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DGAT2

Synonyms
ARAT, GS1999FULL, HMFN1045
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
18
Likely pathogenic
0
VUS
287
Likely benign
1,669
Benign
47

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on DGAT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
33.3%
Abnormality of the nervous system
33.3%
Abnormality of the musculoskeletal system
27.8%
Abnormality of the cardiovascular system
22.2%
Abnormality of the digestive system
16.7%
Abnormality of head or neck
11.1%
Abnormality of prenatal development or birth
11.1%
Abnormality of the ear
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
11.1%
Abnormality of the respiratory system
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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