1. Gene
  2. ATP13A2 - ATPase cation transporting 13A2 Gene

ATP13A2 - ATPase cation transporting 13A2 Gene

中文名称:ATPase 阳离子转运 13A2

种属: Homo sapiens

同用名: CLN12; KRPPD; PARK9; SPG78; HSA9947

基因 ID: 23400 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 ATP 酶 P5 亚家族的一个成员,它转运无机阳离子和其他底物。该基因的突变与 Kufor-Rakeb 综合征 (KRS) 有关,也称为帕金森病 9。已发现该基因编码不同亚型的多个转录变体。[RefSeq 提供,2008 年 11 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidic acid binding IDA
IDA: 通过直接分析推断
26134396 GOA
enables phosphatidylinositol-3,5-bisphosphate binding IDA
IDA: 通过直接分析推断
26134396 GOA
enables polyamine transmembrane transporter activity IDA
IDA: 通过直接分析推断
31996848 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22645275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome organization IDA
IDA: 通过直接分析推断
22186024 GOA
involved in autophagosome-lysosome fusion IMP
IMP: 通过突变表型推断
30538141 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
27278822 GOA
involved in cellular response to manganese ion IMP
IMP: 通过突变表型推断
22285144 GOA
involved in cellular response to oxidative stress IMP
IMP: 通过突变表型推断
26134396 GOA
involved in extracellular exosome biogenesis IMP
IMP: 通过突变表型推断
25392495 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
22186024 GOA
involved in intracellular iron ion homeostasis IMP
IMP: 通过突变表型推断
26818499 GOA
involved in intracellular zinc ion homeostasis IMP
IMP: 通过突变表型推断
24334770 GOA
involved in lipid homeostasis IMP
IMP: 通过突变表型推断
31132336 GOA
involved in lysosomal transport IMP
IMP: 通过突变表型推断
31996848 GOA
involved in peptidyl-aspartic acid autophosphorylation IMP
IMP: 通过突变表型推断
26134396 GOA
involved in polyamine transmembrane transport IDA
IDA: 通过直接分析推断
23205587 GOA
involved in positive regulation of exosomal secretion IDA
IDA: 通过直接分析推断
24603074 GOA
involved in positive regulation of exosomal secretion IMP
IMP: 通过突变表型推断
25392495 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
27278822 GOA
involved in positive regulation of protein secretion IMP
IMP: 通过突变表型推断
25392495 GOA
involved in protein localization to lysosome IMP
IMP: 通过突变表型推断
30538141 GOA
involved in regulation of autophagosome size IDA
IDA: 通过直接分析推断
22186024 GOA
involved in regulation of endopeptidase activity IMP
IMP: 通过突变表型推断
23499937 GOA
involved in regulation of lysosomal protein catabolic process IGI
IGI: 通过遗传相互作用推断
24334770 GOA
involved in regulation of lysosomal protein catabolic process IMP
IMP: 通过突变表型推断
23499937 GOA
involved in regulation of macroautophagy IMP
IMP: 通过突变表型推断
22198378 GOA
involved in regulation of mitochondrion organization IDA
IDA: 通过直接分析推断
22186024 GOA
involved in regulation of mitochondrion organization IMP
IMP: 通过突变表型推断
22198378 GOA
involved in regulation of protein localization to nucleus IMP
IMP: 通过突变表型推断
27278822 GOA
involved in regulation of ubiquitin-specific protease activity IMP
IMP: 通过突变表型推断
27278822 GOA
involved in spermine transmembrane transport IMP
IMP: 通过突变表型推断
31996848 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in autophagosome IDA
IDA: 通过直接分析推断
24603074 GOA
located in late endosome IDA
IDA: 通过直接分析推断
25392495 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
29505581 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
23499937 GOA
located in lysosome IDA
IDA: 通过直接分析推断
16964263 GOA
located in multivesicular body IDA
IDA: 通过直接分析推断
24603074 GOA
located in neuron projection IDA
IDA: 通过直接分析推断
22186024 GOA
located in neuronal cell body IDA
IDA: 通过直接分析推断
22186024 GOA
located in transport vesicle IDA
IDA: 通过直接分析推断
22186024 GOA
located in vesicle IDA
IDA: 通过直接分析推断
24603074 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ATP13A2 蛋白结构

P5-ATPase

P5-ATPase: P5-type ATPase cation transporter (34 - 165)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (263 - 495)

HAD

HAD: haloacid dehalogenase-like hydrolase (510 - 887)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1180 a.a.
蛋白主名 其他名称

polyamine-transporting ATPase 13A2

ATPase 13A2

ATP13A2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ATP13A2 Q9NQ11 AAK1 Homo sapiens Q2M2I8 22645275
种属内
ATP13A2 Q9NQ11 AAK1 Homo sapiens Q2M2I8 22645275
种属内
ATP13A2 Q9NQ11 YIF1A Homo sapiens O95070 22645275
种属内
ATP13A2 Q9NQ11 HDAC6 Homo sapiens Q9UBN7 22645275
种属内
ATP13A2 Q9NQ11 HSPA8 Homo sapiens P11142 22645275
种属内
ATP13A2 Q9NQ11 GAK Homo sapiens O14976 22645275
种属内
ATP13A2 Q9NQ11 GAK Homo sapiens O14976 22645275
种属内
ATP13A2 Q9NQ11 SYT11 Homo sapiens Q9BT88 22645275
种属内
ATP13A2 Q9NQ11 BNIP3L Homo sapiens O60238 22645275
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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