HYAL2
hyaluronidase 2
Summary
This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5' UTR.[provided by RefSeq, Mar 2010]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1202712792 | 3:50,355,570 | C/A | — | uncertain significance |
| rs374329099 | 3:50,355,585 | G/A | — | uncertain significance |
| rs2470873182 | 3:50,355,591 | A/T | — | uncertain significance |
| rs373307469 | 3:50,355,631 | C/T | — | uncertain significance |
| rs139960719 | 3:50,355,709 | A/C | — | pathogenic |
| rs35455589 | 3:50,355,730 | T/G | — | benign |
| rs587707385 | 3:50,355,764 | C/G | — | uncertain significance |
| rs781994735 | 3:50,355,782 | A/G | — | likely benign |
| rs150004751 | 3:50,355,818 | A/G | — | likely benign |
| rs368917708 | 3:50,355,819 | T/C | — | uncertain significance |
| rs1472320415 | 3:50,355,847 | G/A | — | uncertain significance |
| rs1553715895 | 3:50,355,850 | G/A | — | likely pathogenic |
| rs782372348 | 3:50,355,883 | G/A | — | likely benign |
| rs139202918 | 3:50,355,912 | T/C | — | uncertain significance |
| rs928182995 | 3:50,355,916 | C/T | — | uncertain significance |
| rs782689985 | 3:50,356,387 | C/T | — | uncertain significance |
| rs149454549 | 3:50,356,405 | C/T | — | likely benign |
| rs782662334 | 3:50,356,433 | G/A | — | uncertain significance |
| rs140376758 | 3:50,356,435 | G/A | — | likely benign |
| rs369928347 | 3:50,356,458 | T/C | — | uncertain significance |
| rs201694655 | 3:50,356,463 | G/A | — | uncertain significance |
| rs147838410 | 3:50,356,693 | C/T | downstream gene variant | — |
| rs200605096 | 3:50,357,013 | G/A | — | uncertain significance |
| rs587688644 | 3:50,357,037 | C/T | — | uncertain significance |
| rs782682203 | 3:50,357,038 | G/A | — | pathogenic |
| rs373966676 | 3:50,357,071 | C/T | — | uncertain significance |
| rs142405670 | 3:50,357,092 | G/A | — | conflicting classifications of pathogenicity |
| rs1050074 | 3:50,357,136 | C/T | — | uncertain significance |
| rs184202689 | 3:50,357,168 | A/G | — | benign |
| rs781999115 | 3:50,357,172 | G/A | missense variant | pathogenic |
| rs200201922 | 3:50,357,184 | G/A | — | uncertain significance |
| rs2109324483 | 3:50,357,208 | A/C | — | pathogenic |
| rs781891669 | 3:50,357,217 | T/C | — | uncertain significance |
| rs782534238 | 3:50,357,223 | G/T | — | uncertain significance |
| rs374137877 | 3:50,357,244 | C/T | — | uncertain significance |
| rs199656869 | 3:50,357,245 | G/A | — | uncertain significance |
| rs2109324707 | 3:50,357,310 | C/G | — | likely pathogenic |
| rs1553716285 | 3:50,357,316 | A/C | — | uncertain significance |
| rs375930599 | 3:50,357,317 | G/A | — | uncertain significance |
| rs782302544 | 3:50,357,323 | G/A | — | uncertain significance |
| rs78532114 | 3:50,357,330 | C/T | — | likely benign |
| rs782142811 | 3:50,357,377 | C/T | — | uncertain significance |
| rs2470877197 | 3:50,357,379 | A/C | — | uncertain significance |
| rs1321268291 | 3:50,357,478 | T/C | — | likely pathogenic |
| rs111929697 | 3:50,357,498 | C/G | — | uncertain significance |
| rs782480016 | 3:50,357,568 | T/C | — | uncertain significance |
| rs1702653471 | 3:50,357,571 | A/G | — | uncertain significance |
| rs2470877730 | 3:50,357,605 | G/A | — | uncertain significance |
| rs1553716439 | 3:50,357,727 | G/C | — | pathogenic |
| rs782642246 | 3:50,357,731 | C/T | — | pathogenic |
| rs373163483 | 3:50,357,753 | G/T | — | uncertain significance |
| rs782718260 | 3:50,357,806 | C/T | — | uncertain significance |
| rs709210 | 3:50,357,869 | C/A | — | benign |
| rs782089963 | 3:50,357,914 | C/G | — | uncertain significance |
| rs7629425 | 3:50,357,929 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.