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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEP83
centrosomal protein 83
Chromosome 12 Β· 12q22
NCBI Gene: 51134Ensembl: ENSG00000173588.16HGNC: HGNC:17966UniProt: F8VYN8
33PubMed Papers
21Diseases
0Drugs
45Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cilium assemblyprotein localization to centrosomeprotein bindingvesicle dockingnephronophthisis 18nephronophthisisInfantile nephronophthisisnephronophthisis 2
✦AI Summary

CEP83 (centrosomal protein 83) is a critical component of the centriolar distal appendages essential for primary cilium assembly 1. As part of the CEP83-SCLT1 protein module, CEP83 functions in the hierarchical recruitment of distal appendage proteins and regulates multiple steps of ciliogenesis, including preciliary vesicle recruitment, intraflagellar transport initiation, and CP110 removal 1. CEP83 phosphorylation by TTBK2 kinase is necessary for ciliary vesicle docking and cilia initiation 2. Beyond ciliary assembly, CEP83 serves as a mother centrosome marker and coordinates centrosome asymmetry with polarized endosome trafficking in radial glia progenitors, influencing cell fate decisions 3. CEP83 also regulates differentiation of human pluripotent stem cells toward kidney lineage, with loss-of-function disrupting intermediate mesoderm specification 4. Biallelic CEP83 mutations cause nephronophthisis 18 with variable phenotypes depending on mutation type 5. Loss-of-function variants produce elongated primary cilia and cause Oro-Facial-Digital syndrome combined with Joubert syndrome 6, while partial loss-of-function mutations cause infantile nephronophthisis with intellectual disability and central nervous system abnormalities 5. Recently, CEP83 mutations have been associated with bilateral perisylvian polymicrogyria, expanding the ciliopathy phenotype spectrum 7. These diverse clinical manifestations reflect CEP83's critical roles in ciliogenesis, centrosome organization, and developmental cell fate determination.

Sources cited
1
CEP83-SCLT1 module is critical for structural assembly of distal appendages and all four steps of cilium formation
PMID: 39882846
2
TTBK2-dependent phosphorylation of CEP83 is necessary for ciliary vesicle docking and CP110 removal
PMID: 31455668
3
CEP83 associates asymmetrically with PCM1 on mother centrosome and coordinates centrosome asymmetry with endosome trafficking
PMID: 41315244
4
CEP83 regulates differentiation of human pluripotent stem cells toward intermediate mesoderm and kidney lineage
PMID: 36222666
5
Biallelic CEP83 mutations cause infantile nephronophthisis with learning disability and hydrocephalus in some patients
PMID: 24882706
6
Complete loss-of-function CEP83 variant causes elongated primary cilia and Oro-Facial-Digital syndrome with Joubert-like features
PMID: 41073425
7
CEP83 pathogenic variants can cause bilateral perisylvian polymicrogyria and cortical malformations
PMID: 39219159
Disease Associationsβ“˜21
nephronophthisis 18Open Targets
0.74Strong
nephronophthisisOpen Targets
0.56Moderate
Infantile nephronophthisisOpen Targets
0.37Weak
nephronophthisis 2Open Targets
0.37Weak
deficiency anemiaOpen Targets
0.31Weak
Parkinson diseaseOpen Targets
0.31Weak
hyperaldosteronismOpen Targets
0.30Weak
ciliopathyOpen Targets
0.30Weak
glomerulonephritisOpen Targets
0.30Weak
drug allergyOpen Targets
0.30Weak
breast diseaseOpen Targets
0.27Weak
heart conduction diseaseOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
diabetic ketoacidosisOpen Targets
0.12Weak
adolescent idiopathic scoliosisOpen Targets
0.11Weak
immune system diseaseOpen Targets
0.11Weak
connective tissue neoplasmOpen Targets
0.09Suggestive
aortic stenosisOpen Targets
0.07Suggestive
lymphatic malformation 8Open Targets
0.04Suggestive
lymphatic malformation 7Open Targets
0.03Suggestive
Nephronophthisis 18UniProt
Pathogenic Variants45
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)Pathogenic
Nephronophthisis 18|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 209
NM_016122.3(CEP83):c.1052T>G (p.Leu351Ter)Pathogenic
Nephronophthisis 18
β˜…β˜…β˜†β˜†2025β†’ Residue 351
NM_016122.3(CEP83):c.2007del (p.Glu669fs)Pathogenic
Nephronophthisis 18|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 669
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs)Pathogenic
not provided|Nephronophthisis 18
β˜…β˜…β˜†β˜†2022β†’ Residue 356
NM_016122.3(CEP83):c.934-1G>ALikely pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 511
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 41
NM_016122.3(CEP83):c.189_192dup (p.Lys65fs)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_016122.3(CEP83):c.314_318del (p.Met105fs)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 105
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 630
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 81
NM_016122.3(CEP83):c.910G>T (p.Glu304Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 304
NM_016122.3(CEP83):c.667A>T (p.Lys223Ter)Likely pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 223
NM_016122.3(CEP83):c.1033C>T (p.Gln345Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2025β†’ Residue 345
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 437
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 167
NM_016122.3(CEP83):c.1131dup (p.Arg378fs)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 378
NM_016122.3(CEP83):c.1170del (p.Lys390fs)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 390
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 650
NM_016122.3(CEP83):c.367C>T (p.Gln123Ter)Pathogenic
Nephronophthisis 18
β˜…β˜†β˜†β˜†2024β†’ Residue 123
View on ClinVar β†—
Related Genes
RAB3IPProtein interaction100%RAB8AProtein interaction94%IFT20Protein interaction93%NINProtein interaction90%CEP290Protein interaction80%C2CD3Protein interaction77%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
88%
Ovary
72%
Lung
45%
Liver
42%
Brain
25%
Gene Interaction Network
Click a node to explore
CEP83RAB3IPRAB8AIFT20NINCEP290C2CD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3B787
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.43–0.81]
RankingsWhere CEP83 stands among ~20K protein-coding genes
  • #11,303of 20,598
    Most Researched33
  • #1,432of 5,498
    Most Pathogenic Variants45
  • #6,758of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedCEP83
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 27336129
1.00
2
A hierarchical pathway for assembly of the distal appendages that organize primary cilia.
PMID: 39882846
Elife Β· 2025
0.90
3
Distinct roles of centriole distal appendage proteins in ciliary assembly and disassembly.
PMID: 39696441
Cell Commun Signal Β· 2024
0.80
4
PCM1 coordinates centrosome asymmetry with polarized endosome dynamics to regulate daughter cell fate.
PMID: 41315244
Nat Commun Β· 2025
0.70
5
The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.
PMID: 36222666
Elife Β· 2022
0.60