CEP63 (centrosomal protein 63)

2007-02-01  

Identity

HGNC
CEP63
LOCATION
3q22.2
LOCUSID
80254
ALIAS
SCKL6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80254
MIM: 614724
HGNC: 25815
Ensembl: ENSG00000182923

Variants:

dbSNP: 80254
ClinVar: 80254
TCGA: ENSG00000182923
COSMIC: CEP63

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182923ENST00000332047Q96MT8
ENSG00000182923ENST00000337090Q96MT8
ENSG00000182923ENST00000354446Q96MT8
ENSG00000182923ENST00000383229Q96MT8
ENSG00000182923ENST00000504929H0YAE6
ENSG00000182923ENST00000508778H0Y900
ENSG00000182923ENST00000511574D6RAY6
ENSG00000182923ENST00000512894D6R9Q4
ENSG00000182923ENST00000513612Q96MT8
ENSG00000182923ENST00000514678H0YAL1
ENSG00000182923ENST00000606977Q96MT8
ENSG00000182923ENST00000620544Q96MT8
ENSG00000182923ENST00000650279A0A3B3IT05

Expression (GTEx)

0
5
10
15
20
25
30
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
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
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
233333162013Selective chemical crosslinking reveals a Cep57-Cep63-Cep152 centrosomal complex.39
239361282013Cep63 and cep152 cooperate to ensure centriole duplication.25
214063982011Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
225550182012Computational investigation of pathogenic nsSNPs in CEP63 protein.10
264006862015Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.8
208462172010Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.7
164106842005The transcripts of SFRP1,CEP63 and EIF4G2 genes are frequently downregulated in transitional cell carcinomas of the bladder.5
308583762019Molecular architecture of a cylindrical self-assembly at human centrosomes.5

Citation

Dessen P

CEP63 (centrosomal protein 63)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46318/cep63