TIE1
tyrosine kinase with immunoglobulin like and EGF like domains 1
Summary
This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139907784 | 1:43,766,753 | G/A | — | uncertain significance |
| rs936948522 | 1:43,766,761 | C/G | — | uncertain significance |
| rs2545622830 | 1:43,770,576 | G/T | — | uncertain significance |
| rs760802772 | 1:43,770,671 | G/A | — | uncertain significance |
| rs1470398107 | 1:43,770,678 | C/A | — | uncertain significance |
| rs751560777 | 1:43,770,686 | G/A | — | uncertain significance |
| rs377315179 | 1:43,770,720 | A/T | — | uncertain significance |
| rs756575049 | 1:43,770,737 | G/A | — | uncertain significance |
| rs1646713019 | 1:43,770,741 | T/G | — | uncertain significance |
| rs1272367464 | 1:43,770,803 | A/G | — | uncertain significance |
| rs756923917 | 1:43,770,813 | T/C | — | uncertain significance |
| rs1195994022 | 1:43,770,964 | C/G | — | uncertain significance |
| rs775169820 | 1:43,770,985 | A/G | — | uncertain significance |
| rs201801618 | 1:43,771,013 | C/T | — | benign |
| rs74069551 | 1:43,771,880 | G/A | intron variant | — |
| rs1251080835 | 1:43,772,528 | C/G | — | uncertain significance |
| rs151325223 | 1:43,772,550 | A/T | — | uncertain significance |
| rs375448608 | 1:43,772,555 | C/T | — | uncertain significance |
| rs150406982 | 1:43,772,556 | G/A | — | uncertain significance |
| rs183910355 | 1:43,772,592 | C/T | — | uncertain significance |
| rs138189724 | 1:43,772,597 | G/A | — | uncertain significance |
| rs752557868 | 1:43,772,642 | G/A | — | uncertain significance |
| rs758194663 | 1:43,772,651 | C/T | — | uncertain significance |
| rs573341875 | 1:43,772,663 | C/T | — | uncertain significance |
| rs145046652 | 1:43,772,664 | G/A | — | uncertain significance |
| rs34084603 | 1:43,772,665 | G/A | — | benign |
| rs753706088 | 1:43,772,827 | C/T | — | uncertain significance |
| rs758340860 | 1:43,772,835 | G/T | — | likely benign |
| rs35033063 | 1:43,772,886 | C/T | — | benign |
| rs549585866 | 1:43,772,899 | G/A | — | uncertain significance |
| rs569440737 | 1:43,772,932 | C/T | — | uncertain significance |
| rs748212442 | 1:43,773,165 | C/T | — | uncertain significance |
| rs140478559 | 1:43,773,166 | G/A | — | uncertain significance |
| rs753932150 | 1:43,773,500 | G/A | — | uncertain significance |
| rs144377458 | 1:43,774,711 | C/T | — | uncertain significance |
| rs199715734 | 1:43,774,719 | C/T | — | uncertain significance |
| rs560279391 | 1:43,774,797 | C/T | — | uncertain significance |
| rs2282226 | 1:43,774,878 | C/A | — | — |
| rs1467879042 | 1:43,775,104 | G/A | — | uncertain significance |
| rs991879461 | 1:43,775,131 | A/T | — | uncertain significance |
| rs767153303 | 1:43,775,167 | G/C | — | uncertain significance |
| rs376549515 | 1:43,775,179 | C/T | — | uncertain significance |
| rs532252097 | 1:43,775,180 | G/A | — | uncertain significance |
| rs1646767885 | 1:43,775,191 | G/A | — | uncertain significance |
| rs181716929 | 1:43,775,197 | G/A | — | uncertain significance |
| rs56302794 | 1:43,777,350 | G/A | — | uncertain significance |
| rs375916915 | 1:43,777,408 | C/T | — | uncertain significance |
| rs140190628 | 1:43,777,417 | C/T | missense variant | — |
| rs139244400 | 1:43,777,449 | C/T | — | pathogenic |
| rs1379937330 | 1:43,777,453 | T/C | — | uncertain significance |
| rs754822483 | 1:43,777,712 | G/C | — | uncertain significance |
| rs141628049 | 1:43,777,725 | G/A | — | uncertain significance |
| rs540162952 | 1:43,777,767 | G/T | — | uncertain significance |
| rs936280067 | 1:43,778,017 | G/A | — | uncertain significance |
| rs376860690 | 1:43,778,077 | G/A | — | uncertain significance |
| rs144699870 | 1:43,778,122 | C/T | — | uncertain significance |
| rs757763280 | 1:43,778,159 | C/T | — | uncertain significance |
| rs1456500272 | 1:43,778,164 | C/G | — | uncertain significance |
| rs367890141 | 1:43,778,254 | G/A | — | uncertain significance |
| rs777663496 | 1:43,778,821 | G/A | — | uncertain significance |
| rs757244749 | 1:43,778,832 | G/A | — | uncertain significance |
| rs199565595 | 1:43,778,866 | C/T | — | uncertain significance |
| rs149631384 | 1:43,778,878 | C/T | — | uncertain significance |
| rs766220795 | 1:43,778,882 | G/C | — | uncertain significance |
| rs1179743788 | 1:43,778,909 | C/T | — | likely benign |
| rs780719092 | 1:43,778,935 | G/T | — | uncertain significance |
| rs140896272 | 1:43,778,988 | A/G | — | uncertain significance |
| rs200668680 | 1:43,778,994 | C/T | — | uncertain significance |
| rs779840101 | 1:43,779,006 | G/A | — | uncertain significance |
| rs1646820876 | 1:43,779,020 | C/T | — | likely benign |
| rs376014176 | 1:43,779,033 | C/T | — | uncertain significance |
| rs763748877 | 1:43,779,481 | C/T | — | uncertain significance |
| rs2545644390 | 1:43,779,487 | G/A | — | uncertain significance |
| rs142835682 | 1:43,779,534 | C/T | — | benign |
| rs764588397 | 1:43,779,613 | C/T | — | uncertain significance |
| rs1291743772 | 1:43,779,614 | G/T | — | uncertain significance |
| rs2991990 | 1:43,779,869 | T/G | intron variant | — |
| rs1419156573 | 1:43,782,871 | G/A | — | uncertain significance |
| rs549889183 | 1:43,782,919 | G/A | — | uncertain significance |
| rs139358114 | 1:43,782,957 | G/A | — | likely benign |
| rs770308111 | 1:43,782,987 | G/A | — | uncertain significance |
| rs143318072 | 1:43,783,021 | T/G | — | uncertain significance |
| rs2545650970 | 1:43,783,037 | G/C | — | uncertain significance |
| rs750537304 | 1:43,783,268 | C/T | — | uncertain significance |
| rs1447144564 | 1:43,783,619 | G/A | — | uncertain significance |
| rs565843841 | 1:43,783,649 | G/A | — | uncertain significance |
| rs761301914 | 1:43,785,018 | T/C | — | uncertain significance |
| rs374603504 | 1:43,786,969 | T/C | — | uncertain significance |
| rs146799667 | 1:43,787,301 | G/A | — | uncertain significance |
| rs948719231 | 1:43,787,318 | C/T | — | uncertain significance |
| rs34993202 | 1:43,787,367 | G/A | — | pathogenic |
| rs2545662050 | 1:43,788,321 | G/C | — | uncertain significance |
| rs2545662117 | 1:43,788,361 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.