P2RX3
purinergic receptor P2X 3
Summary
This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5'-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs927729494 | 11:57,106,031 | T/C | — | uncertain significance |
| rs754831763 | 11:57,106,107 | G/T | — | uncertain significance |
| rs11603691 | 11:57,107,617 | G/C | — | — |
| rs770234360 | 11:57,114,034 | G/A | — | uncertain significance |
| rs773886656 | 11:57,114,049 | G/A | — | uncertain significance |
| rs371705707 | 11:57,114,058 | A/G | — | uncertain significance |
| rs140615250 | 11:57,114,074 | C/T | — | uncertain significance |
| rs771408677 | 11:57,114,100 | G/A | — | uncertain significance |
| rs760931673 | 11:57,114,127 | G/A | — | uncertain significance |
| rs146469943 | 11:57,114,905 | G/A | — | uncertain significance |
| rs768112215 | 11:57,115,685 | C/T | — | uncertain significance |
| rs115850675 | 11:57,115,686 | G/A | — | benign |
| rs376233059 | 11:57,115,697 | A/G | — | uncertain significance |
| rs2495247933 | 11:57,115,708 | G/T | — | uncertain significance |
| rs1460276548 | 11:57,116,138 | A/G | — | uncertain significance |
| rs769245199 | 11:57,116,169 | A/G | — | uncertain significance |
| rs2495255451 | 11:57,117,253 | A/T | — | uncertain significance |
| rs200854727 | 11:57,118,202 | G/C | intron variant | — |
| rs371964035 | 11:57,118,236 | G/A | — | uncertain significance |
| rs997898597 | 11:57,118,263 | T/A | — | uncertain significance |
| rs772344531 | 11:57,118,294 | A/G | — | uncertain significance |
| rs183012090 | 11:57,135,545 | G/T | — | uncertain significance |
| rs201225476 | 11:57,135,547 | A/T | — | uncertain significance |
| rs570530884 | 11:57,135,888 | C/T | — | uncertain significance |
| rs77399385 | 11:57,136,824 | C/A | — | benign |
| rs2495337467 | 11:57,137,366 | A/T | — | uncertain significance |
| rs765276339 | 11:57,137,370 | C/T | — | uncertain significance |
| rs201360035 | 11:57,137,381 | G/A | — | likely benign |
| rs2495337793 | 11:57,137,388 | T/C | — | likely benign |
| rs143889563 | 11:57,137,445 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.