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LPCAT2

Synonyms
AGPAT11, AYTL1, LysoPAFAT
External resources
Summary
This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi.

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
17
Likely pathogenic
97
VUS
4,741
Likely benign
862
Benign
0

Patient phenotypes

Proportions of phenotypes among 104 patients carring pathogenic or likely pathogenic variants on LPCAT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.7%
Abnormality of the musculoskeletal system
21.2%
Abnormality of head or neck
18.3%
Abnormality of the eye
12.5%
Growth abnormality
11.5%
Abnormality of the ear
10.6%
Abnormality of the cardiovascular system
8.7%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of the immune system
4.8%
Abnormality of limbs
2.9%
Abnormality of the genitourinary system
2.9%
Abnormality of the digestive system
1.9%
Abnormality of the endocrine system
1.9%
Abnormality of the integument
1.9%
Abnormality of the respiratory system
1.9%
Constitutional symptom
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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