psen2 presenilin 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: psen2provided by ZNC
Official Full Name: presenilin 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-000330-9
See related: Ensembl:ENSDARG00000015540 AllianceGenome:ZFIN:ZDB-GENE-000330-9
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: pre2; zf-PS2
Summary: Predicted to enable endopeptidase activity. Acts upstream of or within several processes, including amyloid-beta formation; melanocyte differentiation; and nervous system development. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in several cellular components, including Z disc; ciliary rootlet; and dendritic shaft. Predicted to be integral component of plasma membrane. Is expressed in female organism; heart; male organism; and nervous system. Human ortholog(s) of this gene implicated in Alzheimer's disease; Alzheimer's disease 4; breast cancer; and dilated cardiomyopathy 1V. Orthologous to human PSEN2 (presenilin 2). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (51048975..51062375, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (50405176..50418576, complement)

Chromosome 1 - NC_007112.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Unraveling Presenilin 2 Functions in a Knockout Zebrafish Line to Shed Light into Alzheimer's Disease Pathogenesis.
Title: Unraveling Presenilin 2 Functions in a Knockout Zebrafish Line to Shed Light into Alzheimer's Disease Pathogenesis.
Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2.
Title: Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2.
PSEN2 is required for melanocytic skin pigmentation in adult zebrafish.
Title: The zebrafish orthologue of familial Alzheimer's disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation.
These results suggest that Psen2 plays a more prominent role in Notch signalling and embryo development in zebrafish than in mammals, and that the effect of reduced Psen2 can be ameliorated by Psen1 loss.
Title: Independent and cooperative action of Psen2 with Psen1 in zebrafish embryos.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IBA Inferred from Biological aspect of Ancestor more info
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info
enables aspartic-type endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axonal transport of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within regulation of autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within somite development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within startle response	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: presenilin-2

Names: PS-2

NP_571589.2

EC 3.4.23.-

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.