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 |
|---|---|---|---|
| RS2500956859 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501035965 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, CEP290-related disorder, Bardet-Biedl syndrome 14 |
| RS2501038652 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501043274 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501043847 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501049333 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501054131 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501054222 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501098597 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501271113 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501271560 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501274238 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501328740 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501464922 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501475352 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501499274 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501502246 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501504626 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2501504852 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501800454 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501802132 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS281865190 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS367676646 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS386834155 | Health Risk | Likely pathogenic | Meckel syndrome, type 4, Meckel syndrome |
| RS386834156 | Health Risk | Likely pathogenic | Meckel syndrome, type 4, Meckel syndrome |
| RS757210438 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS758193337 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS758878983 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Senior-Loken syndrome 6, Leber congenital amaurosis 10 |
| RS763226787 | Health Risk | Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS764551108 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS766670248 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS766952056 | Health Risk | Likely pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS770015278 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS77818876 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS779409629 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS779865400 | Health Risk | Likely pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS781670422 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Nephronophthisis, Joubert syndrome |
| RS786205620 | Health Risk | Likely pathogenic | — |
| RS797044604 | Health Risk | Likely pathogenic | Leber congenital amaurosis 10, Bardet-Biedl syndrome, Meckel syndrome |
| RS878853361 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS886039805 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Meckel syndrome, type 4 |
| RS935130451 | Health Risk | Likely pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS951979448 | Health Risk | Likely pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1014354752 | Health Risk | Pathogenic | Nephronophthisis, Meckel-Gruber syndrome, Joubert syndrome |
| RS1027368517 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS1033594764 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS1057519165 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1064793733 | Health Risk | Pathogenic | — |
| RS1158268529 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS1159120623 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Nephronophthisis, Meckel-Gruber syndrome |