CCDC88C Chromosome 14
Coiled-coil and HOOK domain protein 88C
Upload your DNA to see your personal genotypes for variants in CCDC88C.
What This Gene Does
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
HOOK related protein family
Locus Type
gene with protein product
Location
14q32.11-q32.12
Ensembl
ENSG00000015133
Associated Conditions (19)
Inborn genetic diseases
Hydrocephalus
nonsyndromic
autosomal recessive 1
Spinocerebellar ataxia type 40
CCDC88C-related disorder
Intellectual disability
Epilepsy
Clear cell carcinoma of kidney
Colorectal cancer
Lung cancer
Cervical cancer
Familial cancer of breast
Uveal melanoma
Thyroid cancer
nonmedullary
1
Spastic ataxia
Congenital hydrocephalus
Key Variants
RS115510695
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1285918522
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1366859752
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1396400378
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 1
Health Risk
RS142295786
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 40, Hydrocephalus, Inborn genetic diseases
Health Risk
RS142539336
Conflicting classifications of pathogenicity
Inborn genetic diseases, CCDC88C-related disorder, Intellectual disability
Health Risk
RS1440642205
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 1
Health Risk
RS151228192
Conflicting classifications of pathogenicity
CCDC88C-related disorder, CCDC88C-related disorder
Health Risk
RS1555413299
Conflicting classifications of pathogenicity
Health Risk
RS183312399
Conflicting classifications of pathogenicity
Hydrocephalus, nonsyndromic, autosomal recessive 1
Health Risk
RS183319966
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS185401166
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (126)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1324937983 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS1409621336 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS1555422946 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS1890903910 | Health Risk | Likely pathogenic | — |
| RS1892571828 | Health Risk | Likely pathogenic | — |
| RS2139788894 | Health Risk | Likely pathogenic | Spastic ataxia, Spastic ataxia |
| RS2544256678 | Health Risk | Likely pathogenic | — |
| RS2544268184 | Health Risk | Likely pathogenic | — |
| RS2544313833 | Health Risk | Likely pathogenic | — |
| RS2544335257 | Health Risk | Likely pathogenic | — |
| RS2544336575 | Health Risk | Likely pathogenic | — |
| RS2544361047 | Health Risk | Likely pathogenic | CCDC88C-related disorder, CCDC88C-related disorder |
| RS2544361669 | Health Risk | Likely pathogenic | — |
| RS2544651188 | Health Risk | Likely pathogenic | — |
| RS387907321 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS562306188 | Health Risk | Likely pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS786205489 | Health Risk | Likely pathogenic | — |
| RS867122896 | Health Risk | Likely pathogenic | — |
| RS956104232 | Health Risk | Likely pathogenic | Spinocerebellar ataxia type 40, Spinocerebellar ataxia type 40 |
| RS1222992251 | Health Risk | Pathogenic | — |
| RS1267399794 | Health Risk | Pathogenic | — |
| RS1287488544 | Health Risk | Pathogenic | — |
| RS1393804814 | Health Risk | Pathogenic | — |
| RS1567043467 | Health Risk | Pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS1886637325 | Health Risk | Pathogenic | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
| RS1891980457 | Health Risk | Pathogenic | — |
| RS2139903566 | Health Risk | Pathogenic | — |
| RS2544237822 | Health Risk | Pathogenic | — |
| RS2544238668 | Health Risk | Pathogenic | — |
| RS2544238989 | Health Risk | Pathogenic | — |
| RS2544239040 | Health Risk | Pathogenic | — |
| RS2544239154 | Health Risk | Pathogenic | — |
| RS2544239201 | Health Risk | Pathogenic | — |
| RS2544240114 | Health Risk | Pathogenic | — |
| RS2544240482 | Health Risk | Pathogenic | — |
| RS2544240590 | Health Risk | Pathogenic | — |
| RS2544240615 | Health Risk | Pathogenic | — |
| RS2544240888 | Health Risk | Pathogenic | — |
| RS2544240988 | Health Risk | Pathogenic | — |
| RS2544252553 | Health Risk | Pathogenic | — |
| RS2544268813 | Health Risk | Pathogenic | — |
| RS2544289562 | Health Risk | Pathogenic | — |
| RS2544325280 | Health Risk | Pathogenic | — |
| RS2544325597 | Health Risk | Pathogenic | — |
| RS2544335297 | Health Risk | Pathogenic | — |
| RS2544352172 | Health Risk | Pathogenic | — |
| RS2544353624 | Health Risk | Pathogenic | — |
| RS2544361343 | Health Risk | Pathogenic | — |
| RS2544365573 | Health Risk | Pathogenic | — |
| RS2544366388 | Health Risk | Pathogenic | — |