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 |
|---|---|---|---|
| RS1419232670 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders |
| RS1472068665 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1484983836 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1487693460 | Health Risk | Likely pathogenic | — |
| RS1553842818 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1553845569 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1560184664 | Health Risk | Likely pathogenic | COACH syndrome 1, Joubert syndrome 9, Meckel syndrome |
| RS1577309042 | Health Risk | Likely pathogenic | — |
| RS1716841949 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1716886666 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1717586613 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, COACH syndrome 2 |
| RS1718163724 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1719930798 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1719933188 | Health Risk | Likely pathogenic | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS1720595936 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS200707391 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS2108998253 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2109023958 | Health Risk | Likely pathogenic | — |
| RS2109029810 | Health Risk | Likely pathogenic | Anencephaly, Polydactyly, Renal cyst |
| RS2109061743 | Health Risk | Likely pathogenic | — |
| RS2109070129 | Health Risk | Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS2109070604 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2474823496 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2474921160 | Health Risk | Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS2474955144 | Health Risk | Likely pathogenic | CC2D2A-related disorder, CC2D2A-related disorder |
| RS2474955286 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS2474965141 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2474978321 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475019623 | Health Risk | Likely pathogenic | — |
| RS2475019890 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475046362 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS2475061426 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475092769 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475127881 | Health Risk | Likely pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS2475128123 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS2475163508 | Health Risk | Likely pathogenic | — |
| RS376561287 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS386833746 | Health Risk | Likely pathogenic | Meckel syndrome, type 6, Meckel syndrome |
| RS386833747 | Health Risk | Likely pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS386833753 | Health Risk | Likely pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS386833754 | Health Risk | Likely pathogenic | Meckel syndrome, type 6, Meckel syndrome |
| RS386833756 | Health Risk | Likely pathogenic | Meckel syndrome, type 6, Meckel syndrome |
| RS746409565 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS749583615 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS754221308 | Health Risk | Likely pathogenic | Joubert syndrome 9, Joubert syndrome, Meckel-Gruber syndrome |
| RS763425007 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS764806176 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS765072583 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS770219362 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS867390302 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |