NKTR Gene (Natural Killer Cell Triggering Receptor)
Comprehensive genomic and functional analysis of NKTR, a gene involved in natural killer cell activation and immune regulation.
Gene Information Card
| Symbol | NKTR |
|---|---|
| Full Name | Natural killer cell triggering receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 4820 ncbi.nlm.nih.gov/gene/4820 |
| Ensembl ID | ENSG00000114857 |
| UniProt ID | P30443 |
| OMIM ID | 161565 |
| HGNC ID | 7833 |
| Aliases | NKTR, NK-triggering receptor, CD335, NCR1 |
Description
The NKTR gene encodes a transmembrane protein that functions as a natural killer (NK) cell triggering receptor. It is a member of the immunoglobulin superfamily and plays a critical role in NK cell activation and cytotoxicity. The receptor recognizes ligands on target cells, leading to NK cell degranulation and cytokine production. NKTR is also involved in immune surveillance against tumors and virally infected cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Natural killer cell deficiency | Impaired NK cell activation due to NKTR mutations | ClinVar, OMIM |
| Recurrent viral infections | Loss of NKTR function reduces antiviral immunity | ClinVar |
| Cancer (various) | Altered NKTR expression may affect tumor immune surveillance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Peripheral blood | 15.3 | High |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 45.2 | High expression in NK cell line |
| K562 | 2.3 | Low expression in erythroleukemia cell line |
| Jurkat | 1.1 | Very low expression in T cell line |
| HEK293 | 0.5 | Negligible expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Loss of start codon, likely loss of function |
| p.Arg72Trp | missense | 0.02% | Reduced receptor activation |
| p.Gly105Ser | missense | 0.01% | Altered ligand binding |
Mutation functional classification
Loss of Function (LOF)
Mutations such as c.1A>G lead to complete loss of NKTR protein expression, impairing NK cell activation.
Gain of Function (GOF)
No gain-of-function mutations reported in NKTR.
Dominant Negative (DN)
No dominant-negative mutations reported in NKTR.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Natural killer cell mediated cytotoxicity (KEGG: hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)
Protein Summary
The NKTR protein is a type I transmembrane receptor with an extracellular immunoglobulin-like domain, a transmembrane region, and a short cytoplasmic tail. It is expressed primarily on natural killer cells and a subset of T cells. Upon ligand binding, NKTR triggers intracellular signaling cascades leading to degranulation and cytokine release. The protein is essential for NK cell-mediated cytotoxicity and immune defense against tumors and pathogens.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NKTR Knockout HEK293 Cell Line | EDJ-KQ3536 | Human | 4820 | Details Get a Quote |
| NKTR Knockout HCT 116 Cell Line | EDJ-KQ24003 | Human | 4820 | Details Get a Quote |
| NKTR Knockout A-549 Cell Line | EDJ-KQ25380 | Human | 4820 | Details Get a Quote |
| NKTR Knockout HeLa Cell Line | EDJ-KQ25382 | Human | 4820 | Details Get a Quote |
