Identity
HGNC
LOCATION
12q22
LOCUSID
ALIAS
CCDC41,NPHP18,NY-REN-58
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51134
MIM: 615847
HGNC: 17966
Ensembl: ENSG00000173588
Variants:
dbSNP: 51134
ClinVar: 51134
TCGA: ENSG00000173588
COSMIC: CEP83
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Organelle biogenesis and maintenance | REACTOME | R-HSA-1852241 |
| Cilium Assembly | REACTOME | R-HSA-5617833 |
| Anchoring of the basal body to the plasma membrane | REACTOME | R-HSA-5620912 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36222666 | 2022 | The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage. | 2 |
| 36222666 | 2022 | The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage. | 2 |
| 33938610 | 2021 | Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. | 4 |
| 33938610 | 2021 | Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency. | 4 |
| 31455668 | 2019 | Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. | 34 |
| 31455668 | 2019 | Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation. | 34 |
| 24882706 | 2014 | Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. | 60 |
| 24882706 | 2014 | Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. | 60 |
| 23530209 | 2013 | CCDC41 is required for ciliary vesicle docking to the mother centriole. | 94 |
| 23530209 | 2013 | CCDC41 is required for ciliary vesicle docking to the mother centriole. | 94 |
Citation
Dessen P
CEP83 (centrosomal protein 83)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/41598/cep83-(centrosomal-protein-83)
