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

Gene ID: 498386, updated on 10-Oct-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 animal organ development; cilium assembly; 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; and intellectual disability. Orthologous to human CC2D2A (coiled-coil and C2 domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]
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 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
  
acts_upstream_of_or_within non-motile cilium assembly ISO
Inferred from Sequence Orthology
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
  
Component Evidence Code Pubs
part_of MKS complex ISO
Inferred from Sequence Orthology
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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