DGAT2

Chr 11

diacylglycerol O-acyltransferase 2

Also known as: ARAT, GS1999FULL, HMFN1045

NCBI Gene: 84649ENSG00000062282UniProt: Q96PD7

This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…
1
Active trials
155
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.25
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.66
OE 0.85 (0.59–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.82Z-score
OE missense 0.84 (0.74–0.95)
180 obs / 213.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.59–1.25)
0≤0.351.4
Missense OE?0.84 (0.74–0.95)
0≤0.61.4
Synonymous OE?1.09
0≤1.21.6
LoF obs/exp: 19 / 22.4Missense obs/exp: 180 / 213.9Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DGAT2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients