CDK5RAP2 (CDK5 regulatory subunit associated protein 2)

2007-04-01  

Identity

HGNC
LOCATION
9q33.2
LOCUSID
ALIAS
C48,Cep215,MCPH3
FUSION GENES

Other Information

Locus ID:

NCBI: 55755
MIM: 608201
HGNC: 18672
Ensembl: ENSG00000136861

Variants:

dbSNP: 55755
ClinVar: 55755
TCGA: ENSG00000136861
COSMIC: CDK5RAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136861ENST00000349780Q96SN8
ENSG00000136861ENST00000360190Q96SN8
ENSG00000136861ENST00000360822A0A0A0MRG9
ENSG00000136861ENST00000416449B1AMJ5
ENSG00000136861ENST00000425647Q5JTU8
ENSG00000136861ENST00000473282F8WF55
ENSG00000136861ENST00000480112F8WCI3
ENSG00000136861ENST00000481266F8WBJ0
ENSG00000136861ENST00000482047C9K0C9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
157935862005A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.207
179598312008CDK5RAP2 is a pericentriolar protein that functions in centrosomal attachment of the gamma-tubulin ring complex.101
180426212007Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion.82
200808002010Sex-dependent association of common variants of microcephaly genes with brain structure.49
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
204667222010Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex.42
166313242006Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ.30
195534732009Interaction of CDK5RAP2 with EB1 to track growing microtubule tips and to regulate microtubule dynamics.28
244663162014Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis.28
247821772014Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.28

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)