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

Gene ID: 293148, updated on 13-Apr-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
Ensembl: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 and non-motile cilium assembly. Predicted to act upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and protein localization to centrosome. 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. Orthologous to human C2CD3 (C2 domain containing 3 centriole elongation regulator). [provided by Alliance of Genome Resources, Apr 2022]
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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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
  
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
  

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, ENSRNOT00000115462.1
    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

  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

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

RNA

  1. XR_005502031.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version

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