2. Gene
  3. GABRR2 - gamma-aminobutyric acid type A receptor subunit rho2 Gene

GABRR2 - gamma-aminobutyric acid type A receptor subunit rho2 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 rho2

种属: Homo sapiens

基因 ID: 2570 | 基因类型: protein coding

关于 GABRR2

Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,254,464-89,315,299 (from NCBI)

This gene has 3 transcripts (splice variants), 266 orthologues and 45 paralogues. Low expression observed in reference dataset.

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 受体，即配体门控氯离子通道。该基因编码的蛋白质是 rho 亚基家族的成员，是 GABA A 型受体复合物的组成部分。该基因位于编码 GABA A 型受体 rho 1 亚基的基因旁边的染色体 6q 上，该区域被认为与精神疾病和癫痫的易感性有关。该基因的多态性也可能与酒精依赖和一般认知能力有关。[RefSeq 提供，2016 年 4 月]

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. [provided by RefSeq, Apr 2016]

GABRR2 基因产物(1)

mRNA Protein Name
NM_002043.5 NP_002034.3 gamma-aminobutyric acid receptor subunit rho-2 precursor

GABRR2 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (62 - 261)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (268 - 373)

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  • 465 a.a.
蛋白主名 其他名称

gamma-aminobutyric acid receptor subunit rho-2

GABA-C receptor, rho-2 subunit

关联疾病

疾病名称 别名
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
Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential
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
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05226 GABRR2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GABRR2 RGD RGD:61902
Canis familiaris GABRR2 VGNC VGNC:57240
Felis catus GABRR2 VGNC VGNC:102427
Mus musculus GABRR2 MGD MGI:95626
Bos taurus GABRR2 VGNC VGNC:54398
Macaca mulatta GABRR2 VGNC VGNC:72861
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