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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KLRF2
killer cell lectin like receptor F2
Chromosome 12 · 12p13.31
NCBI Gene: 100431172Ensembl: ENSG00000256797.1HGNC: HGNC:37646UniProt: D3W0D1
6PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein homodimerization activityplasma membranepositive regulation of cytokine productionamyotrophic lateral sclerosisIron deficiency anemiaalcohol drinkinghypotension
✦AI Summary

KLRF2 encodes NKp65, a C-type lectin-like receptor (CTLR) expressed selectively by innate lymphoid cells group 3 (ILC3) that mediates immune surveillance of human skin 1. NKp65 functions as a high-affinity receptor for keratinocyte-associated C-type lectin (KACL), which is predominantly expressed on keratinocytes 2. Upon KACL engagement, NKp65 triggers NK cell degranulation and cytokine secretion through a hemITAM-dependent signaling mechanism 3. The receptor forms homodimers and undergoes phosphotyrosinylation at a critical tyrosine residue within its hemITAM motif, activating downstream signaling through Syk kinase without direct Syk recruitment 3. Functionally, NKp65-KACL interaction promotes cellular cytotoxicity against KACL-expressing target cells 2. A common polymorphism (rs576601) in KLRF2 results in Pro131Thr substitution, significantly reducing NKp65 surface expression through enhanced intracellular retention, diminishing ligand-binding affinity and substantially impairing cytotoxic function 4. This polymorphism may impact skin immunosurveillance by affecting ILC3-mediated recognition of keratinocytes 4. NKp65-KACL-expressing fibroblasts also orchestrate immune crosstalk controlling squamous cell carcinoma invasion, a mechanism compromised in xeroderma pigmentosum 5.

Sources cited
1
KLRF2 polymorphism rs576601 (Pro131Thr) affects NKp65 surface expression, ligand binding, and cytotoxic function through intracellular retention
PMID: 40802609
2
NKp65 is selectively expressed by human ILC3 and demarcates ILC3 from mature NK cells; functions in skin immune surveillance
PMID: 38072999
3
NKp65 is the activating receptor for KACL expressed on keratinocytes; stimulates NK cytotoxicity and proinflammatory cytokine release
PMID: 20194751
4
NKp65 signals through hemITAM-dependent mechanism requiring Syk kinase; triggers degranulation via tyrosine 7 phosphotyrosinylation without Syk direct recruitment
PMID: 28082678
5
Key amino acid residues (Arg158, Ile161) at membrane-distal surface of KACL determine functional NKp65-KACL interaction independently of glycosylation
PMID: 25510854
6
CLEC2A-expressing dermal fibroblasts orchestrate NK cell crosstalk controlling squamous cell carcinoma invasion; lost in xeroderma pigmentosum fibroblasts
PMID: 32061658
Disease Associationsⓘ18
amyotrophic lateral sclerosisOpen Targets
0.27Weak
Iron deficiency anemiaOpen Targets
0.14Weak
alcohol drinkingOpen Targets
0.04Suggestive
hypotensionOpen Targets
0.02Suggestive
response to anticonvulsantOpen Targets
0.02Suggestive
Stevens-Johnson syndromeOpen Targets
0.02Suggestive
toxic epidermal necrolysisOpen Targets
0.02Suggestive
spermatoceleOpen Targets
0.02Suggestive
musculoskeletal system diseaseOpen Targets
0.02Suggestive
upper respiratory tract disorderOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
inflammatory skin diseaseOpen Targets
0.00Suggestive
Friedreich ataxiaOpen Targets
0.00Suggestive
skin diseaseOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
xeroderma pigmentosumOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CLEC2AProtein interaction78%CLEC2BProtein interaction74%LURAP1Shared pathway33%CLEC9AShared pathway33%S100A13Shared pathway25%CEACAM20Shared pathway25%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
KLRF2CLEC2ACLEC2BLURAP1CLEC9AS100A13CEACAM20
PROTEIN STRUCTURE
Preparing viewer…
PDB4IOP · 3.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.26LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.44–1.26]
RankingsWhere KLRF2 stands among ~20K protein-coding genes
  • #18,102of 20,598
    Most Researched6
  • #13,335of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedKLRF2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
A common polymorphism in the human immunoreceptor NKp65 determines ligand interaction, cell surface expression and function.
PMID: 40802609
PLoS One · 2025
1.00
2
Alterations in Systemic Inflammatory Response Following a Half-Marathon Race with a Combined Curcumin and Pomegranate Supplement: A Feasibility Study.
PMID: 32657201
J Diet Suppl · 2021
0.89
3
The activating receptor NKp65 is selectively expressed by human ILC3 and demarcates ILC3 from mature NK cells.
PMID: 38072999
Eur J Immunol · 2024
0.78
4
Interaction of C-type lectin-like receptors NKp65 and KACL facilitates dedicated immune recognition of human keratinocytes.
PMID: 20194751
Proc Natl Acad Sci U S A · 2010
0.67
5
Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65.
PMID: 25510854
Immunology · 2015
0.56