ZFIN ID: ZDB-GENE-030131-7778
Gene Name: otoferlin a
Gene Symbol: otofa
Previous Names: otof, fj34b10, si:dkey-181f18.3, wu:fj34b10
Location: Chr: 20 Mapping Details/Browsers
Nomenclature History
GENE EXPRESSION
All Expression Data: 12 figures from 5 publications
Directly Submitted Expression Data: 6 figures (9 images) from Thisse et al., 2004 [IMAGE:7162231]
Wild-type Stages, Structures: Segmentation:14-19 somites (16.0h-19.0h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
  anatomical structure, brain, cranial ganglion, hair cell anterior macula (all 15) expand
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS 
Allele Type Mutagen Suppliers
sa17391 Point Mutation ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa18571 Point Mutation ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa23735 Point Mutation ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • European Zebrafish Resource Center (EZRC) (order this)
  • sa23736 Point Mutation ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Targeting reagents: MO1-otofa (1), MO2-otofa (1)
    PHENOTYPE
    Data: Fig. S6 from Chatterjee et al., 2015
    Observed in: locomotory behavior
    DISEASE ASSOCIATED WITH otofa HUMAN ORTHOLOG 
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    autosomal recessive nonsyndromic deafness Auditory neuropathy, autosomal recessive, 1 601071
    Deafness, autosomal recessive 9 601071
    GENE ONTOLOGY 
    Ontology GO Term
    Biological Process neuromuscular process controlling balance (more)
    Cellular Component synaptic vesicle membrane (more)
    Molecular Function calcium ion binding (more)
    GO Terms (all 14)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000008 (1)
  • InterPro:IPR012561 (1)
  • InterPro:IPR012968 (1)
  • InterPro:IPR029996 (1)
  • InterPro:IPR032362 (1)
  • PROSITE:PS50004 (1)
  • Pfam:PF00168 (1)
  • Pfam:PF08150 (1)
  • Pfam:PF08151 (1)
  • Pfam:PF16165 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA otofa-001 (1) 6894
    otofa-002 (1) 694
    otofa-003 (1) 437
    GENE PRODUCT DESCRIPTION
    ANTIBODIES 
    Ab1-otof (2)
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM otofa No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS 
    otofaContained in: [BAC] CH211-198B3 (1) (order this), DKEY-181F18 (1) (order this)
    otofaEncodes: [EST] fj34b10, IMAGE:7162231 (1) (order this)
    SEQUENCE INFORMATION 
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001030112 (1) 5979bp
    Genomic GenBank:AL929014 (1) 163523bp
    Select Tool
    Polypeptide UniProtKB:Q5SPC5 (1) 1992aa
    Sequence Clusters UniGene:22365 (1)
    Sequence Information (all 43)
    OTHER otofa GENE PAGES 
  • Gene:557476 (1)
  • VEGA:OTTDARG00000005611 (1)
  • Ensembl(GRCz10):ENSDARG00000030832 (1)
  • ORTHOLOGY for otofa (Chr: 20) 
    Species Symbol Chromosome Accession # Evidence
    Human OTOF 2
  • Gene:9381
  • OMIM:603681
  • HGNC:8515
  • Amino acid sequence comparison (2)
    Conserved genome location (synteny) (1)
    Mouse Otof 5
  • MGI:1891247
  • Gene:83762
  • Amino acid sequence comparison (1)
    Conserved genome location (synteny) (1)
    Download Curated Orthology
    CITATIONS (21)