PRB2

Chr 12

proline rich protein BstNI subfamily 2

Also known as: IB-9, PRPPRB1, Ps, cP7

This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
1.97
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — PRB2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.97LOEUF
pLI 0.000
Z-score -2.54
OE 2.42 (1.121.97)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.90Z-score
OE missense 1.75 (1.601.90)
378 obs / 216.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?2.42 (1.121.97)
00.351.4
Missense OE?1.75 (1.601.90)
00.61.4
Synonymous OE?1.59
01.21.6
LoF obs/exp: 9 / 3.7Missense obs/exp: 378 / 216.6Syn Z: -3.97

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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