ZFIN ID: ZDB-GENE-030131-7778
Gene Name: otoferlin a
Gene Symbol: otofa
Sequence Ontology ID : SO:0000704

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Previous Names: otof, fj34b10, si:dkey-181f18.3, wu:fj34b10

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(Including Attributions)
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)
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 9 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
  • InterPro:IPR012561
  • InterPro:IPR012968
  • InterPro:IPR029996
  • InterPro:IPR032362
  • PROSITE:PS50004
  • Pfam:PF00168
  • Pfam:PF08150
  • Pfam:PF08151
  • Pfam:PF16165
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA otofa-001 (1) 6894
    otofa-002 (1) 694
    otofa-003 (1) 437
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Ab1-otof (2)
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM otofa No data available
    MARKER 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 1992aa
    Sequence Clusters UniGene:22365 (1)
    Sequence Information (all 41)
    OTHER otofa GENE PAGES
  • Gene:557476 (1)
  • VEGA:OTTDARG00000005611 (1)
  • Ensembl(GRCz10):ENSDARG00000030832 (1)
  • ORTHOLOGY for otofa (Chr: 20)
    CITATIONS (20)