CEP290 Chromosome 12
Centrosomal protein 290
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What This Gene Does
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
MKS complex
Locus Type
gene with protein product
Location
12q21.32
Ensembl
ENSG00000198707
Associated Conditions (61)
Nephronophthisis
Meckel-Gruber syndrome
Joubert syndrome
Senior-Loken syndrome 6
Joubert syndrome 5
Leber congenital amaurosis 10
Meckel syndrome
type 4
Bardet-Biedl syndrome 14
Leber congenital amaurosis
Hepatocellular carcinoma
Inborn genetic diseases
CEP290-related disorder
Intellectual disability
Retinal dystrophy
Retinitis pigmentosa
Kidney disorder
CEP290-related ciliopathy
Joubert syndrome 1
Atypical hemolytic-uremic syndrome
+41 more conditions
Key Variants
RS1036812157
Conflicting classifications of pathogenicity
Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome
Health Risk
RS11104729
Conflicting classifications of pathogenicity
Bardet-Biedl syndrome 14, Joubert syndrome 5, Leber congenital amaurosis 10
Health Risk
RS1159465602
Conflicting classifications of pathogenicity
Senior-Loken syndrome 6, Meckel syndrome, type 4
Health Risk
RS1165909730
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS117370446
Conflicting classifications of pathogenicity
Meckel syndrome, type 4, Bardet-Biedl syndrome 14
Health Risk
RS117852025
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS11836796
Conflicting classifications of pathogenicity
Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome
Health Risk
RS1200834763
Conflicting classifications of pathogenicity
Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis
Health Risk
RS1213124542
Conflicting classifications of pathogenicity
Retinal dystrophy, CEP290-related disorder, Retinal dystrophy
Health Risk
RS1301659851
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis
Health Risk
RS1330745435
Conflicting classifications of pathogenicity
Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome
Health Risk
RS1340148485
Conflicting classifications of pathogenicity
Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome
Health Risk
All Variants (892)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2499913444 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499955544 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2499956762 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499957344 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499958316 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499958555 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2499959456 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499961754 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2499961991 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2499972252 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499988736 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499989379 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499991573 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500009261 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500011110 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500019381 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500060132 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500060504 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500060832 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500065047 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500065308 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500066079 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500096910 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500108418 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500111542 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500112677 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500117363 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500156012 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500228774 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2500234504 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2500269301 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500270196 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500271417 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500523689 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2500613030 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500615773 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500616179 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500618622 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500619029 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500620311 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2500627820 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500628432 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500628699 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500683218 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500684184 | Health Risk | Pathogenic | — |
| RS2500763272 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2500813302 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500814936 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500829029 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500865968 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |