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

Gene ID: 26005, updated on 8-Jul-2021

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
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
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Genomic context

See C2CD3 in Genome Data Viewer
Location:
11q13.4
Exon count:
34
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (74012718..74171002, complement)
105.20201022 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 uncoupling protein 3 Neighboring gene Sharpr-MPRA regulatory region 9619 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: 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

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

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
PubMed 
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
PubMed 
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 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
PubMed 
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
PubMed 
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
 

General protein information

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
    5001..163306
    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
    Q4AC94
    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/Swiss-Prot
    Q4AC94
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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