HYAL3
hyaluronidase 3
Summary
This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782509137 | 3:50,330,694 | G/A | — | uncertain significance |
| rs1553710336 | 3:50,330,752 | G/C | — | uncertain significance |
| rs782798046 | 3:50,330,778 | C/T | — | uncertain significance |
| rs201429916 | 3:50,330,813 | C/G | — | uncertain significance |
| rs138609690 | 3:50,330,825 | C/T | — | uncertain significance |
| rs2470819438 | 3:50,331,071 | T/A | — | uncertain significance |
| rs148220193 | 3:50,331,101 | C/T | — | uncertain significance |
| rs781958143 | 3:50,332,154 | T/C | — | uncertain significance |
| rs781817037 | 3:50,332,177 | C/T | — | uncertain significance |
| rs782640572 | 3:50,332,325 | C/T | — | uncertain significance |
| rs782565194 | 3:50,332,339 | T/C | — | uncertain significance |
| rs2470821865 | 3:50,332,340 | G/A | — | uncertain significance |
| rs141285629 | 3:50,332,355 | G/A | — | uncertain significance |
| rs1174235196 | 3:50,332,375 | C/T | — | uncertain significance |
| rs142315421 | 3:50,332,378 | C/T | — | likely benign |
| rs1575497228 | 3:50,332,474 | A/C | — | uncertain significance |
| rs199964334 | 3:50,332,477 | C/A | — | uncertain significance |
| rs139756596 | 3:50,332,501 | C/T | missense variant | — |
| rs1158570850 | 3:50,332,502 | G/A | — | uncertain significance |
| rs370688249 | 3:50,332,507 | G/A | — | uncertain significance |
| rs782209399 | 3:50,332,559 | C/A | — | uncertain significance |
| rs915414128 | 3:50,332,565 | A/G | — | uncertain significance |
| rs146737984 | 3:50,332,606 | C/T | — | likely benign |
| rs782765787 | 3:50,332,609 | C/T | — | uncertain significance |
| rs1366618609 | 3:50,332,633 | A/G | — | uncertain significance |
| rs1186282939 | 3:50,332,666 | G/A | — | likely benign |
| rs782659618 | 3:50,332,852 | C/T | — | likely benign |
| rs782638116 | 3:50,332,876 | T/C | — | uncertain significance |
| rs372354815 | 3:50,332,900 | C/G | — | uncertain significance |
| rs782539890 | 3:50,332,949 | G/A | — | uncertain significance |
| rs1553710965 | 3:50,332,952 | C/T | — | uncertain significance |
| rs374864614 | 3:50,332,960 | T/C | — | uncertain significance |
| rs1175996324 | 3:50,332,972 | T/C | — | uncertain significance |
| rs201512291 | 3:50,334,462 | G/A | missense variant | Likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.