KIR2DS2
Killer cell immunoglobulin-like receptor, two Ig domains, short cytoplasmic tail, 2
Gene Information Card
| Symbol | KIR2DS2 |
|---|---|
| Full Name | Killer cell immunoglobulin-like receptor, two Ig domains, short cytoplasmic tail, 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 100132285 ncbi.nlm.nih.gov/gene/100132285 |
| Ensembl ID | ENSG00000243772 |
| UniProt ID | P43631 |
| OMIM ID | 604956 |
| HGNC ID | 6334 |
| Aliases | CD158J, KIR2DS2*005, NKAT5, p58 NK receptor |
Description
KIR2DS2 is a member of the killer cell immunoglobulin-like receptor (KIR) family, located within the leukocyte receptor complex on chromosome 19. It encodes an activating receptor expressed on natural killer (NK) cells and subsets of T cells. KIR2DS2 recognizes HLA-C allotypes (primarily group C1) and triggers NK cell activation upon ligand binding, playing a role in immune surveillance and response to viral infections and tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | KIR2DS2 binding to HLA-Cw*15 may contribute to NK cell activation and synovial inflammation | Genetic association studies (OMIM 604956) |
| Psoriatic Arthritis | Activating KIR/HLA interactions implicated in disease susceptibility | Case-control studies (NCBI Gene) |
| Hepatitis C Virus Infection | KIR2DS2+ NK cells may influence viral clearance or persistence | Association studies (ClinVar) |
| Cytomegalovirus Infection | KIR2DS2 engagement with HLA-C modulates NK cell antiviral response | Functional studies (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 0.0 | Not detected |
| Whole Blood | 0.0 | Not detected |
| Bone Marrow | 0.0 | Not detected |
| Lymph Node | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NK-92 | 0.0 | KIR2DS2 not expressed in this cell line |
| K562 | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1Val; potential loss of start codon |
| c.100C>T | missense | <0.01% | p.Arg34Cys; may affect ligand binding |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical residues in the Ig domains may impair receptor expression or ligand recognition.
Gain of Function (GOF)
Not documented.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003823 (GO:0003823) | • GO:0007166 (GO:0007166) |
| • GO:0015026 (GO:0015026) | • GO:0042605 (GO:0042605) |
| • GO:0005886 (GO:0005886) |
Pathways
• Natural killer cell mediated cytotoxicity (KEGG hsa04650)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome R-HSA-198933)
Protein Summary
KIR2DS2 is a transmembrane glycoprotein with two extracellular immunoglobulin-like domains and a short cytoplasmic tail lacking immunoreceptor tyrosine-based inhibitory motifs (ITIMs). It associates with DAP12 adaptor protein to transduce activating signals. The protein recognizes HLA-C molecules carrying the C1 epitope (Asn80). KIR2DS2 is expressed on NK cells and a subset of T cells, contributing to immune activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIR2DS2 Knockout HEK293 Cell Line | EDJ-KQ5064 | Human | 100132285 | Details Get a Quote |
| KIR2DS2 Knockout A-549 Cell Line | EDJ-KQ27980 | Human | 100132285 | Details Get a Quote |
| KIR2DS2 Knockout HCT 116 Cell Line | EDJ-KQ27981 | Human | 100132285 | Details Get a Quote |
| KIR2DS2 Knockout HeLa Cell Line | EDJ-KQ27982 | Human | 100132285 | Details Get a Quote |
