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 |
|---|---|---|---|
| RS1555218898 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS1555220638 | Health Risk | Pathogenic | Leber congenital amaurosis, Meckel syndrome, type 4 |
| RS1555222073 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1555225566 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1565821736 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1565827171 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1565846034 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1592574519 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1592639588 | Health Risk | Pathogenic | Joubert syndrome 1, Joubert syndrome 1 |
| RS1592656929 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1592668925 | Health Risk | Pathogenic | Joubert syndrome 1, Meckel-Gruber syndrome, Joubert syndrome |
| RS1592671313 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1592706963 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1592726020 | Health Risk | Pathogenic | Leber congenital amaurosis, Bardet-Biedl syndrome 14, Leber congenital amaurosis |
| RS1592784618 | Health Risk | Pathogenic | Leber congenital amaurosis, Meckel-Gruber syndrome, Nephronophthisis |
| RS1592807018 | Health Risk | Pathogenic | Meckel syndrome, type 4, Senior-Loken syndrome 6 |
| RS1592808035 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2033241849 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2033827549 | Health Risk | Pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Nephronophthisis |
| RS2034235109 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2034243912 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2034330893 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2035114607 | Health Risk | Pathogenic | Joubert syndrome 5, Intellectual disability, Joubert syndrome 5 |
| RS2035124136 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2035367210 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2035393800 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2035884532 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2036106218 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036318355 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036372197 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036582730 | Health Risk | Pathogenic | — |
| RS2036712105 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2036717675 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036720274 | Health Risk | Pathogenic | Joubert syndrome 5, Joubert syndrome 5 |
| RS2036830890 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2036971853 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2036974151 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036975289 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2037140260 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS2037150824 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2037226237 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS2037477197 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2037478393 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2038335853 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2038919221 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2039321844 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2039364798 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2039659434 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2039957886 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2039985700 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |