CC2D2A Chromosome 4
Coiled-coil and C2 domain containing 2A
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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 |
|---|---|---|---|
| RS1010285962 | Health Risk | Conflicting classifications of pathogenicity | COACH syndrome 1, Meckel-Gruber syndrome, Joubert syndrome |
| RS1016233369 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS1052251029 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS1064794798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS113065116 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS113371687 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS114387988 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS115924432 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS116198081 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS1167453314 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS117667651 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS118204051 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, COACH syndrome 1, Meckel-Gruber syndrome |
| RS1289826078 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1300362447 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS1305181844 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS137878385 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS137919504 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1379770755 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS1410133502 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS143947747 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS144439937 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS1445614932 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |
| RS1453265480 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS145443888 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS146843542 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS147499316 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS148194457 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Inborn genetic diseases |
| RS150093365 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS1560171734 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS1560177950 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, CC2D2A-related disorder |
| RS16892134 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS1714586913 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Ciliopathy |
| RS1717568150 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 9 |
| RS1720848250 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS181612746 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS182369056 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS182372139 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel-Gruber syndrome |
| RS183968785 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS184351317 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS185072004 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Meckel-Gruber syndrome |
| RS186264635 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS186486235 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Meckel syndrome |
| RS187003641 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Meckel syndrome, type 6 |
| RS188018643 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Joubert syndrome 9 |
| RS188891842 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 9, Meckel syndrome, type 6 |
| RS190698163 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, CC2D2A-related disorder |
| RS199688524 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 6, Joubert syndrome 9 |
| RS199695154 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Meckel syndrome |
| RS199768782 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 1 |
| RS199861496 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome |