Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55851
Gene name	Presenilin enhancer, gamma-secretase subunit
Gene symbol	PSENEN
Synonyms (NCBI Gene)	ACNINV2MDS033MSTP064PEN-2PEN2
Chromosome	19
Chromosome location	19q13.12
Summary	Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amyloid precursor protein. Signaling by Notch receptors me

Show/Hide all (60)

miRTarBase ID	miRNA	Experiments
MIRT1269636	hsa-miR-1182	CLIP-seq
MIRT1269637	hsa-miR-1275	CLIP-seq
MIRT1269638	hsa-miR-1302	CLIP-seq
MIRT1269639	hsa-miR-1915	CLIP-seq
MIRT1269640	hsa-miR-214	CLIP-seq
MIRT1269641	hsa-miR-3155	CLIP-seq
MIRT1269642	hsa-miR-3155b	CLIP-seq
MIRT1269643	hsa-miR-3619-5p	CLIP-seq
MIRT1269644	hsa-miR-3919	CLIP-seq
MIRT1269645	hsa-miR-3925-5p	CLIP-seq
MIRT1269646	hsa-miR-4268	CLIP-seq
MIRT1269647	hsa-miR-4283	CLIP-seq
MIRT1269648	hsa-miR-4291	CLIP-seq
MIRT1269649	hsa-miR-4298	CLIP-seq
MIRT1269650	hsa-miR-4436a	CLIP-seq
MIRT1269651	hsa-miR-4438	CLIP-seq
MIRT1269652	hsa-miR-4525	CLIP-seq
MIRT1269653	hsa-miR-4648	CLIP-seq
MIRT1269654	hsa-miR-4665-5p	CLIP-seq
MIRT1269655	hsa-miR-4723-5p	CLIP-seq
MIRT1269656	hsa-miR-4726-3p	CLIP-seq
MIRT1269657	hsa-miR-484	CLIP-seq
MIRT1269658	hsa-miR-570	CLIP-seq
MIRT1269659	hsa-miR-625	CLIP-seq
MIRT1269660	hsa-miR-761	CLIP-seq
MIRT1269661	hsa-miR-922	CLIP-seq
MIRT1269636	hsa-miR-1182	CLIP-seq
MIRT1269637	hsa-miR-1275	CLIP-seq
MIRT2079256	hsa-miR-1343	CLIP-seq
MIRT2079257	hsa-miR-296-5p	CLIP-seq
MIRT1269641	hsa-miR-3155	CLIP-seq
MIRT1269642	hsa-miR-3155b	CLIP-seq
MIRT2079258	hsa-miR-3192	CLIP-seq
MIRT2079259	hsa-miR-3918	CLIP-seq
MIRT1269646	hsa-miR-4268	CLIP-seq
MIRT1269651	hsa-miR-4438	CLIP-seq
MIRT1269652	hsa-miR-4525	CLIP-seq
MIRT2079260	hsa-miR-455-5p	CLIP-seq
MIRT1269654	hsa-miR-4665-5p	CLIP-seq
MIRT1269655	hsa-miR-4723-5p	CLIP-seq
MIRT1269657	hsa-miR-484	CLIP-seq
MIRT1269659	hsa-miR-625	CLIP-seq
MIRT2305594	hsa-miR-1264	CLIP-seq
MIRT1269638	hsa-miR-1302	CLIP-seq
MIRT1269640	hsa-miR-214	CLIP-seq
MIRT2079257	hsa-miR-296-5p	CLIP-seq
MIRT2305595	hsa-miR-298	CLIP-seq
MIRT1269643	hsa-miR-3619-5p	CLIP-seq
MIRT2079259	hsa-miR-3918	CLIP-seq
MIRT1269644	hsa-miR-3919	CLIP-seq
MIRT1269645	hsa-miR-3925-5p	CLIP-seq
MIRT2305596	hsa-miR-3944-5p	CLIP-seq
MIRT2305597	hsa-miR-4266	CLIP-seq
MIRT1269648	hsa-miR-4291	CLIP-seq
MIRT1269649	hsa-miR-4298	CLIP-seq
MIRT2079260	hsa-miR-455-5p	CLIP-seq
MIRT1269653	hsa-miR-4648	CLIP-seq
MIRT1269658	hsa-miR-570	CLIP-seq
MIRT1269660	hsa-miR-761	CLIP-seq
MIRT1269661	hsa-miR-922	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	15274632
GO:0005515	Function	Protein binding	IPI	15322109, 16641999, 18201567, 23685131, 30559186, 32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IDA	15274632
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	15274632
GO:0005794	Component	Golgi apparatus	IDA	15274632
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	15274632
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006509	Process	Membrane protein ectodomain proteolysis	IDA	15274632
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007220	Process	Notch receptor processing	IBA
GO:0007220	Process	Notch receptor processing	IEA
GO:0007220	Process	Notch receptor processing	NAS	10206645
GO:0007220	Process	Notch receptor processing	TAS	15274632
GO:0010008	Component	Endosome membrane	TAS
GO:0010950	Process	Positive regulation of endopeptidase activity	IMP	12660785
GO:0016020	Component	Membrane	IDA	25043039, 26280335
GO:0016020	Component	Membrane	IEA
GO:0016485	Process	Protein processing	IDA	15274632
GO:0016485	Process	Protein processing	IEA
GO:0016485	Process	Protein processing	IGI	12763021
GO:0016485	Process	Protein processing	IMP	12522139, 12660785
GO:0019899	Function	Enzyme binding	IPI	12522139
GO:0031293	Process	Membrane protein intracellular domain proteolysis	IDA	15274632
GO:0031293	Process	Membrane protein intracellular domain proteolysis	ISS
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0034205	Process	Amyloid-beta formation	IGI	12763021
GO:0034205	Process	Amyloid-beta formation	IMP	12660785, 25043039, 26280335
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042982	Process	Amyloid precursor protein metabolic process	IDA	25043039, 26280335
GO:0042987	Process	Amyloid precursor protein catabolic process	IDA	15274632
GO:0042987	Process	Amyloid precursor protein catabolic process	IGI	12763021
GO:0042987	Process	Amyloid precursor protein catabolic process	IMP	12660785
GO:0042987	Process	Amyloid precursor protein catabolic process	ISS
GO:0042987	Process	Amyloid precursor protein catabolic process	TAS	15274632
GO:0061133	Function	Endopeptidase activator activity	IEA
GO:0061133	Function	Endopeptidase activator activity	IGI	12763021
GO:0061133	Function	Endopeptidase activator activity	IMP	12522139
GO:0070765	Component	Gamma-secretase complex	IBA
GO:0070765	Component	Gamma-secretase complex	IDA	25043039, 26280335
GO:0070765	Component	Gamma-secretase complex	IEA
GO:0070765	Component	Gamma-secretase complex	IGI	12763021
GO:0070765	Component	Gamma-secretase complex	IPI	26280335
GO:0070765	Component	Gamma-secretase complex	ISS

MIM	HGNC	e!Ensembl
607632	30100	ENSG00000205155

Q9NZ42

Protein name

Gamma-secretase subunit PEN-2 (Presenilin enhancer protein 2)

Protein function

Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12522139, PubMed:12679784,

PDB

5A63 , 5FN2 , 5FN3 , 5FN4 , 5FN5 , 6IDF , 6IYC , 6LQG , 6LR4 , 7C9I , 7D8X , 7Y5T , 7Y5X , 7Y5Z , 8IM7 , 8K8E , 8KCO , 8KCP , 8KCS , 8KCT , 8KCU , 8OQY , 8OQZ , 8X52 , 8X53 , 8X54

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10251	PEN-2	7 → 99	Presenilin enhancer-2 subunit of gamma secretase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. {ECO:0000269|PubMed:12110170, ECO:0000269|PubMed:12740439}.

Sequence

MNLERVSNEEKLNLCRKYYLGGFAFLPFLWLVNIFWFFREAFLVPAYTEQSQIKGYVWRS
AVGFLFWVIVLTSWITIFQIYRPRWGALGDYLSFTIPLGTP

Sequence length

101

Interactions

View interactions

	KEGG		Reactome
	Notch signaling pathway Alzheimer disease		Nuclear signaling by ERBB4 Regulated proteolysis of p75NTR NRIF signals cell death from the nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants EPH-ephrin mediated repulsion of cells NOTCH3 Activation and Transmission of Signal to the Nucleus Noncanonical activation of NOTCH3 Amyloid fiber formation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acne inversa, familial, 2	Pathogenic	rs1555738837, rs1555738943, rs1555738763, rs1555738906, rs1555738903, rs1555738836	RCV000023658 RCV000023659 RCV000515755 RCV000515757 RCV000515753 RCV000515756 RCV000515758 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Pathogenic	rs1555738837	RCV005867794	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DOWLING-DEGOS DISEASE	—	Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSENEN-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE	ACNE INVERSA WITH OR WITHOUT DOWLING-DEGOS DISEASE	GENOMICS_ENGLAND_DG	20929727, 28922471		★★★★★ ★☆☆☆☆ Found in Text Mining only
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE	ACNE INVERSA WITH OR WITHOUT DOWLING-DEGOS DISEASE	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	12639958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17280645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	26044244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26967585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dowling Degos Disease	Dowling degos disease	Pubtator	27900998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
dowling-degos disease	Dowling-Degos Disease	GENOMICS_ENGLAND_DG	20929727		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	BEFREE	28287404, 28922471		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
dowling-degos disease	Dowling-Degos Disease	ORPHANET_DG	28287404		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling-Degos disease	Dowling-Degos Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	26967585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	15781968, 16170650, 22055974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	GENOMICS_ENGLAND_DG	20929727, 28922471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	28287404, 28922471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis suppurativa, familial	Hidradenitis suppurativa	CTD_human_DG	20929727		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis suppurativa, familial	Hidradenitis suppurativa	BEFREE	28922471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30944650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18395423		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34964690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Hidradenitis suppurativa	Hidradenitis suppurativa	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28287404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30944650		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25808939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Perifolliculitis	Perifolliculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PSENEN (presenilin enhancer, gamma-secretase subunit)