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

Gene ID: 26005, updated on 27-Nov-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Cortés CR, et al. Sci Rep, 2016 Apr 20. PMID 27094867, Free PMC Article
  2. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. Boczek NJ, et al. Eur J Hum Genet, 2018 Dec. PMID 30097616, Free PMC Article
  3. SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans. von Tobel L, et al. PLoS Genet, 2014 Nov. PMID 25412110, Free PMC Article
  4. Search for chromosome rearrangements: new approaches toward discovery of novel translocations in head and neck squamous cell carcinoma. Wang VW, et al. Head Neck, 2013 Jun. PMID 22807096
  5. Evolutionary conservation of centriole rotational asymmetry in the human centrosome. Gaudin N, et al. Elife, 2022 Mar 23. PMID 35319462, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
    Title: Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
  2. CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
    Title: CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
  3. Biallelic C2CD3 variants lead to a broad spectrum of ciliopathy phenotypes.
    Title: Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
  4. Talpid3, C2CD3, and OFD1 differentially regulate the assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19 module, centriolar satellites, and actin networks.
    Title: A distal centriolar protein network controls organelle maturation and asymmetry.
  5. Our data provide further evidence that mutations in C2CD3 cause a ciliopathy in humans and expand the previously reported phenotype resulting from C2CD3 dysfunction.
    Title: Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
  6. we uncover that SAS-1 is related to C2CD3, a protein required for complete centriole formation in human cells and affected in a type of oral-facial-digital (OFD) syndrome
    Title: SAS-1 is a C2 domain protein critical for centriole integrity in C. elegans.
  7. Loss of C2CD3 results in short centrioles without subdistal and distal appendages.
    Title: The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Orofaciodigital syndrome type 14
MedGen: C4706604 OMIM: 615948 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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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

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

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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.

Genomic

  1. NG_041791.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001286577.2 → NP_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:1679 → 1747
    C2; C2 domain
    cd08683
    Location:1199 → 1341
    C2_C2cd3; C2 domain found in C2 calcium-dependent domain containing 3 (C2cd3) proteins

  2. NM_015531.6 → NP_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:1679 → 1747
    C2; C2 domain
    cd08683
    Location:1199 → 1341
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4AC94.4 GenPept UniProtKB/Swiss-Prot:Q4AC94

Gene LinkOut

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