Gene
psen2
- ID
- ZDB-GENE-000330-9
- Name
- presenilin 2
- Symbol
- psen2 Nomenclature History
- Previous Names
-
- pre2 (1)
- zf-PS2
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have endopeptidase activity. Involved in several processes, including amyloid-beta formation; melanocyte differentiation; and nervous system development. Predicted to localize to several cellular components, including Z disc; 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. Is expressed in female organism; heart; male organism; and nervous system. Orthologous to human PSEN2 (presenilin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77583 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Alzheimer's disease 4 | Alliance | Alzheimer disease-4 | 606889 |
| dilated cardiomyopathy 1V | Alliance | Cardiomyopathy, dilated, 1V | 613697 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Peptidase A22A, presenilin | Presenilin, C-terminal | Presenilin/signal peptide peptidase |
|---|---|---|---|---|
|
UniProtKB:Q90ZE4
|
441 |
Interactions and Pathways
No data available
Plasmids