CDK5RAP2 (CDK5 regulatory subunit associated protein 2)

2007-04-01  

Identity

HGNC
CDK5RAP2
LOCATION
9q33.2
LOCUSID
55755
ALIAS
C48,Cep215,MCPH3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367743512023CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma.4
380085012023A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia.0
367743512023CDK5RAP2 is a Wnt target gene and promotes stemness and progression of oral squamous cell carcinoma.4
380085012023A novel missense variant in CDK5RAP2 associated with non-obstructive azoospermia.0
337255912021Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A.4
342335842021Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.2
347371532021Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.2
349308922021CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3β/β-catenin-WIP1 pathway.4
337255912021Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A.4
342335842021Triple deletion of TP53, PCNT, and CEP215 promotes centriole amplification in the M phase.2
347371532021Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.2
349308922021CDK5RAP2 loss-of-function causes premature cell senescence via the GSK3β/β-catenin-WIP1 pathway.4
320150002020CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.9
330467442020Cep215 is essential for morphological differentiation of astrocytes.1
331702112020Centriole-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