CCDC8

CCDC8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4LG6
Identifiers
Aliases	CCDC8, 3M3, PPP1R20, p90, coiled-coil domain containing 8
External IDs	OMIM: 614145 MGI: 3612184 HomoloGene: 49977 GeneCards: CCDC8
Gene location (Human)
Chr.	Chromosome 19 (human)
End	46,413,564 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	16,731,441 bp
RNA expression pattern
	Top expressed in
	vena cava; ; right ventricle; ; saphenous vein; ; renal medulla; ; right uterine tube; ; cardia; ; tibia; ; trachea; ; ventral tegmental area; ; superior surface of tongue;
	Top expressed in
	interventricular septum; ; hand; ; atrium; ; cumulus cell; ; left lung lobe; ; vas deferens; ; endocardial cushion; ; abdominal wall; ; dermis; ; maxillary prominence;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	microtubule organizing center; plasma membrane; 3M complex; cytoskeleton; cytoplasm; centrosome; nucleus; cytosol;
Biological process	regulation of mitotic nuclear division; negative regulation of phosphatase activity; microtubule cytoskeleton organization; post-translational protein modification;
	Sources:Amigo / QuickGO
Orthologs
	83987
	434130
	ENSG00000169515
	ENSMUSG00000041117
	Q9H0W5
	D3YZV8
	NM_032040
	NM_001101535
	NP_114429
	NP_001095005
	Wikidata
View/Edit Human	View/Edit Mouse

Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.^[5]

Function[edit]

This gene encodes a coiled coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1.

Clinical relevance[edit]

Mutations in this gene have been shown to cause 3-M syndrome.^[6]

References[edit]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041117 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Coiled-coil domain containing 8". Retrieved 2011-12-30.
^ Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

External links[edit]

GeneReviews/NIH/NCBI/UW entry on 3-M syndrome
Human CCDC8 genome location and CCDC8 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041117 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Coiled-coil domain containing 8". Retrieved 2011-12-30.

[pmid21737058-6] Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (July 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth". Am. J. Hum. Genet. 89 (1): 148–53. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.

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CCDC8

Function[edit]

Clinical relevance[edit]

References[edit]

Further reading[edit]

External links[edit]