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 |
|---|---|---|---|
| RS62640572 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS62640574 | Health Risk | Pathogenic | Leber congenital amaurosis, Nephronophthisis, Joubert syndrome |
| RS62640578 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS62640579 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS62640580 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS62640581 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS62640582 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS727503853 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS746413821 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS747138345 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS747835249 | Health Risk | Pathogenic | Retinal dystrophy, Joubert syndrome, Meckel-Gruber syndrome |
| RS749331348 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS749439750 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS750073051 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS750520052 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS751223288 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS751807811 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS752197734 | Health Risk | Pathogenic | Retinal dystrophy, Bardet-Biedl syndrome 14, Nephronophthisis |
| RS753884599 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS756302731 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS757609119 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS758550675 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS758593134 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS759850328 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS760415289 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS760540562 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS763345078 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Meckel syndrome, type 4 |
| RS763559949 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS764309755 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS764507012 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS766095901 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS766608755 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS767250881 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS768864797 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS769091629 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS770126103 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS770474857 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS771266705 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Meckel-Gruber syndrome, Joubert syndrome |
| RS772170760 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS773390201 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS774410421 | Health Risk | Pathogenic | Encephalocele, Severe hydrocephalus, Polycystic kidney disease |
| RS774705706 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS776645403 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS779262951 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS779645669 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS780225183 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS780624853 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS780805963 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS780896294 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS863224523 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |