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  2. P2RX2 - purinergic receptor P2X 2 Gene

P2RX2 - purinergic receptor P2X 2 Gene

Homo sapiens

Also known as P2X2; DFNA41

Gene ID: 22953 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference Source
involved in sensory perception of sound IMP
IMP: Inferred from mutant phenotype
23345450 GOA
Cellular Component GO Annotation Evidence Reference 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
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  • 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