HAS2 Gene (Hyaluronan Synthase 2)
Key enzyme in hyaluronan biosynthesis, involved in cell migration, proliferation, and cancer progression
Gene Information Card
| Symbol | HAS2 |
|---|---|
| Full Name | Hyaluronan Synthase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q24.13 |
| NCBI Gene ID | 3037 ncbi.nlm.nih.gov/gene/3037 |
| Ensembl ID | ENSG00000170961 |
| UniProt ID | Q92819 |
| OMIM ID | 601636 |
| HGNC ID | 4820 |
| Aliases | HAS2, hyaluronan synthase 2, hyaluronic acid synthase 2 |
Description
HAS2 encodes hyaluronan synthase 2, a transmembrane glycosyltransferase that synthesizes hyaluronan (hyaluronic acid), a major component of the extracellular matrix. Hyaluronan is involved in cell adhesion, migration, proliferation, and differentiation. HAS2 is upregulated in various cancers and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of HAS2 increases hyaluronan production, promoting tumor growth and metastasis | NCBI Gene, COSMIC |
| Ovarian cancer | HAS2 overexpression correlates with poor prognosis and chemoresistance | COSMIC, PubMed |
| Colorectal cancer | HAS2 upregulation enhances cell migration and invasion via hyaluronan-CD44 signaling | COSMIC, PubMed |
| Arthritis | Increased HAS2 expression in synovial fibroblasts contributes to joint inflammation | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 15.2 | Medium |
| Lung | 12.8 | Medium |
| Breast | 10.5 | Medium |
| Ovary | 8.3 | Low |
| Colon | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| A549 (lung cancer) | 14.2 | Medium expression |
| HeLa (cervical cancer) | 11.6 | Medium expression |
| HCT116 (colorectal cancer) | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <1% | Unknown functional impact |
| c.567C>T (p.Pro189Leu) | Missense | <1% | Unknown functional impact |
| c.890_891insA | Frameshift | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.890_891insA) are predicted to cause premature truncation and loss of enzyme activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003824 - catalytic activity | • GO:0005794 - Golgi apparatus |
| • GO:0005886 - plasma membrane | • GO:0016740 - transferase activity |
| • GO:0030203 - glycosaminoglycan biosynthetic process | • GO:0030212 - hyaluronan biosynthetic process |
Pathways
• Hyaluronan biosynthesis (Reactome: R-HSA-2142850)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• CD44-mediated signaling (KEGG: hsa04512)
Protein Summary
Hyaluronan synthase 2 (UniProt Q92819) is a 552-amino acid transmembrane protein localized to the plasma membrane. It catalyzes the addition of UDP-glucuronic acid and UDP-N-acetylglucosamine to growing hyaluronan chains. The protein has multiple transmembrane domains and a central cytoplasmic loop containing the catalytic site. Hyaluronan produced by HAS2 is critical for tissue homeostasis and is dysregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAS2 Knockout HEK293 Cell Line | EDJ-KQ4842 | Human | 3037 | Details Get a Quote |
| HAS2 Knockout A-549 Cell Line | EDJ-KQ27624 | Human | 3037 | Details Get a Quote |
| HAS2 Knockout HeLa Cell Line | EDJ-KQ27625 | Human | 3037 | Details Get a Quote |
| HAS2 Knockout HCT 116 Cell Line | EDJ-KQ70443 | Human | 3037 | Details Get a Quote |
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