CCDC8

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

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; OMA:CCDC8 - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 46,410,329 bp[1] End 46,413,564 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 A2 Start 16,726,633 bp[2] End 16,731,441 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cardiac muscle tissue of right atrium myocardium of left ventricle vena cava right ventricle saphenous vein renal medulla right uterine tube cardia tibia trachea Top expressed in interventricular septum hand Gonadal ridge atrium cumulus cell mandibular prominence left lung lobe ventricular zone vas deferens endocardial cushion More reference expression data BioGPS 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 Species Human Mouse Entrez 83987 434130 Ensembl ENSG00000169515 ENSMUSG00000041117 UniProt Q9H0W5 D3YZV8 RefSeq (mRNA) NM_032040 NM_001101535 RefSeq (protein) NP_114429 NP_001095005 Location (UCSC) Chr 19: 46.41 – 46.41 Mb Chr 7: 16.73 – 16.73 Mb PubMed search [3] [4]
Wikidata
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Function

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

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