1. Gene
  2. PSENEN - presenilin enhancer, gamma-secretase subunit Gene

PSENEN - presenilin enhancer, gamma-secretase subunit Gene

Homo sapiens

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

Gene ID: 55851 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

PEN-2: Presenilin enhancer-2 subunit of gamma secretase (6 - 99)

  • 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 Reference
Intra
PSENEN Q9NZ42 PSEN1 Homo sapiens P49768-2 32296183
Intra
PSENEN Q9NZ42 PSEN1 Homo sapiens P49768-2 32296183
Intra
PSENEN Q9NZ42 CRB3 Homo sapiens Q9BUF7-2 32296183
Intra
PSENEN Q9NZ42 CRB3 Homo sapiens Q9BUF7-2 32296183
Intra
PSENEN Q9NZ42 SLC10A2 Homo sapiens Q12908 32296183
Intra
PSENEN Q9NZ42 SLC10A2 Homo sapiens Q12908 32296183
Intra
PSENEN Q9NZ42 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
PSENEN Q9NZ42 SLC10A6 Homo sapiens Q3KNW5 32296183
Intra
PSENEN Q9NZ42 PSEN1 Homo sapiens P49768 15322109
Intra
PSENEN Q9NZ42 PSEN1 Homo sapiens P49768 15322109
Intra
PSENEN Q9NZ42 FYN Homo sapiens P06241 32814053
Intra
PSENEN Q9NZ42 FYN Homo sapiens P06241 32814053
Intra
PSENEN Q9NZ42 FYN Homo sapiens P06241 32814053
Intra
PSENEN Q9NZ42 FTL Homo sapiens P02792
Y2H
23685131
Intra
PSENEN Q9NZ42 CYTH1 Homo sapiens Q15438 32814053
Intra
PSENEN Q9NZ42 CYTH1 Homo sapiens Q15438 32814053
Intra
PSENEN Q9NZ42 CYTH1 Homo sapiens Q15438 32814053
Intra
PSENEN Q9NZ42 NCSTN Homo sapiens Q92542 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

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