CEP250 (centrosomal protein 250)

2014-08-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
C-NAP1,CEP2,CNAP1,CRDHL2
FUSION GENES

Other Information

Locus ID:

NCBI: 11190
MIM: 609689
HGNC: 1859
Ensembl: ENSG00000126001

Variants:

dbSNP: 11190
ClinVar: 11190
TCGA: ENSG00000126001
COSMIC: CEP250

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126001ENST00000397524A6PVI9
ENSG00000126001ENST00000397527Q9BV73
ENSG00000126001ENST00000420564Q5JWS6
ENSG00000126001ENST00000422671H7C0P0
ENSG00000126001ENST00000425096H0Y5R2
ENSG00000126001ENST00000425525H7C0D6
ENSG00000126001ENST00000425934E7ETF9
ENSG00000126001ENST00000446710Q5JWS5
ENSG00000126001ENST00000461386E9PHT2
ENSG00000126001ENST00000621352A0A087WZ34

Expression (GTEx)

0
5
10
15
20

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

References

Pubmed IDYearTitleCitations
121402592002The mechanism regulating the dissociation of the centrosomal protein C-Nap1 from mitotic spindle poles.41
188519622008A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization.26
247808812014A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.26
245544342014Centlein mediates an interaction between C-Nap1 and Cep68 to maintain centrosome cohesion.21
246958562014Multisite phosphorylation of C-Nap1 releases it from Cep135 to trigger centrosome disjunction.21
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
230705192012C-NAP1 and rootletin restrain DNA damage-induced centriole splitting and facilitate ciliogenesis.18
205089832011Centrosome-related genes, genetic variation, and risk of breast cancer.16
281006362017Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.7
304593462018High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.5

Citation

Dessen P

CEP250 (centrosomal protein 250)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54212/cep250