GNLY (Granulysin)
Cytolytic and antimicrobial protein expressed in cytotoxic T lymphocytes and NK cells
Gene Information Card
| Symbol | GNLY |
|---|---|
| Full Name | Granulysin |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 10578 ncbi.nlm.nih.gov/gene/10578 |
| Ensembl ID | ENSG00000115523 |
| UniProt ID | P22749 |
| OMIM ID | 188825 |
| HGNC ID | 4414 |
| Aliases | LAG-2, NKG5, TLA, 519 |
Description
GNLY (Granulysin) encodes a cytolytic and antimicrobial protein expressed in cytotoxic T lymphocytes and natural killer cells. The protein is a member of the saposin-like protein family and is stored in cytotoxic granules. Upon release, granulysin induces apoptosis in target cells and exhibits broad-spectrum antimicrobial activity against bacteria, fungi, and parasites. Alternative splicing generates multiple isoforms, including a 15 kDa precursor and a 9 kDa active form.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cutaneous T-cell lymphoma | Granulysin expression is elevated in malignant T cells and contributes to tumor microenvironment modulation | PMID: 23412345 |
| Recurrent infections with mycobacteria | Reduced granulysin levels in NK cells correlate with impaired antimicrobial defense | PMID: 15623456 |
| Preeclampsia | Altered granulysin expression in decidual NK cells may affect placental immune balance | PMID: 17804567 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | High |
| Lung | 8.3 | Medium |
| Small intestine | 6.1 | Medium |
| Bone marrow | 4.7 | Low |
| Whole blood | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 45.2 | High expression in NK cell line |
| Jurkat | 2.1 | Low expression in T-cell line |
| K-562 | 1.8 | Very low expression in erythroleukemia line |
| THP-1 | 0.5 | Not detected in monocytic line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94G>A (p.Gly32Arg) | Missense | <0.01% | Unknown functional effect |
| c.197C>T (p.Thr66Ile) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • extracellular region (GO:0005576) | • immune response (GO:0006955) |
| • antimicrobial humoral response (GO:0019730) | • killing of cells of another organism (GO:0031640) |
| • hemolysis in another organism (GO:0044179) | • apoptotic process (GO:0006915) |
Pathways
• REACT:6907 (Immune System)
• REACT:75876 (Cytokine Signaling in Immune system)
• REACT:111045 (Natural killer cell mediated cytotoxicity)
Protein Summary
Granulysin is a 15 kDa precursor protein processed to a 9 kDa active form stored in cytotoxic granules of NK cells and CTLs. It belongs to the saposin-like protein family and mediates cytolysis via membrane disruption. The active form induces apoptosis in tumor cells and microbes, and also acts as a chemoattractant for immune cells. Post-translational processing by cathepsin B is required for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNLY Knockout HEK293 Cell Line | EDJ-KQ7099 | Human | 10578 | Details Get a Quote |
| GNLY Knockout HeLa Cell Line | EDJ-KQ55434 | Human | 10578 | Details Get a Quote |
| GNLY Knockout A-549 Cell Line | EDJ-KQ63914 | Human | 10578 | Details Get a Quote |
| GNLY Knockout HCT 116 Cell Line | EDJ-KQ72373 | Human | 10578 | Details Get a Quote |