1. Gene
  2. SLC18A2 - solute carrier family 18 member A2 Gene

SLC18A2 - solute carrier family 18 member A2 Gene

中文名称:溶质载体家族 18 成员 A2

种属: Homo sapiens

同用名: SVAT; SVMT; VAT2; VMAT2; PKDYS2

基因 ID: 6571 | 基因类型: protein coding

关于 SLC18A2

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:117,241,114-117,279,430 (from NCBI)

This gene has 2 transcripts (splice variants), 224 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 12.2), ovary (RPKM 7.2) and 25 other tissues.

功能概要

该基因编码一种跨膜蛋白,作为依赖 ATP 的单胺转运蛋白发挥作用,例如多巴胺、去甲肾上腺素、血清素和组胺。这种蛋白质将胺类神经递质转运到突触小泡中。该基因的多态性可能与精神分裂症、双相情感障碍和其他神经/精神疾病有关。[RefSeq 提供,2018 年 6 月]

This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]

SLC18A2 基因产物(1)

mRNA Protein Name
NM_003054.6 NP_003045.2 synaptic vesicular amine transporter
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables monoamine:proton antiporter activity IDA
IDA: 通过直接分析推断
8643547 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in histamine uptake IDA
IDA: 通过直接分析推断
8860238 GOA
involved in serotonin uptake IDA
IDA: 通过直接分析推断
8643547 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

SLC18A2 蛋白结构

MFS_1

MFS_1: Major Facilitator Superfamily (101 - 417)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 514 a.a.
蛋白主名 其他名称

synaptic vesicular amine transporter

monoamine neurotransmitter transporter

SLC18A2 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
Intra SLC18A2 Q05940 TMEM109 Homo sapiens Q9BVC6
Validated Y2H
32296183
Intra SLC18A2 Q05940 TOMM6 Homo sapiens Q96B49
Validated Y2H
32296183
Intra SLC18A2 Q05940 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra SLC18A2 Q05940 CFHR5 Homo sapiens Q9BXR6
Validated Y2H
32296183
Intra SLC18A2 Q05940 GPR151 Homo sapiens Q8TDV0
Validated Y2H
32296183
Intra SLC18A2 Q05940 BRICD5 Homo sapiens Q6PL45-2
Validated Y2H
32296183
Intra SLC18A2 Q05940 NKG7 Homo sapiens Q16617
Validated Y2H
32296183
Intra SLC18A2 Q05940 MFSD5 Homo sapiens Q6N075
Validated Y2H
32296183
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
Parkinsonism-Dystonia 2, Infantile-Onset

Parkinsonism-Dystonia, Infantile, 2

PKDYS2

Brain Dopamine-Serotonin Vesicular Transport Disease
Cocaine Abuse

Cocaine-Related Disorders

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Amphetamine Abuse
Mastocytosis

Mast Cell Disease

Mast Cell Hyperplasia

Urticaria Pigmentosa

Malignant Mastocytoma

Malignant Mast Cell Tumours

Malignant Mastocytosis

Cocaine Dependence
Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder

Tic Disorders

Tic Disorder

Tic Disorder Nos

Tic Nos

Tic Spasm Nos

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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]

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

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Barbiturate Abuse
Gilles De La Tourette Syndrome

Tourette Syndrome

Tourette Disorder

GTS

Ts

Gilles De La Tourette'S Syndrome

Motor-Verbal Tic Disorder

Guinon'S Disease

Psychogenic Tics

Tourette'S Syndrome

Chronic Motor And Vocal Tic Disorder

Td

Tourette'S Disease

Combined Vocal And Multiple Motor Tic Disorder [De La Tourette]

Combined Vocal And Multiple Motor Tic Disorder

Tic De La Tourette

Choreatic Disease

Chorea

Hereditary Chorea

Movement Disease

Movement Disorders

Movement Disorder

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Aromatic L-Amino Acid Decarboxylase Deficiency

Aadc Deficiency

Dopa Decarboxylase Deficiency

Ddc Deficiency

Aromatic Amino Acid Decarboxylase Deficiency

Deficiency Of Aromatic-L-Amino-Acid Decarboxylase

AADCD

Aromatic-L-Amino-Acid Decarboxylase Deficiency

Aromatic L-Amino-Acid Decarboxylase Deficiency

Oculogyric Crisis
Vascular Parkinsonism
Tic Disorder

Tics

Behavioral Tic

Drug Psychosis

Drug-Induced Psychosis

Drug-Induced Psychotic Disorder

Psychoses, Substance-Induced

Psychoses, Drug

Drug-Induced Mental Disorder
Transient Tic Disorder
Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Dissociated Nystagmus
Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

Pts Deficiency

HPABH4A

Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency

Ptsd

Bh4-Deficient Hyperphenylalaninemia A

Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency

Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency

Hyperphenylalanemia, Bh4-Deficient, A

Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

6-Pyruvoyltetrahydropterin Synthase Deficiency

Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency

Ptpsd

Hyperphenylalaninemia, Bh4-Deficient, Type A

Central Nervous System Disease

Cns Disorder

CNS

Cns Diseases

Central Nervous System Diseases

Dopamine Beta-Hydroxylase Deficiency

Noradrenaline Deficiency

Norepinephrine Deficiency

Dopamine Beta Hydroxylase Deficiency

Congenital Dopamine Beta-Hydroxylase Deficiency

Dopamine Beta-Hydroxylase Deficiency, Congenital

Dopamine Β-Hydroxylase

Dbh Deficiency

Lingual-Facial-Buccal Dyskinesia

Orofacial Dyskinesia

Oro-Facial Dyskinesia

Dyskinesias

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Substance-Induced Psychosis
Mood Disorder

Mood Disorders

Episodic Mood Disorder

Impulse Control Disorder

Disruptive, Impulse Control, And Conduct Disorders

Bruxism

Sleep Bruxism

Sleep-Related Bruxism

Bruxism - Teeth Grinding

Grinding Teeth

Sleep Related Bruxism

Teeth Grinding

Sleep Related Teeth Grinding

Sleep Disorder

Sleep Disorders

Non-Organic Sleep Disorder

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

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

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

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
Canis familiaris SLC18A2 VGNC VGNC:46256
Rattus norvegicus SLC18A2 RGD RGD:3694
Bos taurus SLC18A2 VGNC VGNC:34706
Felis catus SLC18A2 VGNC VGNC:65227
Mus musculus SLC18A2 MGD MGI:106677
Macaca mulatta SLC18A2 VGNC VGNC:77407