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ZIRC
ZFIN ID: ZDB-GENE-030131-2291
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Gene Name: coiled-coil and C2 domain containing 2A
Gene Symbol: cc2d2a
Sequence Ontology ID : SO:0001217

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Previous Names: fc03c12, sentinel (1), wu:fc03c12

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(Including Attributions)
Location: Chr: 23 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Involved in photoreceptor cell outer segment organization. Localizes to the photoreceptor connecting cilium. Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in Joubert  ...
GENE EXPRESSION
All Expression Data: 7 figures from 6 publications
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la022551Tg Transgenic Insertion Unknown Unknown DNA
la022556Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
    • la028505Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa10580 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa13219 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa16835 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa24244 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • sa29863 Point Mutation Unknown Splice Site ENU
    sa32422 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • w38 Point Mutation Unknown Premature Stop ENU
    w123 Point Mutation Intron 20 Frameshift ENU
    PHENOTYPE
    Data: 14 figures from 5 publications
    Observed in:
    DISEASE ASSOCIATED WITH cc2d2a HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    Joubert syndrome 9 Joubert syndrome 9 612285
    Meckel syndrome 6 Meckel syndrome 6 612284
    COACH syndrome 216360
    DISEASE ASSOCIATED WITH cc2d2a VIA EXPERIMENTAL MODELS
    Human Disease Fish Conditions Citations
    Joubert syndrome cc2d2aw38/w38 standard conditions Bachmann-Gagescu et al., 2011
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process photoreceptor cell outer segment organization (more)
    Cellular Component photoreceptor connecting cilium (more)
    GO Terms (all 2)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR000008 (1)
  • InterPro:IPR028928 (1)
  • InterPro:IPR035892 (1)
  • InterPro:IPR041510 (1)
  • Pfam:PF00168 (1)
  • Pfam:PF15625 (1)
  • Pfam:PF17661 (1)
    • TRANSCRIPTS No data available
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cc2d2a No data available
    MARKER RELATIONSHIPS
    cc2d2a Encodes: [EST] fc03c12
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_003201161 (1)
    Select Tool
    Genomic GenBank:CABZ01048674 (1) 78129 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8QEZ0 (1) 1675 aa
    Select Tool
    Sequence Clusters UniGene:77991 (1)
    Sequence Information (all 19)
    OTHER cc2d2a GENE PAGES
  • Alliance (1)
  • Gene:570250 (1)
  • Ensembl(GRCz11):ENSDARG00000090971 (2)
    • ORTHOLOGY for cc2d2a ( Chr: 23 )
    CITATIONS (25)