PILRB

Chr 7

paired immunoglobin like type 2 receptor beta

NCBI Gene: 29990ENSG00000121716UniProt: Q9UKJ0

Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface

51
ClinVar variants
6
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PILRB
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 41 VUS of 51 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.
1.37LOEUF
pLI 0.000
Z-score 0.77
OE 0.73 (0.41–1.37)
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.
-0.23Z-score
OE missense 1.06 (0.92–1.22)
132 obs / 124.9 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.0.73 (0.41–1.37)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.06 (0.92–1.22)
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.1.30
0≤1.21.6
LoF obs/exp: 7 / 9.6Missense obs/exp: 132 / 124.9Syn Z: -1.75

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
VUS41
Likely Benign4
6
Pathogenic
41
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
0
0
0
VUS
0
40
1
0
41
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total0447051

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

View in ClinVar →

Protein Context — Lollipop Plot

PILRB · 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
Construction and validation of a cuproptosis-related prognostic model for glioblastoma.
Zhang B et al.·Front Immunol
2023Functional
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.
Griesemer D et al.·Cell
2021Functional
Loss of paired immunoglobin-like type 2 receptor B gene associated with age-related macular degeneration impairs photoreceptor function in mouse retina.
Dey PN et al.·Hum Mol Genet
2025Functional
Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia.
Reus LM et al.·Brain
2024
A human microglia-like cellular model for assessing the effects of neurodegenerative disease gene variants.
Ryan KJ et al.·Sci Transl Med
2017Functional
Integrated Transcriptomics and Single-Cell RNA Sequencing Analyses Reveal the Potential Role of Obesity-Related Genes in Polycystic Ovary Syndrome.
Gong X·Reprod Sci
2025
Manifestations of Alzheimer's disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90.
Heath L et al.·Sci Rep
2022Meta-analysis
Global trends and risk factors in gastric cancer: a comprehensive analysis of the Global Burden of Disease Study 2021 and multi-omics data.
Zhang L et al.·Int J Med Sci
2025
Differential gene expression patterns and interaction networks in BCR-ABL-positive and -negative adult acute lymphoblastic leukemias.
Juric D et al.·J Clin Oncol
2007
Comprehensive Characterization of Necroptosis-Related lncRNAs in Bladder Cancer Identifies a Novel Signature for Prognosis Prediction.
XiaYu K et al.·Dis Markers
2022
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