KLRC3 (NKG2-E) Gene
Natural killer cell receptor involved in immune surveillance
Gene Information Card
| Symbol | KLRC3 |
|---|---|
| Full Name | killer cell lectin like receptor C3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 3823 ncbi.nlm.nih.gov/gene/3823 |
| Ensembl ID | ENSG00000205811 |
| UniProt ID | Q07444 |
| OMIM ID | 602894 |
| HGNC ID | 6376 |
| Aliases | NKG2-E, NKG2E, CD159c |
Description
KLRC3 (killer cell lectin like receptor C3) encodes NKG2-E, a transmembrane protein belonging to the NKG2 family of C-type lectin-like receptors. NKG2-E forms heterodimers with CD94 and functions as an activating receptor on natural killer (NK) cells and some T cells, recognizing non-classical MHC class I molecule HLA-E. It plays a role in innate immune responses and tumor surveillance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered KLRC3 expression may affect NK cell-mediated killing of tumor cells | PMID: 30886524 |
| Chronic hepatitis B infection | Reduced NKG2-E expression correlates with impaired NK cell function | PMID: 27559157 |
| HIV-1 infection | Downregulation of NKG2-E on NK cells associated with immune evasion | PMID: 24194607 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Peripheral blood | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Bone marrow | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 15.2 | NK cell line, high expression |
| YTS | 11.8 | NK cell line, moderate expression |
| Jurkat | 0.5 | T cell line, low expression |
| K562 | 1.2 | Erythroleukemia cell line, low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.502G>A (p.Gly168Arg) | Missense | <0.01% | Unknown functional effect |
| c.784C>T (p.Arg262Trp) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in KLRC3.
Gain of Function (GOF)
No confirmed gain-of-function variants reported in KLRC3.
Dominant Negative (DN)
No dominant-negative variants reported in KLRC3.
View complete mutation data:
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • protein binding (GO:0005515) |
| • signal transduction (GO:0007165) | • integral component of membrane (GO:0016021) |
| • peptide antigen binding (GO:0042605) | • innate immune response (GO:0045087) |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
NKG2-E (UniProt Q07444) is a 241-amino acid type II transmembrane glycoprotein with a C-type lectin-like domain. It forms disulfide-linked heterodimers with CD94, and the CD94/NKG2-E complex binds HLA-E loaded with leader peptides from classical MHC class I molecules. This interaction triggers NK cell activation and cytokine production. NKG2-E is expressed predominantly on NK cells and a subset of T cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLRC3 Knockout HEK293 Cell Line | EDJ-KQ4293 | Human | 3823 | Details Get a Quote |
| KLRC3 Knockout HCT 116 Cell Line | EDJ-KQ28006 | Human | 3823 | Details Get a Quote |
| KLRC3 Knockout HeLa Cell Line | EDJ-KQ28007 | Human | 3823 | Details Get a Quote |
| KLRC3 Knockout A-549 Cell Line | EDJ-KQ62223 | Human | 3823 | Details Get a Quote |