P2RX2 (purinergic receptor P2X 2)

2014-11-01  

Identity

HGNC
LOCATION
12q24.33
LOCUSID
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

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
352855172022P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.1
362465592022Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer.1
352855172022P2X2 receptor subunit interfaces are missense variant hotspots, where mutations tend to increase apparent ATP affinity.1
362465592022Identification of Calcium Channel-Related Gene P2RX2 for Prognosis and Immune Infiltration in Prostate Cancer.1
337918002021Generation and characterization of a P2rx2 V60L mouse model for DFNA41.3
343438962021Increased P2×2 receptors induced by amyloid-β peptide participates in the neurotoxicity in alzheimer's disease.3
344256612021Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.1
337918002021Generation and characterization of a P2rx2 V60L mouse model for DFNA41.3
343438962021Increased P2×2 receptors induced by amyloid-β peptide participates in the neurotoxicity in alzheimer's disease.3
344256612021Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.1
315933482020Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.3
318431942020Identification of a distinct desensitisation gate in the ATP-gated P2X2 receptor.1
315933482020Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study.3
318431942020Identification of a distinct desensitisation gate in the ATP-gated P2X2 receptor.1
316361902019Hearing loss mutations alter the functional properties of human P2X2 receptor channels through distinct mechanisms.10

Citation

Dessen P

P2RX2 (purinergic receptor P2X 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71601/p2rx2-(purinergic-receptor-p2x-2)