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 enable AP-2 adaptor complex binding activity and calcium ion binding activity. Acts upstream of or within neuromuscular process controlling balance; response to auditory stimulus; and synaptic vesicle recycling. Predicted to be located in membrane. Predicted to be active in 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
- 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