CHI3L2 Gene - Chitinase 3 Like 2
Comprehensive genomic and functional analysis of CHI3L2, a chitinase-like protein involved in inflammation and cancer.
Gene Information Card
| Symbol | CHI3L2 |
|---|---|
| Full Name | Chitinase 3 Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 1117 ncbi.nlm.nih.gov/gene/1117 |
| Ensembl ID | ENSG00000164821 |
| UniProt ID | Q15782 |
| OMIM ID | 601525 |
| HGNC ID | 1933 |
| Aliases | YKL-39, CHI3L2, YKL39 |
Description
CHI3L2 (Chitinase 3 Like 2) encodes a member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity due to a mutation in the active site but is involved in extracellular matrix remodeling, inflammation, and immune responses. It is secreted by chondrocytes, synovial cells, and macrophages, and is upregulated in osteoarthritis, rheumatoid arthritis, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Upregulated in chondrocytes; contributes to cartilage degradation and inflammation. | PubMed, NCBI Gene |
| Rheumatoid Arthritis | Elevated in synovial fluid; associated with joint inflammation and matrix remodeling. | PubMed, UniProt |
| Glioblastoma | Overexpressed in tumor tissues; promotes cell proliferation and invasion. | COSMIC, PubMed |
| Breast Cancer | High expression correlates with poor prognosis; involved in metastasis. | COSMIC, PubMed |
| Colorectal Cancer | Upregulated; associated with tumor progression and immune evasion. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 9.8 | Medium |
| Bone Marrow | 7.2 | Low |
| Cartilage | 15.3 | High |
| Synovium | 18.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Embryonic kidney; moderate expression |
| A549 | 14.2 | Lung carcinoma; high expression |
| U87MG | 20.3 | Glioblastoma; very high expression |
| MCF7 | 6.1 | Breast cancer; low expression |
| THP-1 | 11.7 | Monocytic leukemia; high expression after stimulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | <0.01% | Unknown; likely benign |
| c.245C>T (p.Thr82Met) | Missense | <0.01% | Unknown; likely benign |
| c.512A>G (p.Asn171Ser) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CHI3L2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0004553) | • extracellular space (GO:0005615) |
| • inflammatory response (GO:0006954) | • collagen catabolic process (GO:0030574) |
| • extracellular region (GO:0005576) |
Pathways
• Chitin degradation (KEGG: map00520)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
CHI3L2 (YKL-39) is a 39 kDa secreted glycoprotein belonging to the chitinase-like protein family. It lacks enzymatic chitinase activity due to a critical active-site mutation but retains carbohydrate-binding properties. The protein is involved in extracellular matrix remodeling, inflammation, and cell proliferation. It is highly expressed in cartilage, synovium, and certain cancers, where it may serve as a biomarker or therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHI3L2 Knockout HEK293 Cell Line | EDJ-KQ4265 | Human | 1117 | Details Get a Quote |
| CHI3L2 Knockout HeLa Cell Line | EDJ-KQ52892 | Human | 1117 | Details Get a Quote |
| CHI3L2 Knockout A-549 Cell Line | EDJ-KQ61360 | Human | 1117 | Details Get a Quote |
| CHI3L2 Knockout HCT 116 Cell Line | EDJ-KQ69857 | Human | 1117 | Details Get a Quote |
