ZFIN ID: ZDB-GENE-030131-2291
Gene Name: coiled-coil and C2 domain containing 2A
Gene Symbol: cc2d2a    Nomenclature History

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

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Involved in photoreceptor cell outer segment organization. Localizes to photoreceptor connecting cilium. Is expressed in central nervous system; pronephric duct; and receptor cell (sensu Animalia). Used to study Joubert syndrome. Human ortholog(s) of this gene implicated in COACH syndrome; Joubert syndrome 9; Meckel syndrome 6; and intellectual disability. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A).
Genome Resources: Alliance (1),  Gene:570250 (1),  Ensembl(GRCz11):ENSDARG00000090971 (2)
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
    DISEASE ASSOCIATED WITH cc2d2a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    COACH syndrome Alliance COACH syndrome 216360
    Joubert syndrome 9 Alliance Joubert syndrome 9 612285
    Meckel syndrome 6 Alliance Meckel syndrome 6 612284
    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 No links to external sites available
    TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-cc2d2a monoclonal IgG1 Mouse IHC, WB 8
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cc2d2a No data available
    MARKER RELATIONSHIPS
    cc2d2a Encodes: [EST] fc03c12
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_003201161 (1)
    Genomic GenBank:CABZ01048674 (1) 78129 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8QEZ0 (1) 1675 aa
    Sequence Information (all 18)
    ORTHOLOGY for cc2d2a ( Chr: 23 )
    CITATIONS (26)