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 |
|---|---|---|---|
| RS2136958216 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2137167420 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2137247685 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2137423759 | Health Risk | Likely pathogenic | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Joubert syndrome 5 |
| RS2137661795 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2137707354 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2137710225 | Health Risk | Likely pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS2137779120 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2137917381 | Health Risk | Likely pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS2138021203 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2138025029 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2138082472 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2138259162 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2481007195 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499339724 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499340672 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499342693 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499343371 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499368392 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499368432 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499368529 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499368756 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499370007 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499370043 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499429479 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499446500 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499469346 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499469543 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499473051 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499527666 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2499528307 | Health Risk | Likely pathogenic | Rod-cone dystrophy, Rod-cone dystrophy |
| RS2499568269 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499571369 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Meckel syndrome |
| RS2499595696 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499596186 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499597589 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499616926 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2499617326 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499617680 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Meckel syndrome, type 4 |
| RS2499618420 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499620387 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499620795 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499726960 | Health Risk | Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2499731886 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499731924 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2499739840 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499741182 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499742387 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499742919 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2499844187 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |