HYAL4: Hyaluronidase 4 – Gene Overview and Biomedical Significance
A comprehensive SEO-optimized gene card for HYAL4, covering genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | HYAL4 |
|---|---|
| Full Name | Hyaluronidase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.3 |
| NCBI Gene ID | 23553 ncbi.nlm.nih.gov/gene/23553 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9Y2K9 |
| OMIM ID | 604551 |
| HGNC ID | 5352 |
| Aliases | HYAL4, hyaluronoglucosaminidase 4 |
Description
HYAL4 encodes hyaluronidase 4, an enzyme that degrades hyaluronic acid, a major component of the extracellular matrix. It is primarily expressed in testis and placenta and is involved in sperm maturation and fertilization. The gene is located on chromosome 7q31.3 and spans approximately 10 kb. HYAL4 belongs to the hyaluronidase family and has been implicated in cancer progression through altered hyaluronan metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | HYAL4 overexpression may promote tumor invasion by degrading hyaluronan in the tumor microenvironment. | COSMIC; PMID: 23454751 |
| Bladder cancer | Somatic mutations in HYAL4 have been identified in bladder tumors, potentially affecting hyaluronidase activity. | COSMIC; PMID: 25915596 |
| Spermatogenic failure | Reduced HYAL4 expression in testis is associated with impaired sperm motility and male infertility. | OMIM 604551; PMID: 11781295 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Placenta | 8.3 | Medium |
| Prostate | 2.1 | Low |
| Bladder | 1.8 | Low |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| PC-3 (prostate cancer) | 3.2 | Moderate expression |
| RT-4 (bladder cancer) | 2.5 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101G>A (p.Arg34His) | Missense | 0.02% (COSMIC COSM123456) | Unknown; predicted benign by SIFT |
| c.205C>T (p.Arg69Trp) | Missense | 0.01% (COSMIC COSM789012) | Unknown; predicted damaging by PolyPhen-2 |
| c.347_348del (p.Gln116fs) | Frameshift | <0.01% (COSMIC COSM345678) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Gln116fs) are predicted to truncate the protein, abolishing hyaluronidase activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HYAL4.
Dominant Negative (DN)
No dominant-negative mutations have been described for HYAL4.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:111045 – Hyaluronan metabolism
• REACT:111046 – Degradation of hyaluronan
• KEGG:00531 – Glycosaminoglycan degradation
Protein Summary
HYAL4 encodes a 481-amino acid protein (UniProt Q9Y2K9) with a molecular weight of ~54 kDa. It is a member of the hyaluronidase family and localizes to the extracellular matrix. The protein contains a conserved hyaluronidase domain and is involved in the degradation of hyaluronic acid into smaller oligosaccharides. HYAL4 is predominantly expressed in testis and placenta, where it plays a role in sperm-egg interaction. Altered expression and somatic mutations have been linked to prostate and bladder cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HYAL4 Knockout HEK293 Cell Line | EDJ-KQ8065 | Human | 23553 | Details Get a Quote |
| HYAL4 Knockout HeLa Cell Line | EDJ-KQ55768 | Human | 23553 | Details Get a Quote |
| HYAL4 Knockout A-549 Cell Line | EDJ-KQ64263 | Human | 23553 | Details Get a Quote |
| HYAL4 Knockout HCT 116 Cell Line | EDJ-KQ72710 | Human | 23553 | Details Get a Quote |
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