P2RX2 - purinergic receptor P2X 2 Gene
Also Known as P2X2; DFNA41
Species: Homo sapiens
About P2RX2
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 |
P2RX2 Protein Structure
P2X_receptor: ATP P2X receptor (27 - 385)
- 0
- 100
- 200
- 300
- 400
- 471 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
P2X purinoceptor 2 |
|
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paine Syndrome |
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| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
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| Low Compliance Bladder |
|
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| Autosomal Dominant Nonsyndromic Deafness |
|
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| Interstitial Cystitis |
|
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| Sensorineural Hearing Loss |
|
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| Deafness, Autosomal Dominant 41 |
|
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| Neurogenic Bladder |
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| Migraine With Or Without Aura 1 |
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| Detrusor Sphincter Dyssynergia |
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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 |