CTSG Gene - Cathepsin G
Serine protease with antimicrobial and immune regulatory functions
Gene Information Card
| Symbol | CTSG |
|---|---|
| Full Name | Cathepsin G |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 1511 ncbi.nlm.nih.gov/gene/1511 |
| Ensembl ID | ENSG00000100448 |
| UniProt ID | P08311 |
| OMIM ID | 118830 |
| HGNC ID | 2530 |
| Aliases | CG, CTSGL1, cathepsin G-like 1 |
Description
CTSG encodes cathepsin G, a serine protease stored in the azurophil granules of neutrophils. It plays a key role in microbial killing, inflammation, and tissue remodeling by cleaving extracellular matrix components and activating cytokines. The enzyme also modulates platelet activation and chemotaxis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic periodontitis | Increased CTSG activity contributes to tissue destruction | PMID: 20646111 |
| Neutrophil immunodeficiency syndrome | Loss-of-function mutations impair bacterial killing | ClinVar: RCV000009123 |
| Cystic fibrosis | Elevated CTSG in airway secretions correlates with inflammation | PMID: 22968465 |
| Rheumatoid arthritis | Cathepsin G degrades cartilage and activates IL-1β | PMID: 17053831 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Spleen | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Blood | 4.9 | Low |
| Liver | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HL-60 (promyeloblast) | 15.2 | Differentiation increases expression |
| U937 (monocyte) | 7.8 | Lower than neutrophils |
| THP-1 (monocyte) | 5.4 | Induced by PMA |
| K562 (erythroleukemia) | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely null allele |
| c.125G>A (p.Arg42His) | Missense | 0.02% | Reduced enzymatic activity |
| c.580C>T (p.Arg194*) | Nonsense | <0.01% | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense variants (e.g., p.Arg194*) reduce or abolish proteolytic activity, impairing neutrophil antimicrobial function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in CTSG.
Dominant Negative (DN)
Not described; CTSG functions as a monomer, and haploinsufficiency is the likely mechanism for loss-of-function alleles.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neutrophil degranulation (Reactome: R-HSA-6798695)
• Innate immune system (Reactome: R-HSA-168249)
• Degradation of extracellular matrix (Reactome: R-HSA-1474228)
Protein Summary
Cathepsin G is a 255-amino-acid serine protease (26 kDa) synthesized as a preproenzyme and processed to the active form in neutrophil azurophil granules. It has broad substrate specificity, cleaving after aromatic or hydrophobic residues. The enzyme is released upon neutrophil activation and contributes to pathogen killing, cytokine processing, and matrix degradation. Its activity is regulated by endogenous inhibitors such as serpins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CTSG Knockout HEK293 Cell Line | EDJ-KQ3413 | Human | 1511 | Details Get a Quote |
| CTSG Knockout HeLa Cell Line | EDJ-KQ53030 | Human | 1511 | Details Get a Quote |
| CTSG Knockout A-549 Cell Line | EDJ-KQ61494 | Human | 1511 | Details Get a Quote |
| CTSG Knockout HCT 116 Cell Line | EDJ-KQ69989 | Human | 1511 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
