LY86

Chr 6

lymphocyte antigen 86

Also known as: MD-1, MD1, MMD-1, dJ80N2.1

NCBI Gene: 9450ENSG00000112799UniProt: O95711

Acts upstream of or within positive regulation of lipopolysaccharide-mediated signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

60
ClinVar variants
30
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— LY86
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
30 Pathogenic / Likely Pathogenic· 27 VUS of 60 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.
1.75LOEUF
pLI 0.000
Z-score -0.01
OE 1.00 (0.57–1.75)
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.
-0.34Z-score
OE missense 1.10 (0.93–1.31)
94 obs / 85.1 exp
Tolerant

Tolerant to missense variation

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.1.00 (0.57–1.75)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.10 (0.93–1.31)
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.1.10
0≤1.21.6
LoF obs/exp: 7 / 7.0Missense obs/exp: 94 / 85.1Syn Z: -0.47

ClinVar Variant Classifications

60 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
Likely Pathogenic3
VUS27
Benign3
27
Pathogenic
3
Likely Pathogenic
27
VUS
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
27
0
27
Likely Pathogenic
0
0
3
0
3
VUS
0
24
3
0
27
Likely Benign
0
0
0
0
0
Benign
0
1
1
1
3
Total02534160

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

LY86 · 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
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of Potential Biomarkers and Therapeutic Targets for Periodontitis.
Huoshen W et al.·Int Dent J
2025
Genetic variability of immune-related lncRNAs: polymorphisms in LINC-PINT and LY86-AS1 are associated with pemphigus foliaceus susceptibility.
Salviano-Silva A et al.·Exp Dermatol
2021
Identification of unique venous thromboembolism-susceptibility variants in African-Americans.
Heit JA et al.·Thromb Haemost
2017
The mononuclear phagocyte system obscures the accurate diagnosis of infected joint replacements.
Manasherob R et al.·J Transl Med
2024
Potential drug targets for intracranial aneurysms identified through Mendelian randomization analysis.
Peng L et al.·Neurosurg Rev
2025
A risk signature-based on metastasis-associated genes to predict survival of patients with osteosarcoma.
Shi Y et al.·J Cell Biochem
2020Cohort
Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants.
Kim W et al.·Genome Biol
2026
A cuproptosis-related lncRNA signature for predicting prognosis and immunotherapy response of lung adenocarcinoma.
Yu S et al.·Hereditas
2023
Transcriptomic Profile of Whole Blood Cells from Elderly Subjects Fed Probiotic Bacteria Lactobacillus rhamnosus GG ATCC 53103 (LGG) in a Phase I Open Label Study.
Solano-Aguilar G et al.·PLoS One
2016Clinical trial
Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3.
Kuipers BC et al.·Clin Dysmorphol
2013Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools