CEP164 (centrosomal protein 164)

2009-06-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
NPHP15
FUSION GENES

Other Information

Locus ID:

NCBI: 22897
MIM: 614848
HGNC: 29182
Ensembl: ENSG00000110274

Variants:

dbSNP: 22897
ClinVar: 22897
TCGA: ENSG00000110274
COSMIC: CEP164

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110274ENST00000278935Q9UPV0
ENSG00000110274ENST00000525416E9PIM2
ENSG00000110274ENST00000525734E9PI05
ENSG00000110274ENST00000527609E9PLS8
ENSG00000110274ENST00000533153E9PR73
ENSG00000110274ENST00000533570E9PLS8
ENSG00000110274ENST00000639320A0A1W2PQ68

Expression (GTEx)

0
10
20
30
40
50
60

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
179546132007Cep164, a novel centriole appendage protein required for primary cilium formation.233
228630072012Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.155
232534802012Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.92
231505592012ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.87
249821332014Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.41
182831222008Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.34
253405102014Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.23
252976232014Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.20
191971592009UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.18
220044252012Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study.16

Citation

Dessen P

CEP164 (centrosomal protein 164)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50935/cep164-(centrosomal-protein-164)