POC5 (POC5 centriolar protein)

2014-11-01  

Identity

HGNC
POC5
LOCATION
5q13.3
LOCUSID
134359
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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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
372394712023Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.0
372394712023Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.0
343560482021Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.4
343560482021Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.4
308451692019Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.16
308451692019Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.16
291895692018Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.7
292724042018Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.14
291895692018Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.7
292724042018Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.14
271858652016CEP295 interacts with microtubules and is required for centriole elongation.42
271858652016CEP295 interacts with microtubules and is required for centriole elongation.42
256427762015Functional variants of POC5 identified in patients with idiopathic scoliosis.39
256427762015Functional variants of POC5 identified in patients with idiopathic scoliosis.39
238442082013Calcium-binding capacity of centrin2 is required for linear POC5 assembly but not for nucleotide excision repair.15

Citation

Dessen P

POC5 (POC5 centriolar protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72038/js/case-report-explorer/