MMD2

Chr 7

monocyte to macrophage differentiation associated 2

Also known as: PAQR10

NCBI Gene: 221938ENSG00000136297UniProt: Q8IY49

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]

Primary Disease Associations & Inheritance

Miyoshi muscular dystrophy 2MIM #613318
108
ClinVar variants
36
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MMD2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
36 Pathogenic / Likely Pathogenic· 70 VUS of 108 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.42LOEUF
pLI 0.000
Z-score 0.41
OE 0.88 (0.56–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.12Z-score
OE missense 1.03 (0.90–1.17)
161 obs / 156.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.88 (0.56–1.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.90–1.17)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.16
0≤1.21.6
LoF obs/exp: 12 / 13.6Missense obs/exp: 161 / 156.6Syn Z: -0.98

ClinVar Variant Classifications

108 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic3
VUS70
Likely Benign2
33
Pathogenic
3
Likely Pathogenic
70
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
33
0
33
Likely Pathogenic
0
0
3
0
3
VUS
0
55
15
0
70
Likely Benign
0
1
1
0
2
Benign
0
0
0
0
0
Total056520108

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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.

OMIM — Genotype-Phenotype Relationships

2 OMIM entries

OMIM

Miyoshi muscular dystrophy 2

MIM #613318

Disorder mapped to chromosomal region

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
MiR-1270 Suppresses the Malignant Progression of Breast Cancer via Targeting MMD2.
Hu S et al.·J Healthc Eng
2022
Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy.
Linssen WH et al.·Eur J Neurol
2013Cohort
Identification of novel predictor classifiers for inflammatory bowel disease by gene expression profiling.
Montero-Meléndez T et al.·PLoS One
2013
The biological, clinical and prognostic implications of p53 transcriptional pathways in breast cancers.
Abdel-Fatah TM et al.·J Pathol
2010
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect.
Jaiswal JK et al.·Traffic
2007Case report
Molecular Basis of the Functional Differences between Soluble Human Versus Murine MD-2: Role of Val135 in Transfer of Lipopolysaccharide from CD14 to MD-2.
Vašl J et al.·J Immunol
2016Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools