CCDC8

Protein-coding gene in humans
CCDC8
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

4LG6

Identifiers
AliasesCCDC8, 3M3, PPP1R20, p90, coiled-coil domain containing 8
External IDsOMIM: 614145; MGI: 3612184; HomoloGene: 49977; GeneCards: CCDC8; OMA:CCDC8 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for CCDC8
Genomic location for CCDC8
Band19q13.32Start46,410,329 bp[1]
End46,413,564 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for CCDC8
Genomic location for CCDC8
Band7|7 A2Start16,726,633 bp[2]
End16,731,441 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 7: 16.73 – 16.73 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169515 – Ensembl, May 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: Coiled-coil domain containing 8". Retrieved 2011-12-30.
  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.

Further reading

  • Hanson, D.; Murray, P. G.; O'Sullivan, J.; Urquhart, J.; Daly, S.; Bhaskar, S. S.; Biesecker, L. G.; Skae, M.; Smith, C.; Cole, T.; Kirk, J.; Chandler, K.; Kingston, H.; Donnai, D.; Clayton, P. E.; Black, G. C. M. (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". The American Journal of Human Genetics. 89 (1): 148–153. doi:10.1016/j.ajhg.2011.05.028. PMC 3135816. PMID 21737058.
  • 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.


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