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 |
|---|---|---|---|
| RS1404507934 | Health Risk | Pathogenic/Likely pathogenic | Senior-Loken syndrome 6, Meckel-Gruber syndrome, Joubert syndrome |
| RS1411950710 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS1420974027 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS1437841365 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1438792443 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1440259390 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1441877386 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS1465414886 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS1468269366 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1478582091 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1482471100 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1555197766 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS1555212271 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS1555213204 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Joubert syndrome |
| RS1555220625 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1565822519 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1592671672 | Health Risk | Pathogenic/Likely pathogenic | Meckel syndrome, type 4, Senior-Loken syndrome 6 |
| RS1592833648 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 5, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS200818935 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2033254449 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2033937635 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Bardet-Biedl syndrome 14, Nephronophthisis |
| RS2033943937 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2034232539 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Joubert syndrome |
| RS2035358840 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2035399616 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2035400071 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036111540 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036306894 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2036808766 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2036816455 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036817502 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036824785 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2036833257 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2036977719 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036977924 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2038340977 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10 |
| RS2039204524 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2039987359 | Health Risk | Pathogenic/Likely pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |
| RS2039993548 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2040497202 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2040498071 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2040644756 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2136725569 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2136748724 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2136911405 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2136964385 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2137056192 | Health Risk | Pathogenic/Likely pathogenic | CEP290-related disorder, Nephronophthisis, Joubert syndrome |
| RS2137150860 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2137182509 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2137276301 | Health Risk | Pathogenic/Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |