PRB4

Chr 12

proline rich protein BstNI subfamily 4

Also known as: Po

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 peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the "Small" allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.98
LOEUF
Multiple*
Mechanism· predicted
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?
1.98LOEUF
pLI 0.000
Z-score -2.93
OE 2.62 (1.201.98)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.21Z-score
OE missense 1.79 (1.611.96)
234 obs / 130.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?2.62 (1.201.98)
00.351.4
Missense OE?1.79 (1.611.96)
00.61.4
Synonymous OE?1.32
01.21.6
LoF obs/exp: 10 / 3.8Missense obs/exp: 234 / 130.6Syn Z: -1.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRB4 · 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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