1. Gene
  2. GABRA2 - gamma-aminobutyric acid type A receptor subunit alpha2 Gene

GABRA2 - gamma-aminobutyric acid type A receptor subunit alpha2 Gene

中文名称:γ-氨基丁酸 A 型受体亚基 alpha2

种属: Homo sapiens

同用名: DEE78; EIEE78

基因 ID: 2555 | 基因类型: protein coding

关于 GABRA2

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,243,548-46,390,300 (from NCBI)

This gene has 16 transcripts (splice variants), 256 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 13.5), kidney (RPKM 1.1) and 1 other tissue.

功能概要

GABA 是哺乳动物大脑中的主要抑制性神经递质,它作用于 GABA-A 受体,即配体门控氯离子通道。这些通道的氯离子电导可以通过与 GABA-A 受体结合的药物 (例如苯二氮卓类药物) 进行调节。至少已鉴定出 16 个不同的 GABA-A 受体亚基。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2013 年 11 月]

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GABRA2 基因产物(16)

mRNA Protein Name
NM_000807.4 NP_000798.2 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001114175.3 NP_001107647.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001286827.3 NP_001273756.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform b
NM_001330690.2 NP_001317619.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377144.1 NP_001364073.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377145.1 NP_001364074.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377146.1 NP_001364075.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377147.1 NP_001364076.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377148.1 NP_001364077.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377149.1 NP_001364078.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377150.1 NP_001364079.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377151.1 NP_001364080.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377152.1 NP_001364081.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377153.1 NP_001364082.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377154.1 NP_001364083.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377155.1 NP_001364084.1 gamma-aminobutyric acid receptor subunit alpha-2 isoform e precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
9039914 GOA
involved in gamma-aminobutyric acid signaling pathway IMP
IMP: 通过突变表型推断
8391122 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GABA-A receptor complex IDA
IDA: 通过直接分析推断
9039914 GOA
located in synaptic vesicle membrane IDA
IDA: 通过直接分析推断
8391122 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

GABRA2 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (43 - 250)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (257 - 340)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (359 - 437)

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

gamma-aminobutyric acid receptor subunit alpha-2

GABA(A) receptor subunit alpha-2

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 78

DEE78

Epileptic Encephalopathy, Early Infantile, 78

Eiee78

Developmental And Epileptic Encephalopathy, 78

Early Infantile Epileptic Encephalopathy 78

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

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Cannabis Dependence

Marijuana Abuse

Cannabinoid Addiction

Cannabinoid Dependence

Cannabis Addiction

Substance Abuse

Substance-Related Disorders

Substance Abuse Problem

Conduct Disorder
Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Hallucinogen Dependence

Hallucinogen Addiction

Substance Dependence
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Pedophilia

Paedophilia

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Antisocial Personality Disorder

Dissocial Personality Disorder

Asocial Personality

Psychopath.Personality

Psychopathic Personality

Psychopathic Personality Disorder

Sociopathic Personality

Alcohol Use Disorder

Alcohol Abuse

Alcoholism

Ethanol Abuse

Alcohol Addiction

Alcohol Dependence

Alcoholic Intoxication, Chronic

Alcohol-Related Disorders

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis

ECTD14

Ectodermal Dysplasia 14

Ectn14

Cocaine Dependence
Drug Dependence
Oppositional Defiant Disorder

Disorder

Oppositional Defiance

Behavioural Disorder

Oppositional Defiance

Disruptive Mood Dysregulation Disorder

Tobacco Addiction

Nicotine Dependence

Tobacco Addiction, Susceptibility To

Nicotine Addiction

Tobacco Use Disorder

Smoking Habit

Nicotine Dependence, Protection Against

Nicotine Addiction, Protection From

Cigarette Habituation

Cigarette Habituation, Susceptibility To

Smoking Habit, Susceptibility To

Nicotine Dependence, Susceptibility To

Nicotine Addiction, Susceptibility To

Addiction, Tobacco, Susceptibility To

Compulsive Tobacco User Syndrome

Tobacco Dependence

Tobacco Dependence Syndrome

Cigarette Addiction

Cigarette Dependence

Smoking Addiction

Smokers Syndrome

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2

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

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Mus musculus GABRA2 MGD MGI:95614
Bos taurus GABRA2 VGNC VGNC:107246
Felis catus GABRA2 VGNC VGNC:62418
Rattus norvegicus GABRA2 RGD RGD:61856
Macaca mulatta GABRA2 VGNC VGNC:72847
Canis familiaris GABRA2 VGNC VGNC:41054