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

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

    Summary

    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
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    C2 domain-containing protein 3
    Names
    protein hearty

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001017985.3NP_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:16601728
      C2; C2 domain
      cd08683
      Location:11831325
      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_030242644.2XP_030098504.1  C2 domain-containing protein 3 isoform X2

      UniProtKB/TrEMBL
      E9Q526
      Related
      ENSMUSP00000095859.5, ENSMUST00000098259.11
      Conserved Domains (2) summary
      cd08683
      Location:11831325
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:16601728
      C2; C2 domain
    2. XM_030242643.2XP_030098503.1  C2 domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      E9Q526
      Conserved Domains (2) summary
      cd08683
      Location:9771119
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:14541522
      C2; C2 domain
    3. XM_006507908.5XP_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:9771119
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:14541522
      C2; C2 domain
    4. XM_030242646.2XP_030098506.1  C2 domain-containing protein 3 isoform X3

      Conserved Domains (2) summary
      cd08683
      Location:720862
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:11971265
      C2; C2 domain
    5. XM_011241827.4XP_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:9771119
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:14541522
      C2; C2 domain
    6. XM_030242645.2XP_030098505.1  C2 domain-containing protein 3 isoform X3

      Conserved Domains (2) summary
      cd08683
      Location:720862
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
      pfam00168
      Location:11971265
      C2; C2 domain

    RNA

    1. XR_003946487.2 RNA Sequence