CEP83 (centrosomal protein 83)

2003-06-01  

Identity

HGNC
LOCATION
12q22
LOCUSID
ALIAS
CCDC41,NPHP18,NY-REN-58
FUSION GENES

Other Information

Locus ID:

NCBI: 51134
MIM: 615847
HGNC: 17966
Ensembl: ENSG00000173588

Variants:

dbSNP: 51134
ClinVar: 51134
TCGA: ENSG00000173588
COSMIC: CEP83

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173588ENST00000339839Q9Y592
ENSG00000173588ENST00000397807A0A0A0MS84
ENSG00000173588ENST00000397809Q9Y592
ENSG00000173588ENST00000547232A0A338VFC5
ENSG00000173588ENST00000547575F8VYN8
ENSG00000173588ENST00000552632H0YHH5

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235302092013CCDC41 is required for ciliary vesicle docking to the mother centriole.63
248827062014Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.35
314556682019Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.2

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)