P2RX2 Chromosome 12
Purinergic receptor P2X 2
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What This Gene Does
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]
Gene Info
Gene Group
Purinergic receptors P2X
Locus Type
gene with protein product
Location
12q24.33
Ensembl
ENSG00000187848
Associated Conditions (3)
P2RX2-related disorder
Bilateral sensorineural hearing impairment
Autosomal dominant nonsyndromic hearing loss 41
Key Variants
RS115260724
Conflicting classifications of pathogenicity
P2RX2-related disorder, P2RX2-related disorder
Health Risk
RS140717688
Conflicting classifications of pathogenicity
Health Risk
RS143626910
Conflicting classifications of pathogenicity
Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
Health Risk
RS148054613
Conflicting classifications of pathogenicity
Health Risk
RS150293706
Conflicting classifications of pathogenicity
Health Risk
RS199712315
Conflicting classifications of pathogenicity
Health Risk
RS199955493
Conflicting classifications of pathogenicity
Health Risk
RS200978001
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41
Health Risk
RS202099523
Conflicting classifications of pathogenicity
P2RX2-related disorder, P2RX2-related disorder
Health Risk
RS369100205
Conflicting classifications of pathogenicity
Health Risk
RS369473481
Conflicting classifications of pathogenicity
Health Risk
RS370189963
Conflicting classifications of pathogenicity
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115260724 | Health Risk | Conflicting classifications of pathogenicity | P2RX2-related disorder, P2RX2-related disorder |
| RS140717688 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143626910 | Health Risk | Conflicting classifications of pathogenicity | Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
| RS148054613 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150293706 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199712315 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199955493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200978001 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41 |
| RS202099523 | Health Risk | Conflicting classifications of pathogenicity | P2RX2-related disorder, P2RX2-related disorder |
| RS369100205 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369473481 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370189963 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS532793633 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747266387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775460016 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777692 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41 |
| RS202138002 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41, Autosomal dominant nonsyndromic hearing loss 41 |