PSENEN

GENERAL INFORMATION

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Gene name

PSENEN

Gene description

Presenilin enhancer gamma secretase subunit

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA047435 , CAB013471
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PSENEN (HGNC Symbol)

Synonyms

PEN2

Description

Presenilin enhancer gamma secretase subunit (HGNC Symbol)

Entrez gene 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]

Chromosome

19

Cytoband

q13.12

Chromosome location (bp)

35745114 - 35747519

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000205155 (version 78.38)

Entrez gene

55851

UniProt

Q9NZ42 (UniProt - Evidence at protein level)

neXtProt

NX_Q9NZ42

Antibodypedia

PSENEN antibodies


PROTEIN BROWSER

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ENST00000222266
 
ENST00000587708
 
ENST00000591949
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSENEN-001 ENSP00000468411
ENST00000587708
Q9NZ42
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Show » Show » 101 12 No 2
PSENEN-002 ENSP00000222266
ENST00000222266
Q9NZ42
Show all »
Show » Show » 101 12 No 2
PSENEN-003 ENSP00000468593
ENST00000591949
K7ES79
Show all »
Show » 97 11.1 No 1