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C2cd3 C2 calcium-dependent domain containing 3 [ Mus musculus (house mouse) ]

Gene ID: 277939, updated on 27-Nov-2024

Summary

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Official Symbol
C2cd3provided by MGI
Official Full Name
C2 calcium-dependent domain containing 3provided by MGI
Primary source
MGI:MGI:2142166
See related
Ensembl:ENSMUSG00000047248 AllianceGenome:MGI:2142166
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Involved in centriole elongation. Acts upstream of or within several processes, including chordate embryonic development; embryonic morphogenesis; and protein localization to centrosome. Located in centriolar satellite; centriole; and ciliary basal body. Is expressed in several structures, including alimentary system mesenchyme; brain; face; oral epithelium; and perichondrium. 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, Nov 2024]
Expression
Ubiquitous expression in testis adult (RPKM 8.4), thymus adult (RPKM 7.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See C2cd3 in Genome Data Viewer
Location:
7 E2; 7 54.35 cM
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (100021440..100119366)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (100372229..100470159)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III Neighboring gene protein phosphatase methylesterase 1 Neighboring gene STARR-positive B cell enhancer ABC_E2243 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:107520817-107520926 Neighboring gene STARR-seq mESC enhancer starr_19668 Neighboring gene predicted gene 10603 Neighboring gene STARR-positive B cell enhancer mm9_chr7:107641658-107641958 Neighboring gene STARR-positive B cell enhancer ABC_E2244 Neighboring gene uncoupling protein 3 (mitochondrial, proton carrier) Neighboring gene uncoupling protein 2 (mitochondrial, proton carrier)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The ciliary protein C2cd3 is required for mandibular musculoskeletal tissue patterning. Brooks EC, et al. Differentiation, 2024 Jul-Aug. PMID 38810379,
  2. Using genomewide mutagenesis screens to identify the genes required for neural tube closure in the mouse. Zohn IE, et al. Birth Defects Res A Clin Mol Teratol, 2005 Sep. PMID 15971254
  3. 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
  4. Centriolar Protein C2cd3 Is Required for Craniofacial Development. Chang CF, et al. Front Cell Dev Biol, 2021. PMID 34211969, Free PMC Article
  5. C2cd3 is required for cilia formation and Hedgehog signaling in mouse. Hoover AN, et al. Development, 2008 Dec. PMID 19004860, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centriole elongation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in centriole elongation IDA
Inferred from Direct Assay
more info
 PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic digit morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within heart looping IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural plate axis specification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neural tube development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in non-motile cilium assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in non-motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within pattern specification process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within protein localization to centrosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein localization to centrosome ISO
Inferred from Sequence Orthology
more info
  
involved_in protein localization to centrosome ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within protein processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of smoothened signaling pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 PubMed 
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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in centriole ISO
Inferred from Sequence Orthology
more info
  
located_in centriole ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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
protein hearty

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_001017985.3 → NP_001017985.2  C2 domain-containing protein 3

    See identical proteins and their annotated locations for NP_001017985.2

    Status: VALIDATED

    Source sequence(s)
    AC117215, AC122269, AC151839
    Consensus CDS
    CCDS57568.1
    UniProtKB/Swiss-Prot
    E9QL99, Q3UFQ3, Q52KB6, Q80V48, Q8BXE5
    UniProtKB/TrEMBL
    E9Q526
    Related
    ENSMUSP00000062637.8, ENSMUST00000051777.15
    Conserved Domains (2) summary
    cd00030
    Location:1660 → 1728
    C2; C2 domain
    cd08683
    Location:1183 → 1325
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    100021440..100119366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030242644.2 → XP_030098504.1  C2 domain-containing protein 3 isoform X2

    UniProtKB/TrEMBL
    E9Q526
    Related
    ENSMUSP00000095859.5, ENSMUST00000098259.11
    Conserved Domains (2) summary
    cd08683
    Location:1183 → 1325
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1660 → 1728
    C2; C2 domain

  2. XM_030242643.2 → XP_030098503.1  C2 domain-containing protein 3 isoform X1

    UniProtKB/TrEMBL
    E9Q526
    Conserved Domains (2) summary
    cd08683
    Location:977 → 1119
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1454 → 1522
    C2; C2 domain

  3. XM_006507908.5 → XP_006507971.1  C2 domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_006507971.1

    UniProtKB/TrEMBL
    E9Q526
    Conserved Domains (2) summary
    cd08683
    Location:977 → 1119
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1454 → 1522
    C2; C2 domain

  4. XM_030242646.2 → XP_030098506.1  C2 domain-containing protein 3 isoform X3

    Conserved Domains (2) summary
    cd08683
    Location:720 → 862
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1197 → 1265
    C2; C2 domain

  5. XM_011241827.4 → XP_011240129.1  C2 domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011240129.1

    UniProtKB/TrEMBL
    E9Q526
    Conserved Domains (2) summary
    cd08683
    Location:977 → 1119
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1454 → 1522
    C2; C2 domain

  6. XM_030242645.2 → XP_030098505.1  C2 domain-containing protein 3 isoform X3

    Conserved Domains (2) summary
    cd08683
    Location:720 → 862
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    pfam00168
    Location:1197 → 1265
    C2; C2 domain

RNA

  1. XR_003946487.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q52KB6.3 GenPept UniProtKB/Swiss-Prot:Q52KB6

Gene LinkOut

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