2. Gene
  3. GABRA4 - gamma-aminobutyric acid type A receptor subunit alpha4 Gene

GABRA4 - gamma-aminobutyric acid type A receptor subunit alpha4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：γ-氨基丁酸 A 型受体亚基 α4

种属: Homo sapiens

基因 ID: 2557 | 基因类型: protein coding

关于 GABRA4

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,918,900-46,993,581 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues and 45 paralogues. Biased expression in brain (RPKM 6.9) and heart (RPKM 1.7).

功能概要

γ-氨基丁酸 (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。该基因编码 alpha-4 亚基，它与自闭症的病因有关，并通过与另一个亚基 γ-氨基丁酸受体 beta-1 (GABRB1) 的相互作用最终增加自闭症风险。在该基因中发现了编码不同亚型的可变剪接转录本变体。[RefSeq 提供，2011 年 2 月]

Gamma-aminobutyric acid (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. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]

GABRA4 基因产物(3)

mRNA Protein Name
NM_000809.4 NP_000800.2 gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor
NM_001204266.2 NP_001191195.1 gamma-aminobutyric acid receptor subunit alpha-4 isoform 2
NM_001204267.2 NP_001191196.1 gamma-aminobutyric acid receptor subunit alpha-4 isoform 3
基因本体论
  • 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
35355020 GOA
involved in gamma-aminobutyric acid signaling pathway IDA
IDA: 通过直接分析推断
35355020 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GABA-A receptor complex IPI
IPI: 通过物理相互作用推断
35355020 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

GABRA4 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (49 - 256)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (263 - 538)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 554 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit alpha-4

GABA(A) receptor, alpha 4

关联疾病

疾病名称 别名
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Status Epilepticus

Grand Mal Status Epilepticus

Grand Mal Status

Gcse

Generalized Convulsive Status Epilepticus

Se

Epilepsy With Status Epilepticus
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To
Myoclonic Epilepsy, Juvenile 4

EJM4

Myoclonic Epilepsy, Juvenile, Susceptibility To, 4

Myoclonic Epilepsy, Juvenile, 4

Juvenile Myoclonic Epilepsy 4
Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41

Autosomal Dominant Non-Syndromic Intellectual Disability 41

Mental Retardation, Autosomal Dominant 41

Autosomal Dominant Intellectual Developmental Disorder 41

Autosomal Dominant Mental Retardation 41

Mental Retardation, Autosomal Dominant, Type 41
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
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
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
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
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05212 GABRA4 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20552 Gabra4 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27061 Gabra4 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta GABRA4 VGNC VGNC:72849
Felis catus GABRA4 VGNC VGNC:62420
Mus musculus GABRA4 MGD MGI:95616
Bos taurus GABRA4 VGNC VGNC:29193
Rattus norvegicus GABRA4 RGD RGD:621670
Canis familiaris GABRA4 VGNC VGNC:41056
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