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 |
|---|---|---|---|
| RS1721483506 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS200407856 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS201502401 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS2108970120 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS2474909050 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS2474921047 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS2474921234 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS2475033368 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS2475051413 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS2475092773 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Retinitis pigmentosa 93 |
| RS370880399 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, COACH syndrome 1, Meckel syndrome |
| RS377177061 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Retinal dystrophy |
| RS386833745 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS386833748 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, CC2D2A-related disorder |
| RS386833752 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS386833765 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS529437224 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS754586025 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS754985710 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS757208121 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 1 |
| RS759192059 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS760676442 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Neurodevelopmental disorder |
| RS761213221 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Retinitis pigmentosa 93 |
| RS764719093 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, COACH syndrome 1, Meckel syndrome |
| RS767783281 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Retinitis pigmentosa 93 |
| RS773881370 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS775292940 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS779823379 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS780190318 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Meckel-Gruber syndrome, Joubert syndrome |
| RS781252161 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS797045437 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225168 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225173 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS863225176 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS863225179 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS886044295 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Retinitis pigmentosa 93 |
| RS982352950 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |