PARD3B

Chr 2

par-3 family cell polarity regulator beta

Also known as: ALS2CR19, PAR3B, PAR3L, PAR3beta

NCBI Gene: 117583ENSG00000116117UniProt: Q8TEW8

Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

254
ClinVar variants
31
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— PARD3B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
31 Pathogenic / Likely Pathogenic· 211 VUS of 254 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.
0.72LOEUF
pLI 0.000
Z-score 3.22
OE 0.53 (0.39–0.72)
Tolerant

Typical tolerance to LoF variation

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.
-0.56Z-score
OE missense 1.06 (1.00–1.13)
688 obs / 647.6 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.0.53 (0.39–0.72)
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 (1.00–1.13)
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.0.99
0≤1.21.6
LoF obs/exp: 29 / 54.7Missense obs/exp: 688 / 647.6Syn Z: 0.12

ClinVar Variant Classifications

254 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic5
VUS211
Likely Benign11
Benign1
26
Pathogenic
5
Likely Pathogenic
211
VUS
11
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
26
0
26
Likely Pathogenic
1
0
4
0
5
VUS
1
198
11
1
211
Likely Benign
0
7
2
2
11
Benign
0
0
0
1
1
Total2205434254

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

View in ClinVar →

Protein Context — Lollipop Plot

PARD3B · 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
Hydrochlorothiazide-induced hyperuricaemia in the pharmacogenomic evaluation of antihypertensive responses study.
Vandell AG et al.·J Intern Med
2014
A genome-wide association study identifies a novel East Asian-specific locus for dementia with Lewy bodies in Japanese subjects.
Mitsumori R et al.·Mol Med
2025
HIV types, groups, subtypes and recombinant forms: errors in replication, selection pressure and quasispecies.
Eberle J et al.·Intervirology
2012Review
Host genetics contributes to the effectiveness of dendritic cell-based HIV immunotherapy.
Reis EC et al.·Hum Vaccin Immunother
2018
A proximity proteomics screen in three-dimensional spheroid cultures identifies novel regulators of lumen formation.
Wang LT et al.·Sci Rep
2021
Host genomic HIV restriction factors modulate the response to dendritic cell-based treatment against HIV-1.
Pontillo A et al.·Hum Vaccin Immunother
2014
An integrated approach of comparative genomics and heritability analysis of pig and human on obesity trait: evidence for candidate genes on human chromosome 2.
Kim J et al.·BMC Genomics
2012
[Association of genetic variants in TOMM7 gene and gene environment interaction with type 2 diabetes in Chinese Dong population].
Liu L et al.·Zhong Nan Da Xue Xue Bao Yi Xue Ban
2015
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