P2RX2 - purinergic receptor P2X 2 Gene

Also Known as P2X2; DFNA41

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22953

About P2RX2

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,618,776-132,622,388 (from NCBI)

This gene has 8 transcripts (splice variants), 190 orthologues, 6 paralogues and is associated with 2 phenotypes.

Summary

The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]

P2RX2 Products (14)

mRNA Protein Name
NM_012226.5 NP_036358.2 P2X purinoceptor 2 isoform I
NM_174873.3 NP_777362.1 P2X purinoceptor 2 isoform B
NM_170682.4 NP_733782.1 P2X purinoceptor 2 isoform A
XM_005266156.6 XP_005266213.1 P2X purinoceptor 2 isoform X5
NM_174872.3 NP_777361.1 P2X purinoceptor 2 isoform H
XM_005266154.5 XP_005266211.1 P2X purinoceptor 2 isoform X1
XM_017019035.3 XP_016874524.1 P2X purinoceptor 2 isoform X4
NM_170683.4 NP_733783.1 P2X purinoceptor 2 isoform D
NM_001282164.2 NP_001269093.1 P2X purinoceptor 2 isoform J
NM_001282165.2 NP_001269094.1 P2X purinoceptor 2 isoform K
XM_005266155.6 XP_005266212.1 P2X purinoceptor 2 isoform X2
NM_016318.4 NP_057402.1 P2X purinoceptor 2 isoform C
XM_011534786.4 XP_011533088.1 P2X purinoceptor 2 isoform X3
NM_001282164.2 NP_001269093.1 P2X purinoceptor 2 isoform J
Molecular Function GO Annotation Evidence References Source
enables extracellularly ATP-gated monoatomic cation channel activity IDA
IDA: Inferred from direct assay
23345450 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
15313628 GOA
Biological Process GO Annotation Evidence References Source
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
23345450 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
23345450 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23345450 GOA
part of receptor complex IDA
IDA: Inferred from direct assay
15313628 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P2RX2 Protein Structure

P2X_receptor

P2X_receptor: ATP P2X receptor (27 - 385)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 471 a.a.
Protein Preferred Names Protein Names

P2X purinoceptor 2

  • ATP receptor

  • P2X Receptor, subunit 2

  • purinergic receptor P2X, ligand gated ion channel, 2

Related Diseases

Diseases Alias
Paine Syndrome
  • Pain Disorder

  • Pain

  • Microcephaly With Spastic Diplegia

  • Pain Syndrome

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna
  • Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

  • Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

  • Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

  • Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

  • Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Low Compliance Bladder
  • Overactive Bladder

  • Hyperactivity Of Bladder

  • Hypertonic Bladder

  • Hypertonicity Of Bladder

  • Low Bladder Compliance

  • Oab - [Overactive Bladder]

Autosomal Dominant Nonsyndromic Deafness
  • Autosomal Dominant Deafness

Interstitial Cystitis
  • Bladder Pain Syndrome

  • Painful Bladder Syndrome

  • Ulcerative Cystitis

  • Ic/Bps

  • Ic/Pbs

  • Interstitial Cystitis/Bladder Pain Syndrome

  • Interstitial Cystitis/Painful Bladder Syndrome

  • Cystitis, Interstitial

  • Chronic Interstitial Cystitis

  • Pelvic Congestion Syndrome

  • Trigonitis

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Sensorineural Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Deafness, Autosomal Dominant 41
  • DFNA41

  • Autosomal Dominant Nonsyndromic Deafness 41

  • Autosomal Dominant Deafness 41

  • Deafness, Autosomal Dominant, 41

  • Deafness, Autosomal Dominant, Type 41

Neurogenic Bladder
  • Neurogenic Dysfunction Of The Urinary Bladder

  • Neurogenic Urinary Bladder Disorder

  • Neuropathic Bladder

  • Bladder Neurogenic

  • Urinary Bladder, Neurogenic

  • Neurogenic Urinary Bladder

Migraine With Or Without Aura 1
  • Migraine

  • Migraine With Or Without Aura, Susceptibility To, 1

  • Migraine Disorder

  • Migraine Variant

  • Migraines

  • Migraine Disorders

  • Mgr1

  • Mgau

  • Ma

  • Migraine With Or Without Aura

  • Classic Migraine

  • Common Migraine

  • Disorder, Migraine

  • Headache Migraine

  • Headache Migrainous

  • Migraine Headache

  • Migraine Syndrome

  • Headache Including Migraine

  • Migraine, Susceptibility To

Detrusor Sphincter Dyssynergia
  • Detrusor And Sphincter Dyssynergia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus P2RX2 MGD MGI:2665170
Rattus norvegicus P2RX2 RGD RGD:620251
Macaca mulatta P2RX2 VGNC VGNC:75609
Bos taurus P2RX2 VGNC VGNC:32518
Felis catus P2RX2 VGNC VGNC:64009
Canis familiaris P2RX2 VGNC VGNC:44208
Others P2RX2 NCBI