ATP13A2 - ATPase cation transporting 13A2 Gene

Also Known as CLN12; KRPPD; PARK9; SPG78; HSA9947

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23400

About ATP13A2

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,985,958-17,011,928 (from NCBI)

This gene has 14 transcripts (splice variants), 213 orthologues, 21 paralogues and is associated with 6 phenotypes. Ubiquitous expression in brain (RPKM 19.6), spleen (RPKM 11.2) and 24 other tissues.

Summary

This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as Other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]

ATP13A2 Products (3)

mRNA	Protein	Name
NM_001141973.3	NP_001135445.1	polyamine-transporting ATPase 13A2 isoform 2
NM_001141974.3	NP_001135446.1	polyamine-transporting ATPase 13A2 isoform 3
NM_022089.4	NP_071372.1	polyamine-transporting ATPase 13A2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidic acid binding	IDA IDA: Inferred from direct assay	26134396	GOA
enables phosphatidylinositol-3,5-bisphosphate binding	IDA IDA: Inferred from direct assay	26134396	GOA
enables polyamine transmembrane transporter activity	IDA IDA: Inferred from direct assay	31996848	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22645275	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome organization	IDA IDA: Inferred from direct assay	22186024	GOA
involved in autophagosome-lysosome fusion	IMP IMP: Inferred from mutant phenotype	30538141	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	27278822	GOA
involved in cellular response to manganese ion	IMP IMP: Inferred from mutant phenotype	22285144	GOA
involved in cellular response to oxidative stress	IMP IMP: Inferred from mutant phenotype	26134396	GOA
involved in extracellular exosome biogenesis	IMP IMP: Inferred from mutant phenotype	25392495	GOA
involved in intracellular calcium ion homeostasis	IDA IDA: Inferred from direct assay	22186024	GOA
involved in intracellular iron ion homeostasis	IMP IMP: Inferred from mutant phenotype	26818499	GOA
involved in intracellular zinc ion homeostasis	IMP IMP: Inferred from mutant phenotype	24334770	GOA
involved in lipid homeostasis	IMP IMP: Inferred from mutant phenotype	31132336	GOA
involved in lysosomal transport	IMP IMP: Inferred from mutant phenotype	31996848	GOA
involved in peptidyl-aspartic acid autophosphorylation	IMP IMP: Inferred from mutant phenotype	26134396	GOA
involved in polyamine transmembrane transport	IDA IDA: Inferred from direct assay	23205587	GOA
involved in positive regulation of exosomal secretion	IDA IDA: Inferred from direct assay	24603074	GOA
involved in positive regulation of exosomal secretion	IMP IMP: Inferred from mutant phenotype	25392495	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	27278822	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	25392495	GOA
involved in protein localization to lysosome	IMP IMP: Inferred from mutant phenotype	30538141	GOA
involved in regulation of autophagosome size	IDA IDA: Inferred from direct assay	22186024	GOA
involved in regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	23499937	GOA
involved in regulation of lysosomal protein catabolic process	IGI IGI: Inferred from genetic interaction	24334770	GOA
involved in regulation of lysosomal protein catabolic process	IMP IMP: Inferred from mutant phenotype	23499937	GOA
involved in regulation of macroautophagy	IMP IMP: Inferred from mutant phenotype	22198378	GOA
involved in regulation of mitochondrion organization	IDA IDA: Inferred from direct assay	22186024	GOA
involved in regulation of mitochondrion organization	IMP IMP: Inferred from mutant phenotype	22198378	GOA
involved in regulation of protein localization to nucleus	IMP IMP: Inferred from mutant phenotype	27278822	GOA
involved in regulation of ubiquitin-specific protease activity	IMP IMP: Inferred from mutant phenotype	27278822	GOA
involved in spermine transmembrane transport	IMP IMP: Inferred from mutant phenotype	31996848	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in autophagosome	IDA IDA: Inferred from direct assay	24603074	GOA
located in late endosome	IDA IDA: Inferred from direct assay	25392495	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	29505581	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	23499937	GOA
located in lysosome	IDA IDA: Inferred from direct assay	16964263	GOA
located in multivesicular body	IDA IDA: Inferred from direct assay	24603074	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	22186024	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	22186024	GOA
located in transport vesicle	IDA IDA: Inferred from direct assay	22186024	GOA
located in vesicle	IDA IDA: Inferred from direct assay	24603074	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

ATP13A2 Protein Structure

P5-ATPase

E1-E2_ATPase

HAD

0
200
400
600
800
1000
1180 a.a.

Protein Preferred Names	Protein Names
polyamine-transporting ATPase 13A2	ATPase 13A2

ATP13A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP13A2	Q9NQ11	AAK1	Homo sapiens	Q2M2I8	Anti Tag CoIP	22645275
Intra	ATP13A2	Q9NQ11	AAK1	Homo sapiens	Q2M2I8	Ub Reconstruction	22645275
Intra	ATP13A2	Q9NQ11	YIF1A	Homo sapiens	O95070	Ub Reconstruction	22645275
Intra	ATP13A2	Q9NQ11	HDAC6	Homo sapiens	Q9UBN7	Anti Tag CoIP	22645275
Intra	ATP13A2	Q9NQ11	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	22645275
Intra	ATP13A2	Q9NQ11	GAK	Homo sapiens	O14976	Anti Tag CoIP	22645275
Intra	ATP13A2	Q9NQ11	GAK	Homo sapiens	O14976	Ub Reconstruction	22645275
Intra	ATP13A2	Q9NQ11	SYT11	Homo sapiens	Q9BT88	Ub Reconstruction	22645275
Intra	ATP13A2	Q9NQ11	BNIP3L	Homo sapiens	O60238	Ub Reconstruction	22645275

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Kufor-Rakeb Syndrome	Park9 Krppd KRS Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia Autosomal Recessive Parkinson Disease 9 Parkinson Disease 9 Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset Autosomal Recessive Juvenile Onset Parkinson Disease 9 Parkinson Disease Type 9 Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia Park 9 Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Cln12 Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Parkinson Disease Autosomal Recessive 9
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
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
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Juvenile-Onset Parkinson'S Disease	Juvenile-Onset Parkinson Disease
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonian-Pyramidal Syndrome Pallidopyramidal Syndrome Parkinson Disease 15, Autosomal Recessive PARK15 Pkps Pallido-Pyramidal Syndrome Parkinson'S Disease 15 Autosomal Recessive Early-Onset Parkinson Disease 15 Autosomal Recessive Early-Onset Parkinson'S Disease 15 Pallido-Pyramidal Disease Parkinson Disease 15 Parkinson Disease 15 Autosomal Recessive Pps Parkinson Disease, Type 15
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Ceroid Lipofuscinosis, Neuronal, 10	Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Neuronal Ceroid Lipofuscinosis 10 CLN10 Cathepsin D Deficiency Congenital Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient Cln10 Disease Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient Cln10 Disease, Adult Cln10 Disease, Congenital Cln10 Disease, Juvenile Cln10 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis Congenital Ncl Lipofuscinosis, Ceroid, Neuronal, Type 10 Neuronal Ceroid Lipofuscinosis, Congenital
Parkinsonism With Spasticity, X-Linked	X-Linked Parkinsonism-Spasticity Syndrome XPDS X-Linked Parkinsonism With Spasticity
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
Parkinson Disease 3, Autosomal Dominant	PARK3 Parkinson Disease 3 Parkinson Disease 3, Autosomal Dominant Lewy Body Parkinson'S Disease 3 Autosomal Dominant Lewy Body Parkinson Disease 3 Autosomal Dominant Parkinson Disease 3 Parkinson Disease Type 3 Autosomal Dominant Parkinson Disease Parkinson Disease, Autosomal Dominant Parkinson Disease, Familial, Type 1
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Neurodegeneration With Brain Iron Accumulation 2a	Infantile Neuroaxonal Dystrophy Plan Seitelberger Disease Inad Infantile Neuroaxonal Dystrophy 1 Inad1 Pla2g6-Associated Neurodegeneration NBIA2A Neuroaxonal Dystrophy, Infantile Neurodegeneration, Pla2g6-Associated Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Phospholipase A2-Associated Neurodegeneration Nbia2 Pla2g6-Related Disorders Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy Karak Syndrome, Included Nbia2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation 2b Nbia, Pla2g6-Related Seitelberger'S Disease Neurodegeneration Pla2g6-Associated Dystrophy, Neuroaxonal, Infantile Neurodegeneration, With Brain Iron Accumulation, Type 2a Neuroaxonal Dystrophies Neurodegeneration With Brain Iron Accumulation 2
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Dystonia 12	DYT12 Rdp Generalized Dystonia Dystonia-12 Rapid-Onset Dystonia-Parkinsonism Familial Dystonia Dystonia Musculorum Deformans Dystonic Disorders Idiopathic Familial Dystonia Dystonia-Parkinsonism, Rapid-Onset Fragments Of Torsion Dystonia Dyt-Atp1a3 Rapid-Onset Dystonia Parkinsonism Rodp Dystonia, Type 12 Dystonia 3, Torsion, X-Linked Idiopathic Non-Familial Dystonia Symptomatic Torsion Dystonia Dystonia Disorders
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Vascular Parkinsonism
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
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Perry Syndrome	Parkinsonism With Alveolar Hypoventilation And Mental Depression PERRYS
Spinocerebellar Ataxia, Autosomal Recessive 7	SCAR7 Autosomal Recessive Spinocerebellar Ataxia 7 Spinocerebellar Ataxia Autosomal Recessive 7 Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia, Autosomal Recessive, 7 Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Combined Oxidative Phosphorylation Deficiency 32	COXPD32
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Progressive Myoclonus Epilepsy 3	Cln14 Disease Epm3 Neuronal Ceroid Lipofuscinosis 14 Pme Type 3 Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency Progressive Myoclonus Epilepsy Type 3 Epilepsy, Progressive Myoclonic 3
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Movement Disease	Movement Disorders Movement Disorder
Neurodegeneration With Brain Iron Accumulation 4	NBIA4 Mpan Mitochondrial Protein-Associated Neurodegeneration Nbia Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Type 4 Mitochondrial Membrane Protein Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 4
Sphingolipidosis	Sphingolipidoses
Gaucher'S Disease	Gaucher Disease Kerasin Thesaurismosis Glucocerebrosidase Deficiency Glucosylceramidase Deficiency Cerebroside Lipidosis Syndrome Acid Beta-Glucosidase Deficiency Glucosylceramide Beta-Glucosidase Deficiency Acute Cerebral Gaucher Disease Gaucher Splenomegaly Glucocerebrosidosis Glucosyl Cerebroside Lipidosis Kerasin Lipoidosis Lipoid Histiocytosis Glocucerebrosidase Deficiency Sphingolipidosis 1 Gaucher Syndrome Gauchers Disease Gd Glucosylceramide Lipidosis Kerasin Histiocytosis Gaucher Disease, Type 1 Gaucher Disease, Type 2
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]
Gaucher Disease, Type I	Glucocerebrosidase Deficiency Acid Beta-Glucosidase Deficiency Gba Deficiency GD1 Gd I Gaucher Disease, Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Type I Gaucher'S Disease Type I Gaucher Disease Gd 1 Non-Cerebral Juvenile Gaucher Disease GD Gaucher Disease 1 Adult Non-Neuronopathic Gaucher Disease Noncerebral Juvenile Gaucher Disease Type 1 Gaucher Disease Gaucher Disease, Type 1
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
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B2176S7	ATP-13C2 dilithium		96.0%	Unkown
HY-RS01179	ATP13A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20208	Atp13a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26713	Atp13a2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP13A2	VGNC	VGNC:26278
Canis familiaris	ATP13A2	VGNC	VGNC:38242
Rattus norvegicus	ATP13A2	RGD	RGD:1307977
Mus musculus	ATP13A2	MGD	MGI:1922022
Macaca mulatta	ATP13A2	VGNC	VGNC:70155
Felis catus	ATP13A2	VGNC	VGNC:60016
Others	ATP13A2	NCBI