PACS2 Chromosome 14
Phosphofurin acidic cluster sorting protein 2
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What This Gene Does
Predicted to enable transmembrane transporter binding activity. Involved in endoplasmic reticulum calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and protein localization to plasma membrane. Acts upstream of or within protein localization to phagophore assembly site. Located in endoplasmic reticulum and mitochondrion. Implicated in developmental and epileptic encephalopathy 66. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (9)
Inborn genetic diseases
Developmental and epileptic encephalopathy
66
1
Intellectual disability
Sarcoma
See cases
Seizure
PACS2-related disorder
Key Variants
RS1023090773
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1248593195
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1254094658
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 66, Developmental and epileptic encephalopathy
Health Risk
RS1393599725
Conflicting classifications of pathogenicity
Health Risk
RS140331410
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 66, Developmental and epileptic encephalopathy
Health Risk
RS141446475
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144456854
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147003362
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1488845742
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 66, Inborn genetic diseases
Health Risk
RS1555403142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555408385
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 66, Developmental and epileptic encephalopathy
Health Risk
RS1555412690
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 1, Developmental and epileptic encephalopathy
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS782667380 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782685668 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782686270 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782701010 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782705203 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782729940 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 66, Inborn genetic diseases |
| RS782775675 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS982124932 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2141147698 | Health Risk | Likely pathogenic | — |
| RS1555408401 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Developmental and epileptic encephalopathy, 66 |