psen2.S presenilin 2 S homeolog [Xenopus laevis (African clawed frog)] - Gene

Summary

Official Symbol: psen2.S
Official Full Name: presenilin 2 S homeolog
Primary source: Xenbase:XB-GENE-6252626
Locus tag: XELAEV_18029032mg
See related: EnsemblRapid:ENSXLAG00005008186 AllianceGenome:Xenbase:XB-GENE-6252626
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Xenopus laevis
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Amphibia; Batrachia; Anura; Pipoidea; Pipidae; Xenopodinae; Xenopus; Xenopus
Also known as: ps-a; ps-b; psen2; X-ps-a; X-ps-b; ps-alpha
Summary: Predicted to enable aspartic endopeptidase activity, intramembrane cleaving. Predicted to act upstream of or within several processes, including amyloid precursor protein catabolic process; amyloid-beta metabolic process; and membrane protein ectodomain proteolysis. Predicted to be located in several cellular components, including bounding membrane of organelle; ciliary rootlet; and dendritic shaft. 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, Nov 2024]
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Genomic context

Location:: chromosome: 5S

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
101	current	Xenopus_laevis_v10.1 (GCF_017654675.1)	5S	NC_054380.1 (42423124..42451084, complement)
100	previous assembly	Xenopus_laevis_v2 (GCF_001663975.1)	5S	NC_030733.1 (42281697..42309390, complement)

Chromosome 5S - NC_054380.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by Xenbase

Function	Evidence Code	Pubs
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 endopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch receptor processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within amyloid-beta metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within calcium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within membrane protein ectodomain proteolysis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of apoptotic process	IEA Inferred from Electronic Annotation 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

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 Z disc	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
located_in dendritic shaft	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
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: presenilin-2

Names: PS-2; PS-beta; presenilin 2 (Alzheimer disease 4); presenilin-alpha; presenilin-beta

NP_001081211.1

EC 3.4.23.-

XP_018119743.1

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.

mRNA and Protein(s)

NM_001087742.1 → NP_001081211.1 presenilin-2

See identical proteins and their annotated locations for NP_001081211.1

Status: PROVISIONAL

Source sequence(s)

BC072862

UniProtKB/Swiss-Prot

O12977, Q6GQ85

UniProtKB/TrEMBL

A0A974CQU9

Related

ENSXLAP00005023514.1, ENSXLAT00005024219.1

Conserved Domains (1) summary

pfam01080
Location:85 → 439

Presenilin; Presenilin

RefSeqs of Annotated Genomes: Xenopus laevis Annotation Release 101 details...

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

Reference Xenopus_laevis_v10.1 Primary Assembly

Genomic

NC_054380.1 Reference Xenopus_laevis_v10.1 Primary Assembly

Range

42423124..42451084 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)