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    C2cd3 C2 domain containing 3 centriole elongation regulator [ Rattus norvegicus (Norway rat) ]

    Gene ID: 293148, updated on 9-Dec-2024

    Summary

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    Official Symbol
    C2cd3provided by RGD
    Official Full Name
    C2 domain containing 3 centriole elongation regulatorprovided by RGD
    Primary source
    RGD:1307366
    See related
    EnsemblRapid:ENSRNOG00000017608 AllianceGenome:RGD:1307366
    Gene type
    protein coding
    RefSeq status
    INFERRED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1307366
    Summary
    Predicted to be involved in centriole elongation; non-motile cilium assembly; and protein localization to centrosome. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and regulation of smoothened signaling pathway. Predicted to be located in centrosome and ciliary basal body. Predicted to be active in centriolar satellite and centriole. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XIV. Orthologous to human C2CD3 (C2 domain containing 3 centriole elongation regulator). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 66.1), Spleen (RPKM 60.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See C2cd3 in Genome Data Viewer
    Location:
    1q32
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (164127304..164225088)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (154715151..154812955)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (165382279..165480088)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene prolyl 4-hydroxylase subunit alpha 3 Neighboring gene protein phosphatase methylesterase 1 Neighboring gene uncharacterized LOC120099892 Neighboring gene uncoupling protein 3 Neighboring gene uncoupling protein 2

    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. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. Thauvin-Robinet C, et al. Nat Genet, 2014 Aug. PMID 24997988, Free PMC Article
    2. Discovering regulators of centriole biogenesis through siRNA-based functional genomics in human cells. Balestra FR, et al. Dev Cell, 2013 Jun 24. PMID 23769972
    3. C2cd3 is required for cilia formation and Hedgehog signaling in mouse. Hoover AN, et al. Development, 2008 Dec. PMID 19004860, Free PMC Article
    4. C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals. Ye X, et al. Proc Natl Acad Sci U S A, 2014 Feb 11. PMID 24469809, Free PMC Article
    5. Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods. Jakobsen L, et al. EMBO J, 2011 Apr 20. PMID 21399614, Free PMC Article

    See all (6) 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 brain development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in centriole elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole elongation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic digit morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within embryonic limb morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within heart looping ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural plate axis specification ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neural tube development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within pattern specification process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of proteolysis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centriolar satellite IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    C2 domain-containing protein 3
    Names
    C2 calcium-dependent domain containing 3

    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_001191602.1 → NP_001178531.1  C2 domain-containing protein 3

      Status: INFERRED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      A0A8I5ZV23, D3ZS69
      Related
      ENSRNOP00000082527.1, ENSRNOT00000115462.2
      Conserved Domains (2) summary
      cd00030
      Location:1655 → 1723
      C2; C2 domain
      cd08683
      Location:1179 → 1321
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

    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_086019.1 Reference GRCr8

      Range
      164127304..164225088
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063285140.1 → XP_063141210.1  C2 domain-containing protein 3 isoform X7

    2. XM_017588950.3 → XP_017444439.1  C2 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      D3ZS69
      Related
      ENSRNOP00000108131.1, ENSRNOT00000126897.1

    3. XM_017588952.3 → XP_017444441.1  C2 domain-containing protein 3 isoform X4

      UniProtKB/TrEMBL
      D3ZS69

    4. XM_017588951.3 → XP_017444440.1  C2 domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      D3ZS69

    5. XM_017588953.3 → XP_017444442.1  C2 domain-containing protein 3 isoform X5

      UniProtKB/TrEMBL
      D3ZS69

    6. XM_063285137.1 → XP_063141207.1  C2 domain-containing protein 3 isoform X6

      UniProtKB/TrEMBL
      D3ZS69

    7. XM_063285131.1 → XP_063141201.1  C2 domain-containing protein 3 isoform X3

      UniProtKB/TrEMBL
      D3ZS69
      Related
      ENSRNOP00000100009.1, ENSRNOT00000168000.1

    RNA

    1. XR_005502031.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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