HYAL4
hyaluronidase 4
Summary
This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12670684 | 7:123,405,942 | A/G | intergenic variant | — |
| rs2429616 | 7:123,406,034 | C/T | intergenic variant | — |
| rs12666411 | 7:123,406,061 | C/A | intergenic variant | — |
| rs112385417 | 7:123,410,525 | A/G | regulatory region variant | — |
| rs4731120 | 7:123,411,223 | A/C | intergenic variant | — |
| rs77844289 | 7:123,411,667 | T/C | regulatory region variant | — |
| rs77300440 | 7:123,411,910 | C/T | intergenic variant | — |
| rs79466937 | 7:123,416,273 | T/A | intergenic variant | — |
| rs666266 | 7:123,417,759 | A/G | intergenic variant | — |
| rs2429617 | 7:123,418,027 | A/G | intergenic variant | — |
| rs75759008 | 7:123,418,478 | A/G | intergenic variant | — |
| rs77972171 | 7:123,418,493 | C/T | intergenic variant | — |
| rs4547395 | 7:123,420,926 | C/G | — | — |
| rs12667832 | 7:123,423,587 | C/T | intergenic variant | — |
| rs725860 | 7:123,424,709 | T/C | intergenic variant | — |
| rs111754661 | 7:123,426,927 | T/C | downstream gene variant | — |
| rs2429621 | 7:123,430,316 | A/G | downstream gene variant | — |
| rs12056098 | 7:123,440,559 | A/G | intergenic variant | — |
| rs10243279 | 7:123,441,262 | T/A | intergenic variant | — |
| rs529334024 | 7:123,486,319 | G/C | — | — |
| rs116910128 | 7:123,486,472 | G/A | regulatory region variant | — |
| rs149431357 | 7:123,497,751 | C/G | intron variant | — |
| rs765479379 | 7:123,508,334 | G/A | — | uncertain significance |
| rs377431401 | 7:123,508,364 | G/A | — | uncertain significance |
| rs370808923 | 7:123,508,373 | C/T | — | uncertain significance |
| rs527652879 | 7:123,508,416 | A/C | — | uncertain significance |
| rs866770583 | 7:123,508,443 | G/C | — | uncertain significance |
| rs370390153 | 7:123,508,584 | A/G | — | uncertain significance |
| rs138492993 | 7:123,508,636 | A/T | — | likely benign |
| rs754927871 | 7:123,508,728 | C/T | — | uncertain significance |
| rs2485297763 | 7:123,508,778 | C/T | — | uncertain significance |
| rs113873003 | 7:123,508,854 | A/C | — | uncertain significance |
| rs779305355 | 7:123,508,924 | G/C | — | uncertain significance |
| rs372110160 | 7:123,508,956 | G/A | — | uncertain significance |
| rs755834982 | 7:123,509,085 | A/G | — | uncertain significance |
| rs746985654 | 7:123,509,253 | G/T | — | uncertain significance |
| rs534551352 | 7:123,514,833 | A/C | — | uncertain significance |
| rs774788379 | 7:123,514,860 | G/A | — | uncertain significance |
| rs749535436 | 7:123,514,894 | C/G | — | uncertain significance |
| rs150077532 | 7:123,516,944 | C/T | — | uncertain significance |
| rs141828412 | 7:123,516,947 | C/T | — | uncertain significance |
| rs1485657995 | 7:123,517,009 | A/G | — | uncertain significance |
| rs2485314281 | 7:123,517,027 | T/G | — | uncertain significance |
| rs770834740 | 7:123,517,115 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.