CHIA
Chitinase, Acidic
Gene Information Card
| Symbol | CHIA |
|---|---|
| Full Name | Chitinase, Acidic |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.2 |
| NCBI Gene ID | 27159 ncbi.nlm.nih.gov/gene/27159 |
| Ensembl ID | ENSG00000116819 |
| UniProt ID | Q9BZP6 |
| OMIM ID | 606080 |
| HGNC ID | 1932 |
| Aliases | AMCase, CHIT2, TSA1902 |
Description
The CHIA gene encodes acidic mammalian chitinase (AMCase), an enzyme that hydrolyzes chitin, a structural polysaccharide found in fungi, parasites, and insects. It is expressed in the stomach, lungs, and macrophages, and plays a role in innate immunity, allergic inflammation, and asthma. CHIA is also implicated in gastric cancer and other inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asthma | CHIA overexpression in airway epithelium and macrophages contributes to Th2 inflammation and airway remodeling via chitin degradation products | NCBI Gene, OMIM |
| Allergic rhinitis | Genetic variants in CHIA are associated with increased risk of allergic rhinitis and elevated IgE levels | OMIM, ClinVar |
| Gastric cancer | CHIA expression is upregulated in gastric cancer tissues and may promote tumor progression through chitinase activity | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Stomach | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Spleen | 4.1 | Low |
| Small intestine | 3.9 | Low |
| Esophagus | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.2 | Detectable |
| MCF7 (breast cancer) | 2.1 | Low |
| HepG2 (hepatocellular carcinoma) | 1.5 | Low |
| THP-1 (monocyte) | 7.8 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3806448 (c.354G>A) | SNP | 0.15 (East Asian) | Missense; associated with asthma risk |
| rs2292318 (c.495C>T) | SNP | 0.22 (European) | Synonymous; linked to allergic rhinitis |
| c.1A>G (p.Met1Val) | Missense | <0.01 | Start codon loss; loss of function |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1Val) disrupts translation initiation, leading to absent or truncated protein.
Gain of Function (GOF)
Not reported in CHIA.
Dominant Negative (DN)
Not reported in CHIA.
View complete mutation data：
Gene Ontology (GO)
| • chitinase activity | • chitin binding |
| • carbohydrate metabolic process | • defense response to fungus |
| • inflammatory response | • extracellular region |
Pathways
• Chitin degradation
• Innate immune response
• Th2 cytokine signaling
Protein Summary
Acidic mammalian chitinase (AMCase) is a 50 kDa secreted enzyme that cleaves chitin polymers. It contains a glycosyl hydrolase family 18 domain and is active at acidic pH. AMCase is produced by epithelial cells and macrophages, and its expression is induced by IL-13 and other Th2 cytokines. The enzyme modulates immune responses by generating chitin fragments that activate pattern recognition receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHIA Knockout HEK293 Cell Line | EDJ-KQ8702 | Human | 27159 | Details Get a Quote |
| CHIA Knockout HeLa Cell Line | EDJ-KQ56019 | Human | 27159 | Details Get a Quote |
| CHIA Knockout A-549 Cell Line | EDJ-KQ64504 | Human | 27159 | Details Get a Quote |
| CHIA Knockout HCT 116 Cell Line | EDJ-KQ72962 | Human | 27159 | Details Get a Quote |
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