U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Cc2d2a Coiled-coil and C2 domain containing 2A [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36982, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Cc2d2aprovided by FlyBase
    Official Full Name
    Coiled-coil and C2 domain containing 2Aprovided by FlyBase
    Primary source
    FLYBASE:FBgn0263113
    Locus tag
    Dmel_CG43370
    See related
    AllianceGenome:FB:FBgn0263113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    cc2d2a; CC2D2A; CG18432; CG18631; CG43370; Dmel\CG43370; Mks6; MKS6
    Old locus tag
    Dmel_CG18432; Dmel_CG18631
    Summary
    Predicted to be involved in non-motile cilium assembly and protein localization to ciliary transition zone. Located in ciliary transition zone. Human ortholog(s) of this gene implicated in Joubert syndrome 9; Meckel syndrome 6; intellectual disability; and retinitis pigmentosa. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A) and CC2D2B (coiled-coil and C2 domain containing 2B). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Cc2d2a in Genome Data Viewer
    Location:
    54C3-54C3; 2-83 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (17539322..17544353)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (13426827..13431858)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene patronin Neighboring gene eukaryotic translation initiation factor 3 subunit b Neighboring gene uncharacterized protein Neighboring gene cyclophilin-33 Neighboring gene Ribosomal protein L18A

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Drosophila transition fibers are essential for IFT-dependent ciliary elongation but not basal body docking and ciliary budding. Hou Y, et al. Curr Biol, 2023 Feb 27. PMID 36669498
    2. Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation. Wu Z, et al. PLoS Biol, 2024 Mar. PMID 38442096, Free PMC Article
    3. Drosophila PLP assembles pericentriolar clouds that promote centriole stability, cohesion and MT nucleation. Roque H, et al. PLoS Genet, 2018 Feb. PMID 29425198, Free PMC Article
    4. IFT52 plays an essential role in sensory cilia formation and neuronal sensory function in Drosophila. Hou YN, et al. Insect Sci, 2023 Aug. PMID 36326027
    5. Functional Analysis of Hydrolethalus Syndrome Protein HYLS1 in Ciliogenesis and Spermatogenesis in Drosophila. Hou Y, et al. Front Cell Dev Biol, 2020. PMID 32509774, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

    Go to the top of the page Help

    Homology

    Gene Ontology Provided by FlyBase

    Process Evidence Code Pubs
    involved_in cilium assembly ISM
    Inferred from Sequence Model
    more info
    		 PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    Coiled-coil and C2 domain containing 2A
    Names
    CG43370-PD
    Cc2d2a-PD

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      17539322..17544353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_137385.2 → NP_611229.2  Coiled-coil and C2 domain containing 2A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_611229.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A1ZAV1, D6W4W4, Q8MRX3
      Conserved Domains (2) summary
      pfam00168
      Location:824 → 917
      C2; C2 domain
      pfam15625
      Location:421 → 579
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1ZAV1.2 A1ZAV1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Molecular Biology Databases
    Research Materials
    Tools