CD160

Chr 1

CD160 molecule

Also known as: BY55, NK1, NK28

NCBI Gene: 11126ENSG00000117281UniProt: O95971

CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]

258
ClinVar variants
130
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CD160
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
130 Pathogenic / Likely Pathogenic· 94 VUS of 258 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.51LOEUF
pLI 0.000
Z-score 0.50
OE 0.82 (0.46–1.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.42Z-score
OE missense 0.88 (0.73–1.05)
84 obs / 95.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.82 (0.46–1.51)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.73–1.05)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 7 / 8.6Missense obs/exp: 84 / 95.7Syn Z: 0.26

ClinVar Variant Classifications

258 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic110
Likely Pathogenic20
VUS94
Likely Benign3
Benign8
Conflicting2
110
Pathogenic
20
Likely Pathogenic
94
VUS
3
Likely Benign
8
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————110
Likely Pathogenic
————20
VUS
————94
Likely Benign
————3
Benign
————8
Conflicting
—2
Total—237

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD160 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CD160 ANTIGEN; CD160
MIM #604463 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation.
Mälarstig A et al.·Nat Commun
2023
Membrane-bound IL-21 promotes sustained ex vivo proliferation of human natural killer cells.
Denman CJ et al.·PLoS One
2012
CD160 receptor in CLL: Current state and future avenues.
Oumeslakht L et al.·Front Immunol
2022Review
CD160: a unique activating NK cell receptor.
Le Bouteiller P et al.·Immunol Lett
2011Review
Beyond the anti-PD-1/PD-L1 era: promising role of the BTLA/HVEM axis as a future target for cancer immunotherapy.
Sordo-Bahamonde C et al.·Mol Cancer
2023Review
Clinical Significance of TNFSF14/LIGHT and CD160 in Gastric Cancer and Peptic Ulcer Dyspepsia.
Keykhosravi M et al.·Asian Pac J Cancer Prev
2024
Combination of oligo-fractionated irradiation with nivolumab can induce immune modulation in gastric cancer.
Mimura K et al.·J Immunother Cancer
2024
B-cell-directed CAR T-cell therapy activates CD8+ cytotoxic CARneg bystander T cells in patients and nonhuman primates.
Kaminski J et al.·Blood
2024Cohort
Expression profiles of peripheral CD160+ lymphocytes during the course of healthy human pregnancy.
Barakonyi A et al.·Am J Reprod Immunol
2011
A Pyroptosis-Related Gene Signature Predicts Prognosis and Tumor Immune Microenvironment in Colorectal Cancer.
Li L et al.·Technol Cancer Res Treat
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Immune Checkpoint Activity and Prognostic Roles of TNFRSF8, CD160, and TNFSF9 in Primary and Brain Metastatic NSCLC.
Liu SJ et al.·Asia Pac J Clin Oncol
2026
CD160+ intraepithelial lymphocytes and CCRL2+ macrophages drive differential repair in cardiac and liver injuries.
Sun K et al.·Cell Mol Immunol
2026
Interferon therapy-induced reduction in PD-1 + CD8 + and CD160 + CD8 + T cells is associated with functional cure in hepatitis B.
Zhou D et al.·BMC Infect Dis
2025🔓 Open AccessFunctional
CD160-Derived Peptide as a Bidirectional Inhibitor Toward Immune Checkpoints BTLA/HVEM and HVEM/LIGHT.
Lipińska M et al.·J Med Chem
2025🔓 Open Access
CD160 dictates anti-PD-1 immunotherapy resistance by regulating CD8+ T cell exhaustion in colorectal cancer.
Zheng T et al.·Nat Cell Biol
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools