MOGAT2

Chr 11

monoacylglycerol O-acyltransferase 2

Also known as: DGAT2L5, DGAT2L5., MGAT2, hDC5

NCBI Gene: 80168 ENSG00000166391 UniProt: Q3SYC2 OMIM: 610270

The protein encoded by MOGAT2 is an enzyme that catalyzes the synthesis of diacylglycerol from monoacylglycerol and fatty acyl-CoA, playing a central role in dietary fat absorption in the small intestine. Mutations in this gene cause congenital diarrheal disorders with fat malabsorption, following an autosomal recessive inheritance pattern. The gene shows relatively low constraint to loss-of-function variants (pLI 0.01, LOEUF 0.745), and affected patients typically present in infancy with severe chronic diarrhea and failure to thrive.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [provided by RefSeq, Dec 2015]

OMIM ResearchGenerating clinical summary…

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 MOGAT2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

463 rare PASS variants

Rare truncating (LoF)

1 in 3,200

60 rare PASS variants

Rare synonymous (reference)

1 in 150

175 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MOGAT2. 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 150	1 in 3,600
South Asian	~43k	1 in 88	1 in 3,900
Remaining (unassigned)	~30k	1 in 77	1 in 3,400
European (Finnish)	~27k	1 in 430	1 in 5,300
Admixed American	~22k	1 in 72	1 in 2,300
African / African American	~21k	1 in 100	1 in 2,200
East Asian	~20k	1 in 77	1 in 2,800
Ashkenazi Jewish	~13k	1 in 300	none seen
Middle Eastern	~2,884	1 in 140	≈ 1 in 1,400

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): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓