POC1B (POC1 centriolar protein B)

2016-10-01  

Identity

HGNC
POC1B
LOCATION
12q21.33
LOCUSID
282809
ALIAS
CORD20,PIX1,TUWD12,WDR51B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 282809
MIM: 614784
HGNC: 30836
Ensembl: ENSG00000139323

Variants:

dbSNP: 282809
ClinVar: 282809
TCGA: ENSG00000139323
COSMIC: POC1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139323ENST00000313546Q8TC44
ENSG00000139323ENST00000313546A0MNP0
ENSG00000139323ENST00000393179Q8IU52
ENSG00000139323ENST00000546830F8VX21
ENSG00000139323ENST00000547274F8VV91
ENSG00000139323ENST00000547496F8VV91
ENSG00000139323ENST00000548715F8VV91
ENSG00000139323ENST00000549035Q8TC44
ENSG00000139323ENST00000549504F8VPF1

Expression (GTEx)

0
5
10
15
20
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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
250180962014Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.24
230155942013Poc1A and Poc1B act together in human cells to ensure centriole integrity.21
271858652016CEP295 interacts with microtubules and is required for centriole elongation.19
180687002008Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells.14
269086252016Genome-wide association and Mendelian randomization study of NT-proBNP in patients with acute coronary syndrome.14
200085672009Basal body stability and ciliogenesis requires the conserved component Poc1.0
249454612014Novel recessive cone-rod dystrophy caused by POC1B mutation.0
250447452014Mutation of POC1B in a severe syndromic retinal ciliopathy.0
266508032016Analysis of catechol-O-methyltransferase gene mutation and identification of new pathogenic gene for paroxysmal kinesigenic dyskinesia.0

Citation

Dessen P

POC1B (POC1 centriolar protein B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56598/poc1b