P2RX6 (purinergic receptor P2X 6)

2003-02-01  

Identity

HGNC
P2RX6
LOCATION
22q11.21
LOCUSID
9127
ALIAS
P2RXL1,P2X6,P2XM

Other Information

Locus ID:

NCBI: 9127
MIM: 608077
HGNC: 8538
Ensembl: ENSG00000099957

Variants:

dbSNP: 9127
ClinVar: 9127
TCGA: ENSG00000099957
COSMIC: P2RX6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099957ENST00000401443O15547
ENSG00000099957ENST00000413302O15547
ENSG00000099957ENST00000422210H7C2V4
ENSG00000099957ENST00000432930H7C266
ENSG00000099957ENST00000442475E7ES48
ENSG00000099957ENST00000452228H7C140

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Elevation of cytosolic Ca2+ levelsREACTOMER-HSA-139853

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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
156570422005Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize.68
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
188523902008Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes.22
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
120882862002P2X4 and P2X6 receptors associate with VE-cadherin in human endothelial cells.13
223787902012ATP binding site mutagenesis reveals different subunit stoichiometry of functional P2X2/3 and P2X2/6 receptors.8

Citation

Dessen P

P2RX6 (purinergic receptor P2X 6)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41624/p2rx6