MPP7

Chr 10

MAGUK p55 scaffold protein 7

The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.94
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?
0.94LOEUF
pLI 0.000
Z-score 1.82
OE 0.66 (0.470.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.90Z-score
OE missense 0.86 (0.770.95)
266 obs / 310.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.470.94)
00.351.4
Missense OE?0.86 (0.770.95)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 22 / 33.3Missense obs/exp: 266 / 310.7Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MPP7 · 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.

Search ClinicalTrials.gov →