CC2D2A Chromosome 4
Coiled-coil and C2 domain containing 2A
Upload your DNA to see your personal genotypes for variants in CC2D2A.
What This Gene Does
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
4p15.32
Ensembl
ENSG00000048342
Associated Conditions (35)
COACH syndrome 1
Meckel-Gruber syndrome
Joubert syndrome
Meckel syndrome
type 6
Joubert syndrome 9
COACH syndrome 2
Retinitis pigmentosa 93
Inborn genetic diseases
CC2D2A-related disorder
Congenital heart disease
Hepatocellular carcinoma
Microcephaly
Intellectual disability
Ciliopathy
Joubert syndrome 1
Retinal dystrophy
Optic atrophy
Joubert syndrome 9/15
digenic
+15 more conditions
Key Variants
RS1010285962
Conflicting classifications of pathogenicity
COACH syndrome 1, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS1016233369
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9
Health Risk
RS1052251029
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS1064794798
Conflicting classifications of pathogenicity
Health Risk
RS113065116
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases
Health Risk
RS113371687
Conflicting classifications of pathogenicity
Joubert syndrome 9, Meckel syndrome, type 6
Health Risk
RS114387988
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS115924432
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder
Health Risk
RS116198081
Conflicting classifications of pathogenicity
Meckel syndrome, type 6, Joubert syndrome 9
Health Risk
RS1167453314
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS117667651
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome
Health Risk
RS118204051
Conflicting classifications of pathogenicity
Joubert syndrome 9, COACH syndrome 1, Meckel-Gruber syndrome
Health Risk
All Variants (437)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2475148089 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475148144 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2475156660 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2475157096 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475157352 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475157423 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2475163025 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS386833749 | Health Risk | Pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS386833751 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS386833757 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS386833759 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS386833760 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS386833762 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome |
| RS386833763 | Health Risk | Pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS563610095 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, COACH syndrome 2 |
| RS746415983 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS754687282 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS757807971 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome |
| RS758036385 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS762998472 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS763735590 | Health Risk | Pathogenic | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS764788925 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS764874938 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS772110399 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS773740057 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS776159564 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS779437509 | Health Risk | Pathogenic | — |
| RS780814559 | Health Risk | Pathogenic | — |
| RS781206278 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome |
| RS786205568 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS794729226 | Health Risk | Pathogenic | Joubert syndrome 1, Joubert syndrome, Meckel-Gruber syndrome |
| RS797044636 | Health Risk | Pathogenic | — |
| RS863225171 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225172 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS863225174 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS863225178 | Health Risk | Pathogenic | Joubert syndrome 9, Neurodevelopmental disorder, Joubert syndrome 9 |
| RS890421496 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS980305935 | Health Risk | Pathogenic | Encephalocele, Polycystic kidney disease, Joubert syndrome |
| RS1179041639 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1271825377 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome |
| RS1313708855 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS1367275342 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1433294475 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS145678228 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of prenatal development or birth, Meckel-Gruber syndrome, Joubert syndrome |
| RS1471484901 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1553827236 | Health Risk | Pathogenic/Likely pathogenic | 7 conditions, Joubert syndrome 9, 7 conditions |
| RS1560166511 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS1560180188 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1577372471 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1577406415 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |