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 |
|---|---|---|---|
| RS2500866381 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500866434 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2500866580 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2500935910 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS2501035387 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2501040632 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2501090110 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501093691 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2501098066 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2501269442 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2501272074 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501278271 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501333823 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS2501462993 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501463457 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14 |
| RS2501466847 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501468319 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501474958 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501476639 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501497769 | Health Risk | Pathogenic | Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome |
| RS2501502939 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501542597 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS2501544530 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501849042 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501851232 | Health Risk | Pathogenic | Meckel syndrome, type 4, Meckel syndrome |
| RS2501852178 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS2501862857 | Health Risk | Pathogenic | Joubert syndrome, Meckel-Gruber syndrome, Nephronophthisis |
| RS281865187 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS281865188 | Health Risk | Pathogenic | Retinitis pigmentosa, Nephronophthisis, Joubert syndrome |
| RS369935020 | Health Risk | Pathogenic | Bardet-Biedl syndrome 14, Retinal dystrophy, Bardet-Biedl syndrome 14 |
| RS371496675 | Health Risk | Pathogenic | Retinal dystrophy, Leber congenital amaurosis, Joubert syndrome |
| RS371525247 | Health Risk | Pathogenic | Joubert syndrome 5, Nephronophthisis, Joubert syndrome |
| RS372640024 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Joubert syndrome, Nephronophthisis |
| RS375548374 | Health Risk | Pathogenic | Meckel-Gruber syndrome, Nephronophthisis, Joubert syndrome |
| RS376493409 | Health Risk | Pathogenic | Joubert syndrome 5, Global developmental delay, Blindness |
| RS386834148 | Health Risk | Pathogenic | Meckel syndrome, type 4, Joubert syndrome 5 |
| RS386834151 | Health Risk | Pathogenic | Meckel syndrome, type 4, Nephronophthisis |
| RS386834152 | Health Risk | Pathogenic | Meckel syndrome, type 4, Joubert syndrome 5 |
| RS386834157 | Health Risk | Pathogenic | Meckel syndrome, type 4, Joubert syndrome 5 |
| RS386834158 | Health Risk | Pathogenic | Meckel syndrome, type 4, 6 conditions |
| RS386834159 | Health Risk | Pathogenic | Meckel syndrome, type 4, Nephronophthisis |
| RS539400286 | Health Risk | Pathogenic | Joubert syndrome 5, Meckel syndrome, type 4 |
| RS555755221 | Health Risk | Pathogenic | Joubert syndrome 5, Meckel-Gruber syndrome, Nephronophthisis |
| RS575767207 | Health Risk | Pathogenic | Joubert syndrome 5, Leber congenital amaurosis 10, Bardet-Biedl syndrome 14 |
| RS587783010 | Health Risk | Pathogenic | Leber congenital amaurosis 10, Bardet-Biedl syndrome 14, CEP290-related disorder |
| RS587783016 | Health Risk | Pathogenic | Leber congenital amaurosis 10, Joubert syndrome 5, Joubert syndrome |
| RS587783017 | Health Risk | Pathogenic | Leber congenital amaurosis 10, Nephronophthisis, Joubert syndrome |
| RS62635288 | Health Risk | Pathogenic | Joubert syndrome 5, Leber congenital amaurosis, Nephronophthisis |
| RS62638180 | Health Risk | Pathogenic | Nephronophthisis, Joubert syndrome, Meckel-Gruber syndrome |
| RS62640570 | Health Risk | Pathogenic | Meckel syndrome, type 4, Nephronophthisis |