ULBP1
UL16 binding protein 1
Summary
The protein encoded by this gene is a ligand of natural killer group 2, member D (NKG2D), an immune system-activating receptor on NK cells and T-cells. Binding of the encoded ligand to NKG2D leads to activation of several signal transduction pathways, including those of JAK2, STAT5, ERK and PI3K kinase/Akt. Also, in cytomegalovirus-infected cells, this ligand binds the UL16 glycoprotein and is prevented from activating the immune system. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs770243422 | 6:150,285,196 | C/T | — | uncertain significance |
| rs530612342 | 6:150,285,198 | G/T | — | uncertain significance |
| rs140736632 | 6:150,285,205 | C/G | — | uncertain significance |
| rs61742424 | 6:150,285,262 | G/A | — | benign |
| rs76968226 | 6:150,288,009 | G/A | intron variant | — |
| rs4870163 | 6:150,289,707 | C/T | regulatory region variant | — |
| rs1167718174 | 6:150,289,806 | G/A | — | uncertain significance |
| rs575290293 | 6:150,289,834 | G/C | — | uncertain significance |
| rs73614652 | 6:150,289,867 | G/A | — | benign |
| rs1242629871 | 6:150,289,871 | A/C | — | uncertain significance |
| rs753208391 | 6:150,289,883 | T/A | — | uncertain significance |
| rs998798188 | 6:150,289,971 | T/A | — | uncertain significance |
| rs781415440 | 6:150,290,241 | A/G | — | uncertain significance |
| rs369005799 | 6:150,290,274 | G/A | — | uncertain significance |
| rs74701618 | 6:150,290,302 | A/G | — | benign |
| rs377724434 | 6:150,290,311 | A/C | — | likely benign |
| rs371394950 | 6:150,290,312 | G/T | — | uncertain significance |
| rs1026360287 | 6:150,290,325 | G/C | — | uncertain significance |
| rs749502346 | 6:150,290,332 | A/G | — | uncertain significance |
| rs762665021 | 6:150,290,354 | T/A | — | likely benign |
| rs191691608 | 6:150,290,371 | A/T | — | benign |
| rs758759536 | 6:150,290,379 | G/C | — | uncertain significance |
| rs79289905 | 6:150,290,398 | G/T | — | uncertain significance |
| rs368078264 | 6:150,290,407 | C/A | — | uncertain significance |
| rs773180865 | 6:150,290,414 | C/A | — | uncertain significance |
| rs759496212 | 6:150,290,446 | T/C | — | likely benign |
| rs765381935 | 6:150,290,447 | G/A | — | uncertain significance |
| rs757651192 | 6:150,290,459 | A/C | — | uncertain significance |
| rs373809112 | 6:150,290,468 | G/A | — | uncertain significance |
| rs115336002 | 6:150,291,189 | G/A | — | benign |
| rs749242801 | 6:150,291,208 | A/C | — | uncertain significance |
| rs761936166 | 6:150,291,220 | C/A | — | uncertain significance |
| rs2483068307 | 6:150,291,227 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.