CEP104 Chromosome 1
Centrosomal protein 104
Upload your DNA to see your personal genotypes for variants in CEP104.
What This Gene Does
This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"Cilia and flagella associated|TOG domain containing"
Locus Type
gene with protein product
Location
1p36.32
Ensembl
ENSG00000116198
Associated Conditions (15)
Joubert syndrome 25
Inborn genetic diseases
CEP104-related disorder
Joubert syndrome and related disorders
Autosomal recessive CEP104-related disorders
Ciliopathy
Intellectual developmental disorder
autosomal recessive 77
Melanoma
Autism spectrum disorder
Sarcoma
Cerebellar ataxia
Dystonic disorder
Global developmental delay
See cases
Key Variants
RS139076247
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25
Health Risk
RS140022279
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25
Health Risk
RS140029326
Conflicting classifications of pathogenicity
Joubert syndrome 25, Joubert syndrome 25
Health Risk
RS140512094
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, CEP104-related disorder
Health Risk
RS143501631
Conflicting classifications of pathogenicity
Joubert syndrome 25, Joubert syndrome 25
Health Risk
RS144278349
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25
Health Risk
RS144744629
Conflicting classifications of pathogenicity
Joubert syndrome 25, Joubert syndrome and related disorders, Autosomal recessive CEP104-related disorders
Health Risk
RS144805659
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Ciliopathy
Health Risk
RS146922115
Conflicting classifications of pathogenicity
Joubert syndrome 25, Joubert syndrome 25
Health Risk
RS148877817
Conflicting classifications of pathogenicity
Joubert syndrome 25, Intellectual developmental disorder, autosomal recessive 77
Health Risk
RS185664269
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25
Health Risk
RS199576006
Conflicting classifications of pathogenicity
Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139076247 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS140022279 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS140029326 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Joubert syndrome 25 |
| RS140512094 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, CEP104-related disorder |
| RS143501631 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Joubert syndrome 25 |
| RS144278349 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS144744629 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Joubert syndrome and related disorders, Autosomal recessive CEP104-related disorders |
| RS144805659 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Ciliopathy |
| RS146922115 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Joubert syndrome 25 |
| RS148877817 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Intellectual developmental disorder, autosomal recessive 77 |
| RS185664269 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS199576006 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS374824835 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Joubert syndrome 25, Intellectual developmental disorder |
| RS533659013 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Intellectual developmental disorder, autosomal recessive 77 |
| RS552644535 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, CEP104-related disorder, Joubert syndrome 25 |
| RS561088543 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Inborn genetic diseases, Joubert syndrome 25 |
| RS755406055 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Joubert syndrome 25 |
| RS756171105 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 25, Melanoma, Joubert syndrome 25 |
| RS1189678912 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS1334483830 | Health Risk | Likely pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS2525430282 | Health Risk | Likely pathogenic | CEP104-related disorder, CEP104-related disorder |
| RS2525448659 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2525456167 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2525524433 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2525524684 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS751734367 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome 25, Intellectual developmental disorder |
| RS781134558 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Sarcoma, Joubert syndrome 25 |
| RS1211389550 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS1411591918 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 77, Intellectual developmental disorder |
| RS1570858523 | Health Risk | Pathogenic | Cerebellar ataxia, Dystonic disorder, Global developmental delay |
| RS2124647615 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 77, Intellectual developmental disorder |
| RS2525448754 | Health Risk | Pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS374574638 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS759675006 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 77, Joubert syndrome and related disorders |
| RS765630867 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS771531523 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS776094913 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS869025276 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS869025277 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS869025278 | Health Risk | Pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS1484807480 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 25, Joubert syndrome 25 |
| RS1644169357 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS372048855 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 25, Intellectual developmental disorder, autosomal recessive 77 |
| RS749829859 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome and related disorders, Intellectual developmental disorder, autosomal recessive 77 |
| RS750473230 | Health Risk | Pathogenic/Likely pathogenic | See cases, Joubert syndrome 25, See cases |
| RS757772764 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 25, Intellectual developmental disorder, autosomal recessive 77 |
| RS778850368 | Health Risk | Pathogenic/Likely pathogenic | CEP104-related disorder, Intellectual developmental disorder, autosomal recessive 77 |