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PAFAH2

Synonyms
HSD-PLA2
External resources
Summary
This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme.

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
172
Likely pathogenic
0
VUS
1,282
Likely benign
186
Benign
0

Patient Phenotypes

Proportions of phenotypes among 171 patients carrying pathogenic or likely pathogenic variants on PAFAH2 gene are displayed below. The following symptoms were found in patients with a variant in PAFAH2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.1%
Abnormality of the musculoskeletal system
32.2%
Abnormality of head or neck
24.6%
Abnormality of the cardiovascular system
18.7%
Growth abnormality
14.6%
Abnormality of the eye
13.5%
Abnormality of the ear
12.9%
Abnormality of the genitourinary system
10.5%
Abnormality of metabolism homeostasis
9.4%
Abnormality of the integument
8.2%
Abnormality of limbs
6.4%
Abnormality of the immune system
5.8%
Neoplasm
5.3%
Abnormality of the digestive system
4.7%
Abnormality of blood and blood forming tissues
3.5%
Abnormality of the endocrine system
3.5%
Abnormality of prenatal development or birth
2.3%
Abnormality of the respiratory system
1.8%
Constitutional symptom
1.8%
Abnormality of the voice
0.6%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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