PCNT (pericentrin)

2007-02-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
KEN,MOPD2,PCN,PCNT2,PCNTB,PCTN2,SCKL4
FUSION GENES

Other Information

Locus ID:

NCBI: 5116
MIM: 605925
HGNC: 16068
Ensembl: ENSG00000160299

Variants:

dbSNP: 5116
ClinVar: 5116
TCGA: ENSG00000160299
COSMIC: PCNT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160299ENST00000359568O95613
ENSG00000160299ENST00000418394H7C2A3

Expression (GTEx)

0
50
100
150

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
181743962008Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.131
181571272008Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.115
122211282002Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.85
221842002011PLK1 phosphorylation of pericentrin initiates centrosome maturation at the onset of mitosis.83
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
225421012012Kendrin is a novel substrate for separase involved in the licensing of centriole duplication.49
195462412009Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1.41
227224932012Separase-dependent cleavage of pericentrin B is necessary and sufficient for centriole disengagement during mitosis.38
196437722010Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.33
244663162014Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis.28

Citation

Dessen P

PCNT (pericentrin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46563/pcnt-(pericentrin)