1. Gene
  2. PSEN2 - presenilin 2 Gene

PSEN2 - presenilin 2 Gene

Homo sapiens

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

Gene ID: 5664 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
9223340 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Presenilin: Presenilin (76 - 306)

Presenilin

Presenilin: Presenilin (349 - 439)

  • 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 Reference
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

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

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