TPCN2
two pore segment channel 2
Summary
This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4930642 | 11:68,816,370 | A/G | regulatory region variant | — |
| rs1369232425 | 11:68,816,481 | G/A | — | uncertain significance |
| rs560758371 | 11:68,816,482 | C/T | — | uncertain significance |
| rs1213907599 | 11:68,816,492 | G/T | — | uncertain significance |
| rs753794712 | 11:68,816,533 | C/T | — | uncertain significance |
| rs72917317 | 11:68,817,441 | T/G | intron variant | — |
| rs117197680 | 11:68,820,006 | G/A | intron variant | — |
| rs371141244 | 11:68,821,506 | G/T | — | uncertain significance |
| rs11604928 | 11:68,821,550 | C/T | — | likely benign |
| rs12285715 | 11:68,821,648 | G/T | — | — |
| rs6591367 | 11:68,821,947 | T/C | intron variant | — |
| rs770457555 | 11:68,822,208 | G/A | — | uncertain significance |
| rs769331767 | 11:68,822,223 | C/T | — | uncertain significance |
| rs116332684 | 11:68,822,255 | G/A | — | benign |
| rs78455795 | 11:68,822,264 | C/T | — | benign |
| rs115204200 | 11:68,822,658 | C/T | — | benign |
| rs2495374616 | 11:68,822,702 | C/T | — | uncertain significance |
| rs2134520566 | 11:68,822,704 | C/G | — | uncertain significance |
| rs372815048 | 11:68,822,717 | C/T | — | uncertain significance |
| rs768909741 | 11:68,822,770 | A/T | — | uncertain significance |
| rs148360443 | 11:68,825,058 | G/A | — | uncertain significance |
| rs763474576 | 11:68,825,095 | G/A | — | uncertain significance |
| rs371461781 | 11:68,825,151 | G/A | — | uncertain significance |
| rs200402849 | 11:68,825,166 | G/C | — | likely benign |
| rs755760 | 11:68,827,175 | T/A | intron variant | — |
| rs1303455703 | 11:68,830,377 | G/A | — | uncertain significance |
| rs554622608 | 11:68,830,385 | T/C | — | uncertain significance |
| rs1248921129 | 11:68,830,401 | C/T | — | uncertain significance |
| rs755559373 | 11:68,830,440 | C/T | — | uncertain significance |
| rs1342993135 | 11:68,830,454 | G/T | — | uncertain significance |
| rs11228472 | 11:68,831,293 | C/A | — | — |
| rs72928978 | 11:68,831,364 | A/G | — | benign |
| rs374995591 | 11:68,831,379 | G/T | — | uncertain significance |
| rs116405128 | 11:68,831,420 | G/A | — | benign |
| rs572573445 | 11:68,831,537 | G/A | — | — |
| rs1274319510 | 11:68,834,972 | A/G | — | uncertain significance |
| rs370975728 | 11:68,835,017 | T/C | — | uncertain significance |
| rs148467810 | 11:68,835,023 | A/G | — | uncertain significance |
| rs10750840 | 11:68,835,182 | T/A | intron variant | — |
| rs375141159 | 11:68,837,910 | C/T | — | uncertain significance |
| rs966120948 | 11:68,837,931 | A/G | — | uncertain significance |
| rs543282845 | 11:68,837,957 | G/A | — | uncertain significance |
| rs9666135 | 11:68,838,471 | C/T | — | — |
| rs373597027 | 11:68,838,874 | C/T | — | uncertain significance |
| rs150335100 | 11:68,838,878 | G/T | — | uncertain significance |
| rs573415991 | 11:68,839,421 | C/T | — | uncertain significance |
| rs3750965 | 11:68,840,160 | A/C | missense variant | — |
| rs138388668 | 11:68,840,390 | G/A | — | likely benign |
| rs2495479707 | 11:68,840,411 | T/C | — | uncertain significance |
| rs758261604 | 11:68,840,452 | A/G | — | uncertain significance |
| rs7102709 | 11:68,841,571 | A/G | intron variant | — |
| rs575833336 | 11:68,843,164 | C/T | — | — |
| rs61881027 | 11:68,844,043 | G/C | — | — |
| rs56173805 | 11:68,844,045 | T/G | — | — |
| rs776272833 | 11:68,845,965 | G/A | — | uncertain significance |
| rs775394380 | 11:68,845,972 | A/G | — | likely benign |
| rs751510479 | 11:68,845,978 | C/T | — | uncertain significance |
| rs377275836 | 11:68,845,992 | G/A | — | uncertain significance |
| rs35398830 | 11:68,846,015 | C/T | — | benign |
| rs148836538 | 11:68,846,024 | C/G | — | uncertain significance |
| rs767412783 | 11:68,846,043 | G/A | — | uncertain significance |
| rs375287785 | 11:68,846,242 | G/A | — | uncertain significance |
| rs745694186 | 11:68,846,247 | G/A | — | uncertain significance |
| rs761126250 | 11:68,846,372 | G/A | — | uncertain significance |
| rs35264875 | 11:68,846,399 | A/T | missense variant | association |
| rs138440805 | 11:68,846,456 | G/A | — | uncertain significance |
| rs141343677 | 11:68,846,477 | G/A | — | likely benign |
| rs2495531414 | 11:68,848,897 | T/C | — | uncertain significance |
| rs867533490 | 11:68,848,908 | A/G | — | uncertain significance |
| rs34510004 | 11:68,848,916 | G/A | missense variant | — |
| rs144686467 | 11:68,848,931 | C/T | — | benign |
| rs148079137 | 11:68,848,939 | G/A | — | uncertain significance |
| rs200657180 | 11:68,848,947 | C/T | — | uncertain significance |
| rs1328722210 | 11:68,851,456 | A/G | — | uncertain significance |
| rs1360401958 | 11:68,851,461 | C/T | — | uncertain significance |
| rs1263924635 | 11:68,851,465 | C/T | — | uncertain significance |
| rs747004180 | 11:68,852,726 | G/A | — | uncertain significance |
| rs763686175 | 11:68,853,147 | C/T | — | uncertain significance |
| rs2495555624 | 11:68,853,183 | A/G | — | uncertain significance |
| rs201724061 | 11:68,853,312 | G/A | — | likely benign |
| rs1856284512 | 11:68,854,010 | G/C | — | uncertain significance |
| rs78034812 | 11:68,854,029 | C/T | — | benign |
| rs267603153 | 11:68,854,620 | C/T | missense variant | — |
| rs267603154 | 11:68,854,621 | C/T | synonymous variant | — |
| rs369041533 | 11:68,854,658 | G/A | — | uncertain significance |
| rs1551305 | 11:68,855,233 | G/T | — | — |
| rs370966067 | 11:68,855,362 | G/A | — | likely benign |
| rs3829241 | 11:68,855,363 | G/A | missense variant | association |
Gene information from NCBI Gene. Variant classifications from ClinVar.