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Gene : CCDC8 Homo sapiens

Name  ? coiled-coil domain containing 8 Cytological Location  19q13.32
Brief Description  coiled-coil domain containing 8
Description  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. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
  • synonyms:
  • NM_032040,
  • protein phosphatase 1, regulatory subunit 20,
  • OTTHUMG00000162348,
  • PPP1R20,
  • HGNC:25367,
  • DKFZp564K0322,
  • 3M3,
  • PPP1R20,
  • CCDC8,
  • BC025243,
  • uc002pep.4,
  • 3M3,
  • p90
  • identifiers:
  • 83987,
  • ENSG00000169515,
  • CCDC8

Genome feature

Region: gene ? Length: 3236  
Location: 19:46410329-46413564 reverse strand Cyto location: 19q13.32

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

17 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results