PRH2

Chr 12

proline rich protein HaeIII subfamily 2

Also known as: PRP-1/PRP-2, Pr, pr1/Pr2

This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. In western population this locus is commonly biallelic and encodes proline-rich protein (PRP) isoforms, PRP-1 and PRP-2. The reference genome encodes the PRP-1 allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.68
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.68LOEUF
pLI 0.012
Z-score 0.52
OE 0.72 (0.331.68)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.64Z-score
OE missense 0.81 (0.670.98)
72 obs / 89.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.331.68)
00.351.4
Missense OE?0.81 (0.670.98)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 3 / 4.1Missense obs/exp: 72 / 89.0Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRH2 · 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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