HYAL2: Hyaluronidase 2 - Gene and Protein Overview
Comprehensive biomedical resource for HYAL2, including genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | HYAL2 |
|---|---|
| Full Name | Hyaluronidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 8692 ncbi.nlm.nih.gov/gene/8692 |
| Ensembl ID | ENSG00000168036 |
| UniProt ID | Q12891 |
| OMIM ID | 603551 |
| HGNC ID | 5322 |
| Aliases | LUCA2, PH-20, HYAL-2 |
Description
HYAL2 encodes a hyaluronidase enzyme that degrades hyaluronic acid, a major component of the extracellular matrix. It is involved in cell adhesion, migration, and proliferation. The gene is located on chromosome 3p21.31, a region frequently deleted in cancers. HYAL2 is also implicated in the entry of certain viruses, including human T-cell leukemia virus type 1 (HTLV-1).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyaluronidase deficiency | Loss of HYAL2 function leads to accumulation of hyaluronic acid, causing connective tissue abnormalities. | OMIM #603551 |
| Lung cancer | Frequent deletion of 3p21.31 region including HYAL2; reduced expression may promote tumor progression. | NCBI Gene; COSMIC |
| HTLV-1 infection | HYAL2 acts as a receptor for HTLV-1 entry into cells. | UniProt; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 9.8 | Moderate expression |
| HeLa (cervical carcinoma) | 5.4 | Low expression |
| MCF7 (breast carcinoma) | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.104C>T (p.Pro35Leu) | Missense | <0.1% | Unknown significance; rare variant |
| c.307G>A (p.Gly103Ser) | Missense | <0.1% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations in HYAL2 cause hyaluronidase deficiency, leading to accumulation of hyaluronic acid and connective tissue abnormalities.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HYAL2.
Dominant Negative (DN)
No dominant-negative mutations have been described for HYAL2.
View complete mutation data：
Gene Ontology (GO)
| • hyalurononglucosaminidase activity (GO:0004415) | • extracellular region (GO:0005576) |
| • plasma membrane (GO:0005886) | • cell adhesion (GO:0007155) |
| • hyaluronan catabolic process (GO:0030212) |
Pathways
• Hyaluronan metabolism (Reactome: R-HSA-2142850)
• Degradation of the extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
HYAL2 is a 473-amino acid protein with hyaluronidase activity, localized to the plasma membrane and extracellular space. It cleaves high-molecular-weight hyaluronic acid into intermediate fragments, which can signal through CD44 and other receptors. The protein is glycosylated and contains a conserved hyaluronidase domain. HYAL2 also functions as a receptor for HTLV-1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYAL2 Knockout HEK293 Cell Line | EDJ-KQ5631 | Human | 8692 | Details Get a Quote |
| HYAL2 Knockout A-549 Cell Line | EDJ-KQ30261 | Human | 8692 | Details Get a Quote |
| HYAL2 Knockout HCT 116 Cell Line | EDJ-KQ30262 | Human | 8692 | Details Get a Quote |
| HYAL2 Knockout HeLa Cell Line | EDJ-KQ30263 | Human | 8692 | Details Get a Quote |
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