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
381732192024CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.0
381732192024CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.0
367689382023Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.3
373179352023Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.0
378990262023A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.0
367689382023Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.3
373179352023Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.0
378990262023A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.0
340922572021Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.5
340922572021Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.5
315116122020Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing.16
319490462020DAPLE protein inhibits nucleotide exchange on Gα(s) and Gα(q) via the same motif that activates Gαi.12
328886472020The Daple-CK1ε complex regulates Dvl2 phosphorylation and canonical Wnt signaling.2
315116122020Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing.16
319490462020DAPLE protein inhibits nucleotide exchange on Gα(s) and Gα(q) via the same motif that activates Gαi.12

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-(coiled-coil-domain-containing-88c)