HYAL2 Chromosome 3
Hyaluronidase 2
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What This Gene Does
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]
Gene Info
Gene Group
Hyaluronidases
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000068001
Associated Conditions (3)
HYAL2-related disorder
Muggenthaler-Chowdhury-Chioza syndrome
HYAL2 deficiency
Key Variants
RS142405670
Conflicting classifications of pathogenicity
HYAL2-related disorder, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS1321268291
Likely pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS1553715895
Likely pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS2109324707
Likely pathogenic
HYAL2 deficiency, HYAL2 deficiency
Health Risk
RS139960719
Pathogenic
HYAL2 deficiency, HYAL2 deficiency
Health Risk
RS1553716439
Pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS2109322411
Pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS2109324483
Pathogenic/Likely pathogenic
Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome
Health Risk
RS781999115
Pathogenic/Likely pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS782642246
Pathogenic/Likely pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
RS782682203
Pathogenic/Likely pathogenic
HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142405670 | Health Risk | Conflicting classifications of pathogenicity | HYAL2-related disorder, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS1321268291 | Health Risk | Likely pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS1553715895 | Health Risk | Likely pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS2109324707 | Health Risk | Likely pathogenic | HYAL2 deficiency, HYAL2 deficiency |
| RS139960719 | Health Risk | Pathogenic | HYAL2 deficiency, HYAL2 deficiency |
| RS1553716439 | Health Risk | Pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS2109322411 | Health Risk | Pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS2109324483 | Health Risk | Pathogenic/Likely pathogenic | Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome |
| RS781999115 | Health Risk | Pathogenic/Likely pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS782642246 | Health Risk | Pathogenic/Likely pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |
| RS782682203 | Health Risk | Pathogenic/Likely pathogenic | HYAL2 deficiency, Muggenthaler-Chowdhury-Chioza syndrome, HYAL2 deficiency |