Identity
HGNC
LOCATION
9q33.2
LOCUSID
ALIAS
C48,Cep215,MCPH3
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: 55755
MIM: 608201
HGNC: 18672
Ensembl: ENSG00000136861
Variants:
dbSNP: 55755
ClinVar: 55755
TCGA: ENSG00000136861
COSMIC: CDK5RAP2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36774351 | 2023 | CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma. | 4 |
| 38008501 | 2023 | A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia. | 0 |
| 36774351 | 2023 | CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma. | 4 |
| 38008501 | 2023 | A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia. | 0 |
| 33725591 | 2021 | Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A. | 4 |
| 34233584 | 2021 | Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase. | 2 |
| 34737153 | 2021 | Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly. | 2 |
| 34930892 | 2021 | CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3β/β-catenin-WIP1 pathway. | 4 |
| 33725591 | 2021 | Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A. | 4 |
| 34233584 | 2021 | Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase. | 2 |
| 34737153 | 2021 | Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly. | 2 |
| 34930892 | 2021 | CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3β/β-catenin-WIP1 pathway. | 4 |
| 32015000 | 2020 | CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. | 9 |
| 33046744 | 2020 | Cep215 is essential for morphological differentiation of astrocytes. | 1 |
| 33170211 | 2020 | Centriole-independent mitotic spindle assembly relies on the PCNT-CDK5RAP2 pericentriolar matrix. | 20 |
Citation
Dessen P
CDK5RAP2 (CDK5 regulatory subunit associated protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46631/cdk5rap2-(cdk5-regulatory-subunit-associated-protein-2)
