CCDC8 (coiled-coil domain containing 8)

2017-10-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
3M3,PPP1R20,p90

Other Information

Locus ID:

NCBI: 83987
MIM: 614145
HGNC: 25367
Ensembl: ENSG00000169515

Variants:

dbSNP: 83987
ClinVar: 83987
TCGA: ENSG00000169515
COSMIC: CCDC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169515ENST00000307522Q9H0W5

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
332582892021A rare cause of syndromic short stature: 3M syndrome in three families.4
332582892021A rare cause of syndromic short stature: 3M syndrome in three families.4
326514372020Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation.4
326514372020Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation.4
287009992017Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China.18
287009992017Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China.18
273429102016Coiled-coil domain-containing protein 8 inhibits the invasiveness and migration of non-small cell lung cancer cells.13
273429102016Coiled-coil domain-containing protein 8 inhibits the invasiveness and migration of non-small cell lung cancer cells.13
247116432014Identifying biological pathways that underlie primordial short stature using network analysis.20
247936952014The 3M complex maintains microtubule and genome integrity.34
247116432014Identifying biological pathways that underlie primordial short stature using network analysis.20
247936952014The 3M complex maintains microtubule and genome integrity.34
230186782012Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.23
230186782012Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.23
217370582011Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.51

Citation

Dessen P

CCDC8 (coiled-coil domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57119/ccdc8-(coiled-coil-domain-containing-8)