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.

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 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
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