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

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: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (74012718..74171002, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (73942048..74100346, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (73723763..73882047, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
Title: Evolutionary conservation of centriole rotational asymmetry in the human centrosome.
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.
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.
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.
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.
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.
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.

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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	Compare labs

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

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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

D3S2776E (e-PCR)
- UniSTS:150817

RH36451 (e-PCR)
- UniSTS:45869

WI-18676 (e-PCR)
- UniSTS:77363

RH119059 (e-PCR)
- UniSTS:138303

RH66358 (e-PCR)
- UniSTS:66386

A008X42 (e-PCR)
- UniSTS:1161

RH26881 (e-PCR)
- UniSTS:90253

D11S944E (e-PCR)
- UniSTS:63898

D11S3588 (e-PCR)
- UniSTS:152827

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	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

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

NG_041791.1 RefSeqGene

Range

5018..163302

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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