PSEN2 - presenilin 2 Gene

Also Known as AD4; PS2; AD3L; STM2; CMD1V

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5664

About PSEN2

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:226,870,616-226,903,668 (from NCBI)

This gene has 37 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 4.6), prostate (RPKM 4.4) and 25 other tissues.

Summary

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 amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease Enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]

PSEN2 Products (2)

mRNA	Protein	Name
NM_000447.3	NP_000438.2	presenilin-2 isoform 1
NM_012486.3	NP_036618.2	presenilin-2 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9223340	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid-beta formation	IDA IDA: Inferred from direct assay	27608597	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	15274632	GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering	IMP IMP: Inferred from mutant phenotype	21285369	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	15274632	GOA
involved in regulation of calcium import into the mitochondrion	IMP IMP: Inferred from mutant phenotype	21285369	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15274632	GOA
located in centrosome	IDA IDA: Inferred from direct assay	9298903	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	15274632	GOA
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	12297508	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	9298903	GOA
located in nuclear inner membrane	IDA IDA: Inferred from direct assay	9298903	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	15274632	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	9632714	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSEN2 Protein Structure

Presenilin

0
100
200
300
400
448 a.a.

Protein Preferred Names	Protein Names
presenilin-2	AD3LP

PSEN2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PSEN2	P49810	SGSM1	Homo sapiens	Q2NKQ1-4	Validated Y2H	32814053
Intra	PSEN2	P49810	SGSM1	Homo sapiens	Q2NKQ1-4	Y2H Array	32814053
Intra	PSEN2	P49810	SGSM1	Homo sapiens	Q2NKQ1-4	Y2H Pooling	32814053
Intra	PSEN2	P49810	ARL16	Homo sapiens	Q0P5N6	Validated Y2H	32814053
Intra	PSEN2	P49810	ARL16	Homo sapiens	Q0P5N6	Y2H Pooling	32814053
Intra	PSEN2	P49810	ARL16	Homo sapiens	Q0P5N6	Y2H Array	32814053
Intra	PSEN2	P49810	AK2	Homo sapiens	P54819	Y2H Pooling	32814053
Intra	PSEN2	P49810	AK2	Homo sapiens	P54819	Validated Y2H	32814053
Intra	PSEN2	P49810	AK2	Homo sapiens	P54819	Y2H Array	32814053
Intra	PSEN2	P49810	SP6	Homo sapiens	Q3SY56	Validated Y2H	32814053
Intra	PSEN2	P49810	SP6	Homo sapiens	Q3SY56	Y2H Array	32814053
Intra	PSEN2	P49810	SP6	Homo sapiens	Q3SY56	Y2H Pooling	32814053
Intra	PSEN2	P49810	MKL1	Homo sapiens	A4FUJ8	Validated Y2H	32814053
Intra	PSEN2	P49810	MKL1	Homo sapiens	A4FUJ8	Y2H Pooling	32814053
Intra	PSEN2	P49810	MKL1	Homo sapiens	A4FUJ8	Y2H Array	32814053
Intra	PSEN2	P49810	ZNF366	Homo sapiens	Q8N895	Y2H Array	32814053
Intra	PSEN2	P49810	ZNF366	Homo sapiens	Q8N895	Y2H Pooling	32814053
Intra	PSEN2	P49810	ZNF366	Homo sapiens	Q8N895	Validated Y2H	32814053
Intra	PSEN2	P49810	MNDA	Homo sapiens	P41218	Y2H Pooling	32814053
Intra	PSEN2	P49810	MNDA	Homo sapiens	P41218	Validated Y2H	32814053
Intra	PSEN2	P49810	MNDA	Homo sapiens	P41218	Y2H Array	32814053
Intra	PSEN2	P49810	NEBL	Homo sapiens	O76041	Validated Y2H	32814053
Intra	PSEN2	P49810	NEBL	Homo sapiens	O76041	Y2H Pooling	32814053
Intra	PSEN2	P49810	NEBL	Homo sapiens	O76041	Y2H Array	32814053
Intra	PSEN2	P49810	DYNC1H1	Homo sapiens	Q14204	Y2H	21163940
Intra	PSEN2	P49810	SKIC8	Homo sapiens	Q9GZS3	Validated Y2H	32814053
Intra	PSEN2	P49810	SKIC8	Homo sapiens	Q9GZS3	Y2H Array	32814053
Intra	PSEN2	P49810	SKIC8	Homo sapiens	Q9GZS3	Y2H Pooling	32814053
Intra	PSEN2	P49810	ELL2	Homo sapiens	O00472	Validated Y2H	32814053
Intra	PSEN2	P49810	ELL2	Homo sapiens	O00472	Y2H Pooling	32814053
Intra	PSEN2	P49810	ELL2	Homo sapiens	O00472	Y2H Array	32814053
Intra	PSEN2	P49810	MGARP	Homo sapiens	Q8TDB4	Y2H Pooling	32814053
Intra	PSEN2	P49810	MGARP	Homo sapiens	Q8TDB4	Validated Y2H	32814053
Intra	PSEN2	P49810	MGARP	Homo sapiens	Q8TDB4	Y2H Array	32814053
Intra	PSEN2	P49810	BAK1	Homo sapiens	Q16611	Y2H Pooling	32814053
Intra	PSEN2	P49810	BAK1	Homo sapiens	Q16611	Validated Y2H	32814053
Intra	PSEN2	P49810	BAK1	Homo sapiens	Q16611	Y2H Array	32814053
Intra	PSEN2	P49810	FOXD4L6	Homo sapiens	Q3SYB3	Validated Y2H	32814053
Intra	PSEN2	P49810	FOXD4L6	Homo sapiens	Q3SYB3	Y2H Array	32814053
Intra	PSEN2	P49810	FOXD4L6	Homo sapiens	Q3SYB3	Y2H Pooling	32814053
Intra	PSEN2	P49810	ECSIT	Homo sapiens	Q9BQ95	Confocal	21163940
Intra	PSEN2	P49810	FTL	Homo sapiens	P02792	Validated Y2H	32814053
Intra	PSEN2	P49810	FTL	Homo sapiens	P02792	Y2H Array	32814053
Intra	PSEN2	P49810	FTL	Homo sapiens	P02792	Y2H Pooling	32814053
Intra	PSEN2	P49810	RNF2	Homo sapiens	Q99496	Validated Y2H	32814053
Intra	PSEN2	P49810	RNF2	Homo sapiens	Q99496	Y2H Array	32814053
Intra	PSEN2	P49810	RNF2	Homo sapiens	Q99496	Y2H Pooling	32814053
Intra	PSEN2	P49810	APP	Homo sapiens	P05067	Anti Bait CoIP	9223340
Intra	PSEN2	P49810	SOX14	Homo sapiens	O95416	Validated Y2H	32814053
Intra	PSEN2	P49810	SOX14	Homo sapiens	O95416	Y2H Array	32814053
Intra	PSEN2	P49810	SOX14	Homo sapiens	O95416	Y2H Pooling	32814053
Intra	PSEN2	P49810	PDCD4	Homo sapiens	Q53EL6	Y2H Array	21163940
Intra	PSEN2	P49810	PDCD4	Homo sapiens	Q53EL6	Anti Bait CoIP	21163940

Cross: Cross-species interaction Intra: Intraspecies interaction

PSEN2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81860	Presenilin 2 Antibody (YA1605)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P81860A	Presenilin 2 Antibody (YA1605)(PBS only)	WB, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P82133	Phospho-Presenilin 2 (Ser330) Antibody (YA1878)	WB	Human, Mouse, Rat
HY-P82133A	Phospho-Presenilin 2 (Ser330) Antibody (YA1878)(PBS only)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Alzheimer Disease 4	AD4 Alzheimer Disease-4 Alzheimer'S Disease 4 Alzheimer Disease, Familial, 4 Alzheimer Disease, Familial4 Alzheimer'S Disease 4, Early Onset Alzheimer Disease, Type 4
Cardiomyopathy, Dilated, 1v	CMD1V Dilated Cardiomyopathy 1v Cardiomyopathy, Dilated 1v Cardiomyopathy, Dilated, Type 1v
Early-Onset, Autosomal Dominant Alzheimer Disease	Familial Alzheimer Disease Early-Onset Autosomal Dominant Alzheimer Disease Eofad Early-Onset Familial Autosomal Dominant Alzheimer Disease Alzheimer'S Disease, Familial
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Huntington Disease-Like Syndrome	Huntington Disease-Like Syndromes Huntington'S Disease Phenocopies Huntington'S Disease Phenocopy Syndromes Huntington'S Disease-Like Syndromes Huntington Disease Phenocopy Syndrome
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Alzheimer Disease 3	AD3 Alzheimer Disease, Type 3 Alzheimer Disease, Type 3, With Spastic Paraparesis And Apraxia Alzheimer Disease, Type 3, With Spastic Paraparesis And Unusual Plaques Alzheimer'S Disease 3 Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Apraxia Alzheimer Disease 3, Early-Onset Alzheimer Disease, Familial, 3 Alzheimer Disease, Protection Against, Due To Apoe3-Christchurch Alzheimer Disease 3, Early Onset Alzheimer Disease Familial 3 Early-Onset Familial Alzheimer Disease 3 Familial Alzheimer Disease 3 Familial Alzheimer Disease 3 With Spastic Paraparesis And Apraxia Familial Alzheimer Disease 3 With Spastic Paraparesis And Unusual Plaques Alzheimer Disease, Familial, 3, With Spastic Paraparesis And Unusual Plaques Alzheimer Disease, Familial, Type 3
Simultanagnosia
Visual Agnosia	Primary Visual Agnosia
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Amyloidosis	Amyloid Disease Amyloid Amyloid Degeneration Amyloidosis Nos Amyloid Deposition Amyloid Infiltration Idiopathic Amyloidosis Hyaloid Degeneration Lardaceous Degeneration
Cerebral Amyloid Angiopathy, Cst3-Related	Cerebral Amyloid Angiopathy Hereditary Cerebral Hemorrhage With Amyloidosis Hchwa Hereditary Cystatin C Amyloid Angiopathy Cerebral Amyloid Angiopathy, Familial Amyloidosis, Cerebroarterial, Icelandic Type Amyloidosis Vi Cerebral Hemorrhage, Hereditary, With Amyloidosis Cst3-Related Cerebral Amyloid Angiopathy Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant Caa, Familial Cerebral Amyloid Angiopathy, Genetic Acys Amyloidosis Cst3-Related Amyloidosis Cystatin Amyloidosis Hchwa, Icelandic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type Amyloidosis 6 AMYL6 Acys Caa Cerebral Amyloid Angiopathy Cst3-Related Cerebroarterial Amyloidosis Icelandic Type Cystatin C Amyloidosis Hccaa Hchwai Hchwa-I Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type Cerebral Amyloid Angiopathy Familial Angiopathy, Amyloid, Cerebral, Cst3-Related Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Familial Cerebral Amyloid Angiopathy Cerebral Amyloid Angiopathy, Hereditary
Gerstmann Syndrome	Aphasia-Angular Gyrus Syndrome Developmental Gerstmann Syndrome Gs Gerstmann Badal Syndrome Gerstmann Tetrad Gerstmann'S Syndrome Developmental Gerstmann'S Syndrome
Shipyard Eye	Epidemic Keratoconjunctivitis Ekc
Acute Conjunctivitis
Cerebral Amyloid Angiopathy, App-Related	Hchwad Amyloidosis, Cerebroarterial, App-Related Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, Dutch, Italian, Iowa, Flemish, Arctic Variants App-Related Cerebral Amyloid Angiopathy Abetaa21g Amyloidosis Abeta Amyloidosis, Italian Type Abeta Amyloidosis, Arctic Type Abeta Amyloidosis, Iowa Type Abeta Amyloidosis, Dutch Type Hchwa-D Abeta Amyloidosis, Flemish Type Abetaa21g-Related Amyloidosis Hchwa, Flemish Type Hereditary Cerebral Hemorrhage With Amyloidosis, Flemish Type Abetae22k Amyloidosis Hchwa, Italian Type Hereditary Cerebral Hemorrhage With Amyloidosis, Italian Type Abetae22g Amyloidosis Hchwa, Arctic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Arctic Type Abetad23n Amyloidosis Hchwa, Iowa Type Hereditary Cerebral Hemorrhage With Amyloidosis, Iowa Type Abetal34v Amyloidosis Abeta Amyloidosis, Piedmont Type Abetal34v-Related Amyloidosis Hchwa, Piedmont Type Hereditary Cerebral Hemorrhage With Amyloidosis, Piedmont Type Abetae22q Amyloidosis Hchwa, Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis, Dutch Type CAA-APP Amyloidosis Cerebroarterial App-Related Amyloidosis Hereditary With Cerebral Hemorrhage Dutch Variant Cerebral Amyloid Angiopathy App-Related Arctic Variant Cerebral Amyloid Angiopathy App-Related Dutch Variant Cerebral Amyloid Angiopathy App-Related Flemish Variant Cerebral Amyloid Angiopathy App-Related Iowa Variant Cerebral Amyloid Angiopathy App-Related Italian Variant Familial Occipital Calcifications With Hemorrhagic Strokes Leukoencephalopathy Arterial Dysplasia Dementia Fochs-Ladd Hereditary Cerebral Amyloid Angiopathy Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Dutch Type Hereditary Cerebral Hemorrhage With Amyloidosis Italian Type Cerebral Hemorrhage With Amyloidosis, Hereditary, Dutch Type
Apperceptive Agnosia
Ideomotor Apraxia	Apraxia, Ideomotor Classic Apraxia Ideomotor Dyspraxia Limb-Kinetic Apraxia Transcortical Apraxia
Speech And Communication Disorders	Language Disorder Communication Disorder Language Disorders Communication Disorders Speech Language Disorder Speech-Language Disorder Communication Impairment Speech And Language Disorder
Pharyngoconjunctival Fever	Pharyngo-Conjunctival Fever Adenoviral Pharyngoconjunctivitis Adenovirus Infections, Human
Alexia	Dyslexia Dyslexia, Acquired Acquired Dyslexia Aphemesthaesia
Tactile Agnosia
Subjective Cognitive Decline
Mild Cognitive Impairment
Anosognosia
Agraphia
Chromosomal Duplication Syndrome
Prosopagnosia
Acute Hemorrhagic Conjunctivitis	Viral Conjunctivitis Conjunctivitis, Acute Hemorrhagic Apollo Disease Epidemic Hemorrhagic Conjunctivitis Viral Conjunctiva Disorder Viral Conjunctivitis Nos
Prion Disease	Spongiform Encephalopathy Transmissible Spongiform Encephalopathies Prion Diseases Prion Disease Pathway Transmissible Spongiform Encephalopathy Prion Induced Disorder Prion Protein Disease Inherited Human Transmissible Spongiform Encephalopathies Prion Protein Diseases Prion-Associated Disorders Prion-Induced Disorders Transmissible Dementias Tses Human Prion Disease Tse Encephalopathy, Transmissible Spongiform Prion Disease, Susceptibility To Spongiform Encephalopathies Human Transmissible Spongiform Encephalopathies, Inherited
Gerstmann-Straussler Disease	Gerstmann-Straussler-Scheinker Disease Gerstmann-Straussler-Scheinker Syndrome Prion Dementia Cerebral Amyloid Angiopathy, Prnp-Related GSD Gss Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In Cns Amyloidosis, Cerebral, With Spongiform Encephalopathy Subacute Spongiform Encephalopathy, Gerstmann-Straussler Type Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Amyloidosis Cerebral With Spongiform Encephalopathy Cerebellar Ataxia, Progressive Dementia, And Amyloid Deposits In The Central Nervous System Encephalopathy Subacute Spongiform Gerstmann-Straussler Type Gssd Gerstmann Straussler Scheinker Syndrome Cerebral Amyloidosis With Spongiform Encephalopathy Subacute Spongiform Encephalopathy Gerstmann-Straussler Type Gluthathione Synthetase Deficiency Gerstmann Straussler Syndrome
Nominal Aphasia	Anomia Anomic Aphasia
Cerebral Amyloid Angiopathy, Itm2b-Related, 1	Dementia, Familial British Fbd Presenile Dementia With Spastic Ataxia Familial British Dementia Abri Amyloidosis Cerebral Amyloid Angiopathy, British Type Itm2b-Related Cerebral Amyloid Angiopathy 1 Familial Dementia, British Type Cerebral Amyloid Angiopathy, Itm2b-Related 1 CAA-ITM2B1 Cerebral Amyloid Angiopathy British Type Dementia, Familial, British
Dyscalculia	Disorder Of Arithmetical Skills Mathematics Disorder Developmental Arithmetic Disorder
Fatal Familial Insomnia	Insomnia, Fatal Familial FFI Familial Fatal Insomnia Insomnia Familial Fatal Insomnia Fatal Familial Insomnia, Fatal, Familial Ffi - [Fatal Familial Insomnia]
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Nasu-Hakola Disease Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy Plosl Nhd Presenile Dementia With Bone Cysts Plo-Sl PLOSL1 Dementia, Prefrontal, With Bone Cysts Dementia, Progressive, With Lipomembranous Polycystic Osteodysplasia Brain-Bone-Fat Disease Progressive Dementia With Lipomembranous Polycystic Osteodysplasia Brain-Bone-Fat Disease
Writing Disorder
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Kuru	Kuru, Susceptibility To Kuru Encephalopathy Kuru Encephalitis Kuru Disease
Dementia, Lewy Body	Lewy Body Dementia Lewy Body Disease Diffuse Lewy Body Disease Dementia With Lewy Bodies DLB Autosomal Dominant Diffuse Lewy Body Disease Cortical Lewy Body Disease Dementia, Lewy Body, Susceptibility To Lewy Body Dementia, Susceptibility To Senile Dementia Of The Lewy Body Type Dementia Of The Lewy Body Type Lbd Diffuse Lewy Body Disease With Gaze Palsy Dysphasic Dementia Hereditary Lewy Body Type Senile Dementia Lewy Body Variant Of Alzheimer Disease Lewy Bodies Lewy Body Dlbd - [Diffuse Lewy Body Disease] Clbd - [Cortical Lewy Body Disease]
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Aphasia
Vascular Dementia	Dementia, Vascular Multi Infarct Dementia Multifocal Dementia Dementia Vascular Vascular Dementia, Susceptibility To Dementia, Multi-Infarct Multi-Infarct Dementia
Amnestic Disorder	Amnesia Amnestic Syndrome Korsakoff'S Psychosis Or Syndrome Amnesic Syndrome Amnestic Disorder In Conditions Classified Elsewhere Korsakoff Psychosis Or Syndrome, Nonalcoholic Nonalcoholic Organic Amnesic Syndrome Organic Amnesic Syndrome
Alzheimer'S Disease 1	Alzheimer Disease Type 1 Alzheimer'S Disease 1, Early Onset
Supranuclear Palsy, Progressive, 1	Progressive Supranuclear Palsy Steele-Richardson-Olszewski Syndrome Supranuclear Palsy, Progressive Progressive Supranuclear Ophthalmoplegia Psp PSNP1 Familial Progressive Supranuclear Palsy Richardson'S Syndrome Psp Syndrome Progressive Supranuclear Palsy 1 Supranuclear Palsy Progressive Ophthalmoplegia, Supranuclear, Progressive Steele-Richardson-Olszewksi Syndrome
Normal Pressure Hydrocephalus	Low Pressure Hydrocephalus Hydrocephalus Normal Pressure Hydrocephalus, Normal Pressure Normal Pressure Hydrocephalus Nos Nph - [Normal Pressure Hydrocephalus] Normal Pressure Hydrocephaly
Mitochondrial Dna Depletion Syndrome 12b
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Disease Of Mental Health	Mental Health Mental Disorders
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Movement Disease	Movement Disorders Movement Disorder
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11277	PSEN2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PSEN2	VGNC	VGNC:76436
Felis catus	PSEN2	VGNC	VGNC:69101
Rattus norvegicus	PSEN2	RGD	RGD:621060
Canis familiaris	PSEN2	VGNC	VGNC:45086
Mus musculus	PSEN2	MGD	MGI:109284
Bos taurus	PSEN2	VGNC	VGNC:33435
Others	PSEN2	NCBI