CCDC8 (coiled-coil domain containing 8)

2017-10-01  

Identity

HGNC
CCDC8
LOCATION
19q13.32
LOCUSID
83987
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
217370582011Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.38
220840662011Differential effects on p53-mediated cell cycle arrest vs. apoptosis by p90.20
247936952014The 3M complex maintains microtubule and genome integrity.18
221565402011The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.16
230186782012Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.16
247116432014Identifying biological pathways that underlie primordial short stature using network analysis.15
287009992017Genome-Wide Association Study of MKI67 Expression and its Clinical Implications in HBV-Related Hepatocellular Carcinoma in Southern China.10
273429102016Coiled-coil domain-containing protein 8 inhibits the invasiveness and migration of non-small cell lung cancer cells.6

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)