Research
General Information
ZIRC
ZFIN ID: ZDB-GENE-030131-7778
Gene Name: otoferlin a
Gene Symbol: otofa
Previous Names: otof, fj34b10, si:dkey-181f18.3, wu:fj34b10
Nomenclature History
GENE EXPRESSION
All Expression Data: 9 figures from 3 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)
  cranial ganglion, hair cell anterior macula, hindbrain, lateral line hair cell (all 10) expand
Curated Microarray Expression: GEO (1)
MUTANTS AND TARGETED KNOCKDOWNS
Alleles: sa17391, sa18571, sa23735, sa23736
PHENOTYPE
Phenotype of Human Orthologue OMIM Phenotype ID
Auditory neuropathy, autosomal recessive, 1 601071
Deafness, autosomal recessive 9 601071
GENE ONTOLOGY
Ontology GO Term
Biological Process synaptic vesicle exocytosis (more)
Cellular Component synaptic vesicle membrane (more)
Molecular Function calcium ion binding (more)
GO Terms (all 12)
PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000008 (1)
  • InterPro:IPR012561 (1)
  • InterPro:IPR012968 (1)
  • PROSITE:PS50004 (1)
  • Pfam:PF00168 (1)
  • Pfam:PF08150 (1)
  • Pfam:PF08151 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA otof-001 (1) 6894
    otof-002 (1) 694
    otof-003 (1) 437
    GENE PRODUCT DESCRIPTION
    ANTIBODIES
    Ab1-otof (1)
    CONSTRUCTS WITH SEQUENCES FROM otofa No data available
    SEGMENT (CLONE AND PROBE) RELATIONSHIPS
    otofa Contained in: [BAC] CH211-198B3 (1) (order this), DKEY-181F18 (1)
    otofa Encodes: [EST] fj34b10, IMAGE:7162231 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001030112 (1) 5979 bp
    Genomic GenBank:AL929014 (1) 163523 bp
    Select Tool
    Polypeptide UniProtKB:Q5SPC5 (1) 1992 aa
    Sequence Clusters UniGene:22365 (1)
    Sequence Information (all 28)
    OTHER otofa GENE PAGES
  • Gene:557476 (1)
  • VEGA:OTTDARG00000005611 (1)
  • Ensembl(Zv9):ENSDARG00000030832 (1)
  • MAPPING INFORMATION
    Chr: 20 Details
    ORTHOLOGY
      Evidence
    Species Symbol Chromosome (Position) Accession # AA CL
    Zebrafish otofa 20  
    Human OTOF 2 (2p23.1)
  • OMIM:603681
  • Gene:9381
  • Mouse Otof 5 ( 16.48 cM)
  • MGI:1891247
  • Gene:83762
  • CITATIONS (18)