PLAA Chromosome 9
Phospholipase A2 activating protein
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What This Gene Does
Predicted to enable ubiquitin binding activity. Involved in cellular response to lipopolysaccharide; macroautophagy; and positive regulation of phospholipase A2 activity. Located in cytoplasm; extracellular exosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"WD repeat domain containing|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
9p21.2
Ensembl
ENSG00000137055
Associated Conditions (7)
Inborn genetic diseases
PLAA-related disorder
Thymoma
Clear cell carcinoma of kidney
Neurodevelopmental disorder with progressive microcephaly
spasticity
and brain anomalies
Key Variants
RS137995823
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140970730
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1426488816
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147771284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201814139
Conflicting classifications of pathogenicity
PLAA-related disorder, Thymoma, Clear cell carcinoma of kidney
Health Risk
RS754335768
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS756103623
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765755261
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1241511703
Likely pathogenic
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Health Risk
RS1587143858
Likely pathogenic
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Health Risk
RS2131392225
Likely pathogenic
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Health Risk
RS2489161312
Likely pathogenic
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137995823 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140970730 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1426488816 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147771284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201814139 | Health Risk | Conflicting classifications of pathogenicity | PLAA-related disorder, Thymoma, Clear cell carcinoma of kidney |
| RS754335768 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756103623 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765755261 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1241511703 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1587143858 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS2131392225 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS2489161312 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1114167457 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1214280939 | Health Risk | Pathogenic | — |
| RS1554662408 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1587185107 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1587205406 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1824723269 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS1824935807 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |
| RS747956857 | Health Risk | Pathogenic | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies |