• Gene id: 5664

Gene Summary

• Gene Symbol: PSEN2   Gene   UCSC   Ensembl
• Aliases: AD3L, AD4, CMD1V, PS2, STM2
• Gene name: presenilin 2
• Alternate names: presenilin-2, AD3LP, AD5, Alzheimer disease 4, E5-1, PS-2, STM-2,
• Gene location: 1q42.13 (226870571: 226903828)     Exons: 16     NC_000001.11
• Gene summary(Entrez): Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of
• OMIM: 134921

SNPs

rs12520985

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

Protein Summary

• Protein general information: P49810  
  • Name: Presenilin 2 (PS 2) (EC 3.4.23. ) (AD3LP) (AD5) (E5 1) (STM 2) [Cleaved into: Presenilin 2 NTF subunit; Presenilin 2 CTF subunit]
  • Length: 448  
  • Mass: 50140
  • Tissue specificity: Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. {ECO
• Sequence:

  MLTFMASDSEEEVCDERTSLMSAESPTPRSCQEGRQGPEDGENTAQWRSQENEEDGEEDPDRYVCSGVPGRPPGL
  EEELTLKYGAKHVIMLFVPVTLCMIVVVATIKSVRFYTEKNGQLIYTPFTEDTPSVGQRLLNSVLNTLIMISVIV
  VMTIFLVVLYKYRCYKFIHGWLIMSSLMLLFLFTYIYLGEVLKTYNVAMDYPTLLLTVWNFGAVGMVCIHWKGPL
  VLQQAYLIMISALMALVFIKYLPEWSAWVILGAISVYDLVAVLCPKGPLRMLVETAQERNEPIFPALIYSSAMVW
  TVGMAKLDPSSQGALQLPYDPEMEEDSYDSFGEPSYPEVFEPPLTGYPGEELEEEEERGVKLGLGDFIFYSVLVG
  KAAATGSGDWNTTLACFVAILIGLCLTLLLLAVFKKALPALPISITFGLIFYFSTDNLVRPFMDTLASHQLYI

• Structural information:
  • Interpro: IPR001493  IPR001108  IPR006639  IPR042524  
  • STRING: ENSP00000355747
• Other Databases: GeneCards:  PSEN2  Malacards:  PSEN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006509	membrane protein ectodomain proteolysis	IDA	biological process
GO:0007220	Notch receptor processing	TAS	biological process
GO:0043085	positive regulation of catalytic activity	IDA	biological process
GO:0016485	protein processing	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0042987	amyloid precursor protein catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0050435	amyloid-beta metabolic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0045121	membrane raft	IBA	cellular component
GO:0043066	negative regulation of apoptotic process	IBA	biological process
GO:0042987	amyloid precursor protein catabolic process	IBA	biological process
GO:0035253	ciliary rootlet	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0006816	calcium ion transport	IBA	biological process
GO:0006509	membrane protein ectodomain proteolysis	IBA	biological process
GO:0005938	cell cortex	IBA	cellular component
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0043198	dendritic shaft	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0030426	growth cone	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0007220	Notch receptor processing	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004175	endopeptidase activity	IBA	molecular function
GO:0110097	regulation of calcium import into the mitochondrion	IMP	biological process
GO:1990456	mitochondrion-endoplasmic reticulum membrane tethering	IMP	biological process
GO:0004190	aspartic-type endopeptidase activity	IEA	molecular function
GO:0016485	protein processing	IEA	biological process
GO:0042987	amyloid precursor protein catabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042500	aspartic endopeptidase activity, intramembrane cleaving	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0031293	membrane protein intracellular domain proteolysis	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0035333	Notch receptor processing, ligand-dependent	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0001666	response to hypoxia	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005637	nuclear inner membrane	IDA	cellular component
GO:0000776	kinetochore	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04722	Neurotrophin signaling pathway
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Alzheimer disease	KEGG:H00056
Dilated cardiomyopathy	KEGG:H00294
Alzheimer disease	KEGG:H00056
Alzheimer's disease	PMID:9246481
Alzheimer's disease	PMID:10976645
Breast cancer	PMID:16474849
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq