CCDC88C (coiled-coil domain containing 88C)

2006-12-01  

Identity

HGNC
CCDC88C
LOCATION
14q32.11
LOCUSID
440193
ALIAS
DAPLE,HKRP2,HYC1,KIAA1509,SCA40
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 440193
MIM: 611204
HGNC: 19967
Ensembl: ENSG00000015133

Variants:

dbSNP: 440193
ClinVar: 440193
TCGA: ENSG00000015133
COSMIC: CCDC88C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000015133ENST00000331194A0A0A0MR69
ENSG00000015133ENST00000389856Q0P665
ENSG00000015133ENST00000389857Q9P219
ENSG00000015133ENST00000553403G3V3S0
ENSG00000015133ENST00000556726H0YJX5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Negative regulation of TCF-dependent signaling by DVL-interacting proteinsREACTOMER-HSA-5368598

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
247724792014Identification and functional characterization of imatinib-sensitive DTD1-PDGFRB and CCDC88C-PDGFRB fusion genes in eosinophilia-associated myeloid/lymphoid neoplasms.3
312688312019DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.3
230428092012Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.0
250628472014A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.0
250628472014A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.0
261262662015Daple is a novel non-receptor GEF required for trimeric G protein activation in Wnt signaling.0
265776062016Role for Daple in non-canonical Wnt signaling during gastric cancer invasion and metastasis.0
290213382017A Daple-Akt feed-forward loop enhances noncanonical Wnt signals by compartmentalizing β-catenin.0
293413972018Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.0
303986762019Familial ataxia, tremor, and dementia in a polish family with a novel mutation in the CCDC88C gene.0

Citation

Dessen P

CCDC88C (coiled-coil domain containing 88C)

Atlas Genet Cytogenet Oncol Haematol. 2006-12-01

Online version: http://atlasgeneticsoncology.org/gene/42896/ccdc88c