Identity
HGNC
LOCATION
14q32.11
LOCUSID
ALIAS
DAPLE,HKRP2,HYC1,KIAA1509,SCA40
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 440193
MIM: 611204
HGNC: 19967
Ensembl: ENSG00000015133
Variants:
dbSNP: 440193
ClinVar: 440193
TCGA: ENSG00000015133
COSMIC: CCDC88C
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38173219 | 2024 | CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. | 0 |
| 38173219 | 2024 | CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation. | 0 |
| 36768938 | 2023 | Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene. | 3 |
| 37317935 | 2023 | Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia. | 0 |
| 37899026 | 2023 | A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. | 0 |
| 36768938 | 2023 | Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene. | 3 |
| 37317935 | 2023 | Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia. | 0 |
| 37899026 | 2023 | A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia. | 0 |
| 34092257 | 2021 | Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. | 5 |
| 34092257 | 2021 | Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants. | 5 |
| 31511612 | 2020 | Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing. | 16 |
| 31949046 | 2020 | DAPLE protein inhibits nucleotide exchange on Gα(s) and Gα(q) via the same motif that activates Gαi. | 12 |
| 32888647 | 2020 | The Daple-CK1ε complex regulates Dvl2 phosphorylation and canonical Wnt signaling. | 2 |
| 31511612 | 2020 | Fusion driven JMML: a novel CCDC88C-FLT3 fusion responsive to sorafenib identified by RNA sequencing. | 16 |
| 31949046 | 2020 | DAPLE 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)
