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 |
|---|---|---|---|
| RS886059182 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS949606263 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1008514114 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1022325907 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS1044009143 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1064793618 | Health Risk | Pathogenic | — |
| RS1131691659 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS1158349299 | Health Risk | Pathogenic | Inborn genetic diseases, Joubert syndrome, Meckel-Gruber syndrome |
| RS116358011 | Health Risk | Pathogenic | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS1170204399 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1171520322 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS118204053 | Health Risk | Pathogenic | Joubert syndrome 9, Inborn genetic diseases, Joubert syndrome |
| RS1189294231 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1191597081 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1278804341 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1288358527 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1312758061 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1338289178 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Retinal dystrophy |
| RS1338343514 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS1340940841 | Health Risk | Pathogenic | Meckel syndrome, type 6, Meckel syndrome |
| RS1443329727 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1445978091 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1447155539 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1449972974 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1469975894 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1473532901 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1553845300 | Health Risk | Pathogenic | COACH syndrome 1, COACH syndrome 1 |
| RS1553845302 | Health Risk | Pathogenic | — |
| RS1553845917 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560166488 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560187743 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560188288 | Health Risk | Pathogenic | — |
| RS1560196405 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560196436 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560199860 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1577340510 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1577396376 | Health Risk | Pathogenic | Joubert syndrome 9, Joubert syndrome 9 |
| RS1716487985 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1716492953 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1716552711 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1716561509 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1716895762 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1718392791 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS1718406119 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1719092280 | Health Risk | Pathogenic | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS1719937487 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1719950579 | Health Risk | Pathogenic | Encephalocele, Polycystic kidney disease, Joubert syndrome |
| RS1720921490 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1720997777 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1721481933 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |