MMD2

Chr 7

monocyte to macrophage differentiation associated 2

Also known as: PAQR10

This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Miyoshi muscular dystrophy 2MIM #613318
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.42
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.000
Z-score 0.41
OE 0.88 (0.561.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.12Z-score
OE missense 1.03 (0.901.17)
161 obs / 156.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.88 (0.561.42)
00.351.4
Missense OE?1.03 (0.901.17)
00.61.4
Synonymous OE?1.16
01.21.6
LoF obs/exp: 12 / 13.6Missense obs/exp: 161 / 156.6Syn Z: -0.98

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MMD2 · 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 →