CCDC8
Sign in to saveAlso known as 3M3, PPP1R20, p90, coiled-coil domain containing 8
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
Gene data
CCDC8- Name
- coiled-coil domain containing 8 subunit of 3M complex
- Type
- protein-coding
- Position
- 46,410,329–46,413,564 (−)
- Aliases
- 3M3, PPP1R20, p90
- Ensembl
- ENSG00000169515
- RefSeq RNA
- NM_032040.5
- RefSeq protein
- NP_114429.2
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
coiled-coil domain containing 8 subunit of 3M complex
- Symbol
- CCDC8
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:46,410,329-46,413,564
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 49977
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/83987
- genomic end
- 46413564
- genomic start
- 46410329
- chromosome
- human chromosome 19
- cytogenetic location
- 19q13.32
- genetic association
- 3-M syndrome
- expressed in
- trachea
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical relevance
- References
- Further reading
- External links
Coiled-coil domain containing 8 is a protein that in humans is encoded by the CCDC8 gene.
== Function ==
Excerpted from Wikipedia’s “CCDC8” article, available under the CC BY-SA 4.0 licence.