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

Gene ID: 36982, updated on 27-Mar-2024

Summary

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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; and intellectual disability. Orthologous to several human genes including CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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. 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
  3. 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
  4. CEP290 is essential for the initiation of ciliary transition zone assembly. Wu Z, et al. PLoS Biol, 2020 Dec. PMID 33370260, Free PMC Article
  5. A new family of cyclophilins with an RNA recognition motif that interact with members of the trx/MLL protein family in Drosophila and human cells. Anderson M, et al. Dev Genes Evol, 2002 Apr. PMID 11976948

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

General gene information

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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

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Preferred Names
Coiled-coil and C2 domain containing 2A
Names
CG43370-PD
Cc2d2a-PD

NCBI Reference Sequences (RefSeq)

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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

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