P2RX5
purinergic receptor P2X 5
Summary
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs185353702 | 17:3,582,878 | C/T | — | likely benign |
| rs146599669 | 17:3,582,949 | C/T | — | likely benign |
| rs143635286 | 17:3,583,041 | C/T | — | uncertain significance |
| rs143675939 | 17:3,583,059 | G/A | — | benign |
| rs2050187455 | 17:3,583,062 | A/C | — | likely benign |
| rs368497569 | 17:3,583,449 | T/G | — | — |
| rs368454045 | 17:3,585,135 | A/G | intron variant | — |
| rs2050294971 | 17:3,585,197 | C/T | — | uncertain significance |
| rs1131057 | 17:3,585,200 | C/T | — | uncertain significance |
| rs368802913 | 17:3,585,215 | G/A | — | uncertain significance |
| rs144426111 | 17:3,585,255 | G/T | — | uncertain significance |
| rs556456151 | 17:3,591,311 | C/G | — | uncertain significance |
| rs764541647 | 17:3,591,338 | C/T | — | uncertain significance |
| rs148409834 | 17:3,591,344 | C/T | — | uncertain significance |
| rs745382034 | 17:3,591,377 | C/T | — | uncertain significance |
| rs140129051 | 17:3,591,383 | G/A | — | uncertain significance |
| rs919816099 | 17:3,591,966 | G/C | — | uncertain significance |
| rs751030228 | 17:3,592,047 | C/T | — | uncertain significance |
| rs1333699609 | 17:3,592,829 | A/C | — | uncertain significance |
| rs756212968 | 17:3,592,835 | C/A | — | uncertain significance |
| rs1286325451 | 17:3,592,900 | G/C | — | uncertain significance |
| rs143709684 | 17:3,593,389 | G/A | — | uncertain significance |
| rs776463411 | 17:3,593,416 | A/C | — | uncertain significance |
| rs2050579370 | 17:3,593,722 | C/G | — | uncertain significance |
| rs775894894 | 17:3,593,737 | T/A | — | uncertain significance |
| rs2507570432 | 17:3,593,776 | T/C | — | uncertain significance |
| rs777892803 | 17:3,593,802 | C/T | — | uncertain significance |
| rs779710092 | 17:3,593,914 | C/T | — | uncertain significance |
| rs369632150 | 17:3,593,935 | C/T | — | uncertain significance |
| rs201754724 | 17:3,593,953 | C/T | — | uncertain significance |
| rs141190380 | 17:3,593,965 | T/C | — | uncertain significance |
| rs754263355 | 17:3,594,261 | C/T | — | uncertain significance |
| rs746415770 | 17:3,594,270 | G/A | — | uncertain significance |
| rs747250428 | 17:3,594,281 | G/A | — | uncertain significance |
| rs762770580 | 17:3,594,292 | G/T | — | uncertain significance |
| rs374811457 | 17:3,594,312 | C/A | — | uncertain significance |
| rs370023355 | 17:3,594,315 | T/A | — | uncertain significance |
| rs539386358 | 17:3,594,942 | G/A | — | uncertain significance |
| rs776345541 | 17:3,594,952 | C/T | — | uncertain significance |
| rs142264131 | 17:3,594,990 | G/A | — | uncertain significance |
| rs61731589 | 17:3,595,009 | C/T | — | conflicting classifications of pathogenicity |
| rs376763585 | 17:3,595,051 | C/A | — | uncertain significance |
| rs558974497 | 17:3,597,643 | C/T | — | — |
| rs748659735 | 17:3,599,202 | T/G | — | uncertain significance |
| rs764662654 | 17:3,599,258 | G/T | — | uncertain significance |
| rs150710658 | 17:3,601,064 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.