HAVCR2
hepatitis A virus cellular receptor 2
Summary
The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4704846 | 5:156,513,344 | G/C | — | — |
| rs146979399 | 5:156,514,125 | A/G | — | likely benign |
| rs767274710 | 5:156,514,186 | T/A | — | uncertain significance |
| rs72805186 | 5:156,514,189 | G/A | — | benign |
| rs150223677 | 5:156,514,209 | G/A | — | likely benign |
| rs138681649 | 5:156,514,243 | C/T | — | conflicting classifications of pathogenicity |
| rs755156589 | 5:156,514,244 | G/A | — | uncertain significance |
| rs115249274 | 5:156,514,315 | T/C | — | likely benign |
| rs140201248 | 5:156,522,370 | C/G | — | likely benign |
| rs1757080689 | 5:156,522,379 | A/G | — | uncertain significance |
| rs762090318 | 5:156,522,443 | G/A | — | uncertain significance |
| rs1757083456 | 5:156,522,471 | C/T | — | uncertain significance |
| rs190211816 | 5:156,524,672 | G/A | intron variant | — |
| rs773490052 | 5:156,525,875 | A/T | — | uncertain significance |
| rs763127709 | 5:156,525,876 | T/C | — | uncertain significance |
| rs73815925 | 5:156,525,879 | A/G | — | benign |
| rs182081536 | 5:156,525,882 | T/A | — | uncertain significance |
| rs6873659 | 5:156,529,852 | A/G | upstream gene variant | — |
| rs6874178 | 5:156,530,149 | A/G | — | — |
| rs919744 | 5:156,531,254 | G/A | — | — |
| rs2902306 | 5:156,531,561 | C/T | — | benign |
| rs1036199 | 5:156,531,736 | C/A | missense variant | benign |
| rs781765053 | 5:156,531,737 | G/A | — | uncertain significance |
| rs1036200 | 5:156,531,865 | A/G | — | benign |
| rs1964377 | 5:156,532,235 | C/A | intron variant | — |
| rs7442742 | 5:156,532,236 | T/C | intron variant | — |
| rs4704737 | 5:156,533,219 | A/G | intron variant | — |
| rs2480412154 | 5:156,533,647 | T/C | — | uncertain significance |
| rs773895230 | 5:156,533,683 | T/G | — | conflicting classifications of pathogenicity |
| rs367701067 | 5:156,533,700 | C/T | — | uncertain significance |
| rs190484372 | 5:156,533,713 | T/A | — | likely benign |
| rs147827860 | 5:156,533,730 | G/A | — | benign |
| rs35960726 | 5:156,533,741 | T/C | missense variant | pathogenic |
| rs184868814 | 5:156,533,787 | T/C | — | conflicting classifications of pathogenicity |
| rs768093433 | 5:156,533,887 | C/T | — | uncertain significance |
| rs763316244 | 5:156,533,905 | C/G | — | uncertain significance |
| rs41283181 | 5:156,533,915 | G/T | — | uncertain significance |
| rs2480412815 | 5:156,533,926 | G/T | — | uncertain significance |
| rs147605860 | 5:156,533,949 | G/A | — | likely benign |
| rs10515746 | 5:156,536,568 | A/T | — | — |
| rs10053538 | 5:156,537,510 | C/T | — | — |
| rs200181745 | 5:156,537,616 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.