CCDC8

GENE INFORMATION

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Gene name

CCDC8 (HGNC Symbol)

Synonyms

3M3, DKFZp564K0322, PPP1R20

Description

Coiled-coil domain containing 8 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

19

Cytoband

q13.32

Chromosome location (bp)

46913629 - 46916841

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169515 (version 75.37)

Entrez gene

83987

UniProt

Q9H0W5 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H0W5

Antibodypedia

CCDC8 antibodies
 

PROTEIN VIEW

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CCDC8-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CCDC8-001 ENSP00000303158
ENST00000307522
Q9H0W5
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