ZFIN ID: ZDB-GENE-110406-5
Gene Name: otoferlin b
Gene Symbol: otofb    Nomenclature History

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Previous Name: si:ch73-50f9.1

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(Including Attributions)
Gene 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: Alliance (1),  Gene:100331283 (1),  Ensembl(GRCz11):ENSDARG00000020581 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa13068 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14223 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16297 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa17767 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa28936 Point Mutation Unknown Splice Site ENU
    sa43010 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-otofb N/A 2
    MO2-otofb N/A 2
    PHENOTYPE
    Data: Fig. S6 from Chatterjee et al., 2015
    Observed in:
    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
    Deafness, autosomal recessive 9 601071
    DISEASE ASSOCIATED WITH otofb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process neuromuscular process controlling balance (more)
    Cellular Component integral component of membrane (more)
    Molecular Function calcium ion binding (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA otofb-202 (1)    Ensembl 540
    otofb-203 (1)    Ensembl 8070
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-otof monoclonal IgG2a Mouse IHC Developmental Studies Hybridoma Bank
    27
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM otofb No data available
    MARKER RELATIONSHIPS
    otofb Contained in: [BAC] CH73-50F9 (1), CH73-188E10 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_017351874 (1)
    Genomic GenBank:CU459072 (1) 117048 nt
    Select Tool
    Polypeptide UniProtKB:F8W4A8 (1) 1773 aa
    Sequence Information (all 13)
    ORTHOLOGY for otofb ( Chr: 17 )
    CITATIONS (19)