U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    C2CD3 C2 domain containing 3 centriole elongation regulator [ Homo sapiens (human) ]

    Gene ID: 26005, updated on 10-Dec-2024

    Summary

    Official Symbol
    C2CD3provided by HGNC
    Official Full Name
    C2 domain containing 3 centriole elongation regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:24564
    See related
    Ensembl:ENSG00000168014 MIM:615944; AllianceGenome:HGNC:24564
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OFD14
    Summary
    This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Ubiquitous expression in testis (RPKM 5.6), thyroid (RPKM 3.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C2CD3 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74012718..74171002, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73942048..74100346, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73723763..73882047, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 91 member A1 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:73715060-73716259 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73719425-73719605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73719739-73720378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5249 Neighboring gene uncoupling protein 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:73747696-73748895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5250 Neighboring gene NANOG hESC enhancer GRCh37_chr11:73808354-73808901 Neighboring gene Sharpr-MPRA regulatory region 9619 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:73881282-73882205 and GRCh37_chr11:73882206-73883128 Neighboring gene protein phosphatase methylesterase 1 Neighboring gene uncharacterized LOC105369383 Neighboring gene RNA, 5S ribosomal pseudogene 343

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that C2CD3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with C2CD3 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34770, DKFZp586P0123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    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 cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural plate axis specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    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 centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    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
    C2 calcium dependent domain containing 3

    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.

    Genomic

    1. NG_041791.1 RefSeqGene

      Range
      5018..163302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286577.2NP_001273506.1  C2 domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001273506.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AP002392, AP003717
      Consensus CDS
      CCDS66167.1
      UniProtKB/Swiss-Prot
      C9JR55, E2QRD1, Q2NLE1, Q3C1U9, Q4AC94, Q6ZU92, Q8IYM4, Q8NB87, Q8NDH7, Q9Y4M2
      UniProtKB/TrEMBL
      A0A7P0Z475
      Related
      ENSP00000334379.7, ENST00000334126.12
      Conserved Domains (2) summary
      cd00030
      Location:16791747
      C2; C2 domain
      cd08683
      Location:11991341
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins
    2. NM_015531.6NP_056346.3  C2 domain-containing protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB231763, AB231764, AK091397, BC110508, BM460060, CD369754, DB068715, DB078025
      Consensus CDS
      CCDS31636.1
      UniProtKB/TrEMBL
      H7BZB4
      Related
      ENSP00000323339.7, ENST00000313663.11
      Conserved Domains (2) summary
      cd00030
      Location:16791747
      C2; C2 domain
      cd08683
      Location:11991341
      C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74012718..74171002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73942048..74100346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)