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PSENEN presenilin enhancer, gamma-secretase subunit [ Homo sapiens (human) ]

Gene ID: 55851, updated on 16-Jul-2021

Summary

Official Symbol
PSENENprovided by HGNC
Official Full Name
presenilin enhancer, gamma-secretase subunitprovided by HGNC
Primary source
HGNC:HGNC:30100
See related
Ensembl:ENSG00000205155 MIM:607632
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEN2; PEN-2; MDS033; ACNINV2; MSTP064
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]
Expression
Ubiquitous expression in testis (RPKM 43.8), lung (RPKM 19.9) and 25 other tissues See more
Orthologs
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Genomic context

See PSENEN in Genome Data Viewer
Location:
19q13.12
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35745651..35747519)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36236552..36238420)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene lysine methyltransferase 2B Neighboring gene IGF like family receptor 1 Neighboring gene U2 small nuclear RNA auxiliary factor 1 like 4 Neighboring gene lin-37 DREAM MuvB core complex component Neighboring gene heat shock protein family B (small) member 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: LIN37

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endopeptidase activator activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables endopeptidase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch receptor processing TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid precursor protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in amyloid precursor protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein processing IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
part_of gamma-secretase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gamma-secretase subunit PEN-2
Names
hematopoietic stem/progenitor cells protein MDS033
presenilin enhancer 2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027934.1 RefSeqGene

    Range
    5059..6927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_222

mRNA and Protein(s)

  1. NM_001281532.3NP_001268461.1  gamma-secretase subunit PEN-2

    See identical proteins and their annotated locations for NP_001268461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA252937, AF220053, AI215167, BC009575, BE563017
    Consensus CDS
    CCDS12474.1
    UniProtKB/Swiss-Prot
    Q9NZ42
    Related
    ENSP00000222266.1, ENST00000222266.2
    Conserved Domains (1) summary
    pfam10251
    Location:799
    PEN-2; Presenilin enhancer-2 subunit of gamma secretase
  2. NM_172341.4NP_758844.1  gamma-secretase subunit PEN-2

    See identical proteins and their annotated locations for NP_758844.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA252937, AF220053, AI215167, BE563017
    Consensus CDS
    CCDS12474.1
    UniProtKB/Swiss-Prot
    Q9NZ42
    Related
    ENSP00000468411.1, ENST00000587708.7
    Conserved Domains (1) summary
    pfam10251
    Location:799
    PEN-2; Presenilin enhancer-2 subunit of gamma secretase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35745651..35747519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018468.4: Suppressed sequence

    Description
    NM_018468.4: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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