PSENEN - presenilin enhancer, gamma-secretase subunit Gene

Also Known as PEN2; PEN-2; MDS033; ACNINV2; MSTP064

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55851

About PSENEN

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:35,745,651-35,747,519 (from NCBI)

This gene has 3 transcripts (splice variants), 186 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 43.8), lung (RPKM 19.9) and 25 other tissues.

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 mediates a wide range of developmental cell fates. Processing of the beta-amyloid precursor protein generates neurotoxic amyloid beta peptides, the major component of senile plaques associated with Alzheimer's disease. This gene encodes a protein that is required for Notch pathway signaling, and for the activity and accumulation of gamma-secretase. Mutations resulting in haploinsufficiency for this gene cause familial acne inversa-2 (ACNINV2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

PSENEN Products (2)

mRNA	Protein	Name
NM_001281532.3	NP_001268461.1	gamma-secretase subunit PEN-2
NM_172341.4	NP_758844.1	gamma-secretase subunit PEN-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endopeptidase activator activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
enables endopeptidase activator activity	IMP IMP: Inferred from mutant phenotype	12522139	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	12522139	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15322109	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	15274632	GOA
involved in amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid precursor protein catabolic process	IMP IMP: Inferred from mutant phenotype	12660785	GOA
involved in amyloid precursor protein metabolic process	IDA IDA: Inferred from direct assay	25043039	GOA
involved in amyloid-beta formation	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid-beta formation	IMP IMP: Inferred from mutant phenotype	12660785	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in membrane protein intracellular domain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in positive regulation of endopeptidase activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in positive regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	12522139	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	15274632	GOA
involved in protein processing	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in protein processing	IMP IMP: Inferred from mutant phenotype	12522139	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15274632	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15274632	GOA
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	25043039	GOA
part of gamma-secretase complex	IGI IGI: Inferred from genetic interaction	12763021	GOA
part of gamma-secretase complex	IPI IPI: Inferred from physical interaction	26280335	GOA
located in membrane	IDA IDA: Inferred from direct assay	25043039	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15274632	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSENEN Protein Structure

PEN-2

0
101 a.a.

Protein Preferred Names	Protein Names
gamma-secretase subunit PEN-2	hematopoietic stem/progenitor cells protein MDS033

PSENEN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768-2	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768-2	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	CRB3	Homo sapiens	Q9BUF7-2	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	CRB3	Homo sapiens	Q9BUF7-2	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	SLC10A2	Homo sapiens	Q12908	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	SLC10A2	Homo sapiens	Q12908	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	PSENEN	Q9NZ42	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768	Anti Bait CoIP	15322109
Intra	PSENEN	Q9NZ42	PSEN1	Homo sapiens	P49768	Anti Tag CoIP	15322109
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Validated Y2H	32814053
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Y2H Pooling	32814053
Intra	PSENEN	Q9NZ42	FYN	Homo sapiens	P06241	Y2H Array	32814053
Intra	PSENEN	Q9NZ42	FTL	Homo sapiens	P02792	Y2H	23685131
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Y2H Array	32814053
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Y2H Pooling	32814053
Intra	PSENEN	Q9NZ42	CYTH1	Homo sapiens	Q15438	Validated Y2H	32814053
Intra	PSENEN	Q9NZ42	NCSTN	Homo sapiens	Q92542	Anti Bait CoIP	15322109

Cross: Cross-species interaction Intra: Intraspecies interaction

PSENEN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82373	PEN2 Antibody (YA2118)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	ACNINV2 Acne Inversa Familial Hidradenitis Suppurativa Familial Acne Inversa, Familial, 2
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Acne	Acne Vulgaris Acne Varioliformis Frontalis Acne
Hidradenitis Suppurativa	Acne Inversa Suppurative Hidradenitis Acne Inversa, Familial Apocrinitis Hidradenitides, Suppurative Hidradenitis, Suppurative Suppurative Hidradenitides Inverse Acne
Hidradenitis	Hydradenitis
Anal Canal Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Anal Canal
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Sweat Gland Disease	Sweat Gland Diseases
Sebaceous Gland Disease	Sebaceous Gland Anomaly Sebaceous Gland Diseases
Pain Agnosia	Analgesia
Agnosia	Dyspraxia Primary Visual Agnosia Dyspraxia Syndrome Monomodal Visual Amnesia Visual Amnesia Agnosia, Primary Visual Apraxias Alexia
Porokeratosis	Disseminated Superficial Actinic Porokeratosis Dsap Porokeratosis Of Mibelli Porokeratosis, Disseminated Superficial Actinic Porokeratosis, Disseminated Superficial Actinic, 1
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11278	PSENEN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PSENEN	VGNC	VGNC:99688
Canis familiaris	PSENEN	VGNC	VGNC:53755
Bos taurus	PSENEN	VGNC	VGNC:99676
Rattus norvegicus	PSENEN	RGD	RGD:1312037
Mus musculus	PSENEN	MGD	MGI:1913590
Others	PSENEN	NCBI