PARD6B
Chr 20par-6 family cell polarity regulator beta
Also known as: PAR6B
PARD6B encodes an adapter protein that regulates asymmetrical cell division and cell polarization processes, particularly in the formation of epithelial tight junctions through interactions with PARD3 and atypical protein kinase C proteins. Mutations cause autosomal recessive lissencephaly with cerebellar hypoplasia, presenting in infancy with severe developmental delays and seizures. The gene is highly constrained against loss-of-function variants, reflecting its critical role in normal brain development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
66 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 38 | 1 | 0 | 39 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 40 | 14 | 0 | 54 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PARD6B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools