Identity
HGNC
LOCATION
5q23.2
LOCUSID
ALIAS
CCDC100,JBTS31,SRTD13
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: 153241
MIM: 613446
HGNC: 26690
Ensembl: ENSG00000168944
Variants:
dbSNP: 153241
ClinVar: 153241
TCGA: ENSG00000168944
COSMIC: CEP120
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38050708 | 2024 | RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. | 1 |
| 38050708 | 2024 | RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31. | 1 |
| 33486889 | 2021 | Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. | 6 |
| 34711653 | 2021 | CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. | 2 |
| 33486889 | 2021 | Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies. | 6 |
| 34711653 | 2021 | CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum. | 2 |
| 32772081 | 2020 | Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. | 11 |
| 33297941 | 2020 | Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. | 4 |
| 32772081 | 2020 | Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk. | 11 |
| 33297941 | 2020 | Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development. | 4 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 30988386 | 2019 | CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. | 17 |
| 29741480 | 2018 | A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells. | 11 |
| 29847808 | 2018 | Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis. | 9 |
| 29741480 | 2018 | A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells. | 11 |
Citation
Dessen P
CEP120 (centrosomal protein 120)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61716/cep120-(centrosomal-protein-120)
