P2RX2 (purinergic receptor P2X 2)

2014-11-01  

Identity

HGNC
P2RX2
LOCATION
12q24.33
LOCUSID
22953
ALIAS
DFNA41,P2X2

Other Information

Locus ID:

NCBI: 22953
MIM: 600844
HGNC: 15459
Ensembl: ENSG00000187848

Variants:

dbSNP: 22953
ClinVar: 22953
TCGA: ENSG00000187848
COSMIC: P2RX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187848ENST00000343948Q9UBL9
ENSG00000187848ENST00000348800Q9UBL9
ENSG00000187848ENST00000350048Q9UBL9
ENSG00000187848ENST00000351222Q9UBL9
ENSG00000187848ENST00000352418Q9UBL9
ENSG00000187848ENST00000449132Q9UBL9
ENSG00000187848ENST00000542301Q32MC3
ENSG00000187848ENST00000643471Q9UBL9

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

Pathways

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Taste transductionKEGGko04742
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Taste transductionKEGGhsa04742
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Elevation of cytosolic Ca2+ levelsREACTOMER-HSA-139853

References

Pubmed IDYearTitleCitations
156570422005Atomic force microscopy imaging demonstrates that P2X2 receptors are trimers but that P2X6 receptor subunits do not oligomerize.68
233454502013Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.47
153136282004Trimeric architecture of homomeric P2X2 and heteromeric P2X1+2 receptor subtypes.40
184872062008Cysteine substitution mutagenesis and the effects of methanethiosulfonate reagents at P2X2 and P2X4 receptors support a core common mode of ATP action at P2X receptors.33
215764972011Agonist trapped in ATP-binding sites of the P2X2 receptor.32
189227872008Regulation of P2X2 receptors by the neuronal calcium sensor VILIP1.28
206992252010Lipid raft association and cholesterol sensitivity of P2X1-4 receptors for ATP: chimeras and point mutants identify intracellular amino-terminal residues involved in lipid regulation of P2X1 receptors.22
213432852011Regulation of GABA(A) receptor dynamics by interaction with purinergic P2X(2) receptors.19
123951042002ATP-gated ion channels assembled from P2X2 receptor subunits in the mouse cochlea.18
228288002012Activation of trimeric P2X2 receptors by fewer than three ATP molecules.18

Citation

Dessen P

P2RX2 (purinergic receptor P2X 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71601/p2rx2