PRB2
Chr 12proline rich protein BstNI subfamily 2
Also known as: IB-9, PRPPRB1, Ps, cP7
This gene encodes a proline-rich salivary glycoprotein that is secreted from the parotid glands and functions in oral health maintenance. Mutations in PRB2 are associated with pediatric neurological conditions as described in GeneReviews, though the gene shows very low constraint to loss-of-function variants. The inheritance pattern and specific clinical features require consultation of the GeneReviews entry for this gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
192 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 | 39 | 0 | 39 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 130 | 4 | 0 | 134 |
Likely Benign | 0 | 4 | 0 | 9 | 13 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 134 | 47 | 9 | 190 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PRB2 · 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