POC5 (POC5 centriolar protein)

2014-11-01  

Identity

HGNC
LOCATION
5q13.3
LOCUSID
ALIAS
C5orf37

Other Information

Locus ID:

NCBI: 134359
MIM: 617880
HGNC: 26658
Ensembl: ENSG00000152359

Variants:

dbSNP: 134359
ClinVar: 134359
TCGA: ENSG00000152359
COSMIC: POC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152359ENST00000428202Q8NA72
ENSG00000152359ENST00000446329Q8NA72
ENSG00000152359ENST00000502826D6RJ06
ENSG00000152359ENST00000503835D6RBC1
ENSG00000152359ENST00000506164D6REA5
ENSG00000152359ENST00000510798Q8NA72
ENSG00000152359ENST00000514838D6RDG4
ENSG00000152359ENST00000515285D6RIH2

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193495822009hPOC5 is a centrin-binding protein required for assembly of full-length centrioles.67
271858652016CEP295 interacts with microtubules and is required for centriole elongation.19
256427762015Functional variants of POC5 identified in patients with idiopathic scoliosis.17
238442082013Calcium-binding capacity of centrin2 is required for linear POC5 assembly but not for nucleotide excision repair.9
292724042018Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.5
308451692019Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.4
291895692018Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.3

Citation

Dessen P

POC5 (POC5 centriolar protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72038/poc5