41 |
Plasmids
No data available