KLRC2
Chr 12killer cell lectin like receptor C2
Also known as: CD159c, NKG2-C, NKG2C
KLRC2 encodes an immune activating receptor that forms complexes with KLRD1 on natural killer cells and cytotoxic lymphocytes to recognize HLA-E molecules and regulate immune responses, particularly in viral infections and maternal-fetal tolerance. The gene is not highly constrained against loss-of-function variants and currently has no established disease associations in humans. KLRC2 functions primarily in immune system regulation rather than neurological processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
80 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 27 | 3 | 0 | 30 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 3 | 0 | 1 | 4 |
| Total | 0 | 34 | 42 | 1 | 77 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
KLRC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools