Entity Details

Primary name PSENEN
Entity type gene
Source Source Link

Details

PrimaryID55851
RefseqGeneNG_027934
SymbolPSENEN
Namepresenilin enhancer, gamma-secretase subunit
Chromosome19
Location19q13.12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPEN2_HUMAN

GO terms

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GOName
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006509 membrane protein ectodomain proteolysis
GO:0007220 Notch receptor processing
GO:0010008 endosome membrane
GO:0010950 positive regulation of endopeptidase activity
GO:0016021 integral component of membrane
GO:0016485 protein processing
GO:0019899 enzyme binding
GO:0031293 membrane protein intracellular domain proteolysis
GO:0032580 Golgi cisterna membrane
GO:0034205 amyloid-beta formation
GO:0035333 Notch receptor processing, ligand-dependent
GO:0042982 amyloid precursor protein metabolic process
GO:0042987 amyloid precursor protein catabolic process
GO:0043065 positive regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0048013 ephrin receptor signaling pathway
GO:0061133 endopeptidase activator activity
GO:0070765 gamma-secretase complex
GO:1990000 amyloid fibril formation

Diseases

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Disease IDSourceNameDescription
613736 OMIMAcne inversa, familial, 2, with or without Dowling-Degos disease (ACNINV2)An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease. The disease is caused by variants affecting the gene represented in this entry.