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    Cc2d2a coiled-coil and C2 domain containing 2A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 498386, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Cc2d2aprovided by RGD
    Official Full Name
    coiled-coil and C2 domain containing 2Aprovided by RGD
    Primary source
    RGD:1561042
    See related
    EnsemblRapid:ENSRNOG00000059715 AllianceGenome:RGD:1561042
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1561042
    Summary
    Predicted to be involved in cilium assembly and protein localization to ciliary transition zone. Predicted to act upstream of or within several processes, including cilium assembly; embryonic brain development; and neural tube closure. Predicted to be located in ciliary transition zone. Predicted to be part of MKS complex. 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). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Adrenal (RPKM 77.4), Lung (RPKM 74.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Cc2d2a in Genome Data Viewer
    Location:
    14q21
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 14 NC_086032.1 (71563835..71648352, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 14 NC_051349.1 (67349004..67435883, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 14 NC_005113.4 (71895128..71979452, complement)

    Chromosome 14 - NC_086032.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC108352765 Neighboring gene cytochrome c, somatic pseudogene Neighboring gene F-box and leucine-rich repeat protein 5 Neighboring gene C1q and TNF related 7 Neighboring gene protein BEX4-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Bachmann-Gagescu R, et al. J Med Genet, 2012 Feb. PMID 22241855
    2. Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Noor A, et al. Am J Hum Genet, 2008 Nov. PMID 19068953, Free PMC Article
    3. Positive association of CC2D1A and CC2D2A gene haplotypes with mental retardation in a Han Chinese population. Shi ZY, et al. DNA Cell Biol, 2012 Jan. PMID 22023432
    4. Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Veleri S, et al. Nat Commun, 2014 Jun 20. PMID 24947469, Free PMC Article
    5. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C, et al. PLoS Biol, 2016 Mar. PMID 26982032, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    acts_upstream_of_or_within axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within camera-type eye development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within heart development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within kidney development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube closure ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of MKS complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil and C2 domain-containing protein 2A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001427810.1 → NP_001414739.1  coiled-coil and C2 domain-containing protein 2A

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000014
      UniProtKB/TrEMBL
      A0A8I5ZN73
      Related
      ENSRNOP00000079329.1, ENSRNOT00000115362.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086032.1 Reference GRCr8

      Range
      71563835..71648352 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063273468.1 → XP_063129538.1  coiled-coil and C2 domain-containing protein 2A isoform X2

    2. XM_063273470.1 → XP_063129540.1  coiled-coil and C2 domain-containing protein 2A isoform X4

    3. XM_063273469.1 → XP_063129539.1  coiled-coil and C2 domain-containing protein 2A isoform X3

    4. XM_063273467.1 → XP_063129537.1  coiled-coil and C2 domain-containing protein 2A isoform X1

      UniProtKB/TrEMBL
      A0A8I5ZN73

    5. XM_063273473.1 → XP_063129543.1  coiled-coil and C2 domain-containing protein 2A isoform X6

    6. XM_063273471.1 → XP_063129541.1  coiled-coil and C2 domain-containing protein 2A isoform X5

    7. XM_063273472.1 → XP_063129542.1  coiled-coil and C2 domain-containing protein 2A isoform X5

    8. XM_063273474.1 → XP_063129544.1  coiled-coil and C2 domain-containing protein 2A isoform X7

    9. XM_063273475.1 → XP_063129545.1  coiled-coil and C2 domain-containing protein 2A isoform X8

    10. XM_039092795.2 → XP_038948723.1  coiled-coil and C2 domain-containing protein 2A isoform X9

      Conserved Domains (3) summary
      pfam15625
      Location:645 → 819
      CC2D2AN-C2; CC2D2A N-terminal C2 domain
      pfam17661
      Location:138 → 382
      DUF5523; Family of unknown function (DUF5523)
      cl21456
      Location:505 → 584
      Periplasmic_Binding_Protein_Type_2; Type 2 periplasmic binding fold superfamily
    Nucleotide Protein Strain
    Heading Accession and Version

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