Entity Details

Primary name PACS2
Entity type gene
Source Source Link

Details

PrimaryID23241
RefseqGene
SymbolPACS2
Namephosphofurin acidic cluster sorting protein 2
Chromosome14
Location14q32.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsPACS2_HUMAN

GO terms

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GOName
GO:0000045 autophagosome assembly
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0006915 apoptotic process
GO:0016032 viral process
GO:0032469 endoplasmic reticulum calcium ion homeostasis
GO:0034497 protein localization to phagophore assembly site
GO:0044325 transmembrane transporter binding
GO:0072659 protein localization to plasma membrane
GO:1990456 mitochondrion-endoplasmic reticulum membrane tethering

Diseases

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Disease IDSourceNameDescription
618067 OMIMDevelopmental and epileptic encephalopathy 66 (DEE66)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life. The disease is caused by variants affecting the gene represented in this entry.