MMD2

Chr 7

monocyte to macrophage differentiation associated 2

Also known as: PAQR10

NCBI Gene: 221938 ENSG00000136297 UniProt: Q8IY49 OMIM: 614581

The protein localizes to the Golgi apparatus and modulates Ras signaling as a member of the PAQR family with seven transmembrane domains. Mutations cause Miyoshi muscular dystrophy 2, an autosomal recessive disorder affecting skeletal muscle. This gene is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Miyoshi muscular dystrophy 2MIM #613318

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in MMD2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

454 rare PASS variants

Rare truncating (LoF)

1 in 2,100

68 rare PASS variants

Rare synonymous (reference)

1 in 140

154 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MMD2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 2,500
South Asian	~43k	1 in 120	1 in 910
Remaining (unassigned)	~30k	1 in 130	1 in 1,700
European (Finnish)	~27k	1 in 660	1 in 3,600
Admixed American	~22k	1 in 130	1 in 1,000
African / African American	~21k	1 in 160	1 in 1,700
East Asian	~20k	1 in 180	1 in 1,300
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 160	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 5 of 7 coding exons well covered in gnomAD exomes; exons 1, 2 marginal. Genomes: all 7.? see exons ↓