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 |
|---|---|---|---|
| RS200587974 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Bardet-Biedl syndrome 14, Leber congenital amaurosis 10 |
| RS200666995 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14 |
| RS200729812 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS200969981 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS201218801 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS201295052 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS201504946 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Meckel syndrome, type 4 |
| RS201569048 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS201614215 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| RS201838492 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS201988582 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Senior-Loken syndrome 6, Bardet-Biedl syndrome 14 |
| RS202159966 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2034234195 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2036324053 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Nephronophthisis, Joubert syndrome |
| RS2039218006 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2040371763 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2137170380 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 10, Meckel-Gruber syndrome |
| RS2137345196 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS369451049 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Meckel-Gruber syndrome |
| RS370464321 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS371010287 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6 |
| RS371157150 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis, Meckel-Gruber syndrome, Joubert syndrome |
| RS371159780 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Joubert syndrome, Meckel-Gruber syndrome |
| RS371582975 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS371833544 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 |
| RS372190684 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS372349042 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS372986399 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS373913704 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS375038986 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Senior-Loken syndrome 6 |
| RS375817905 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS376645523 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS377156725 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS377227262 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS377529198 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, Senior-Loken syndrome 6 |
| RS377614744 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Joubert syndrome 5 |
| RS531851010 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS545964640 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS546463648 | Health Risk | Conflicting classifications of pathogenicity | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS546939043 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS546957016 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS548558619 | Health Risk | Conflicting classifications of pathogenicity | Meckel syndrome, type 4, Bardet-Biedl syndrome 14 |
| RS561018129 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 5, Joubert syndrome, Meckel-Gruber syndrome |
| RS562477272 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS565414938 | Health Risk | Conflicting classifications of pathogenicity | Senior-Loken syndrome 6, Meckel syndrome, type 4 |
| RS569673313 | Health Risk | Conflicting classifications of pathogenicity | Bardet-Biedl syndrome 14, Joubert syndrome 5, Nephronophthisis |
| RS572443869 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS61941020 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome |
| RS727503852 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS727503854 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |