NKG7: Natural Killer Cell Granule Protein 7
A key effector molecule in cytotoxic lymphocyte granules, involved in immune cell degranulation and anti-tumor immunity.
Gene Information Card
| Symbol | NKG7 |
|---|---|
| Full Name | Natural Killer Cell Granule Protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 4818 ncbi.nlm.nih.gov/gene/4818 |
| Ensembl ID | ENSG00000105374 |
| UniProt ID | Q16617 |
| OMIM ID | 606008 |
| HGNC ID | 7830 |
| Aliases | GIG1, GMP-17, P15-TIA-1 |
Description
NKG7 (Natural Killer Cell Granule Protein 7) encodes a transmembrane protein localized to cytotoxic granules in natural killer (NK) cells and cytotoxic T lymphocytes. It is essential for granule exocytosis and target cell killing. NKG7 is also expressed in platelets and mast cells, where it may regulate degranulation. The protein contains a single transmembrane domain and is involved in immune synapse formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | NKG7 expression correlates with cytotoxic immune infiltration; loss of NKG7 impairs anti-tumor immunity | PMID: 30559380, COSMIC |
| Viral infections | NKG7 deficiency reduces NK cell and CD8+ T cell cytotoxicity against infected cells | PMID: 30559380 |
| Autoimmune diseases | Altered NKG7 expression in T cells may contribute to dysregulated immune responses | ClinVar, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 45.2 | High |
| Lung | 12.8 | Medium |
| Bone marrow | 8.5 | Medium |
| Blood | 6.3 | Low |
| Lymph node | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 (NK cell) | 78.4 | High expression; functional role in degranulation |
| Jurkat (T cell) | 22.1 | Moderate expression |
| K562 (leukemia) | 1.2 | Low expression |
| HeLa (cervical) | 0.5 | 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% | Potential loss of start codon; likely loss of function |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Unknown significance; not in COSMIC |
| c.205G>A (p.Gly69Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC; predicted loss-of-function variants are rare.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • integral component of membrane (GO:0016021) |
| • secretory granule (GO:0030141) | • natural killer cell mediated cytotoxicity (GO:0042267) |
| • natural killer cell differentiation (GO:0001779) | • apoptotic process (GO:0006915) |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• T cell receptor signaling pathway (KEGG hsa04660)
• Immune system (Reactome R-HSA-168256)
Protein Summary
NKG7 is a 25 kDa transmembrane protein predominantly expressed in cytotoxic granules of NK cells and CD8+ T cells. It contains a short N-terminal cytoplasmic domain and a C-terminal extracellular domain. During immune synapse formation, NKG7 redistributes to the plasma membrane and facilitates granule docking and fusion. Knockout studies in mice show impaired degranulation and reduced cytotoxicity against tumor cells. NKG7 also interacts with SNARE proteins to regulate exocytosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NKG7 Knockout HEK293 Cell Line | EDJ-KQ5347 | Human | 4818 | Details Get a Quote |
| NKG7 Knockout HeLa Cell Line | EDJ-KQ53994 | Human | 4818 | Details Get a Quote |
| NKG7 Knockout A-549 Cell Line | EDJ-KQ62487 | Human | 4818 | Details Get a Quote |
| NKG7 Knockout HCT 116 Cell Line | EDJ-KQ70954 | Human | 4818 | Details Get a Quote |
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