GABBR2 - gamma-aminobutyric acid type B receptor subunit 2 Gene

中文名称：γ-氨基丁酸 B 型受体亚基 2

种属: Homo sapiens

同用名: HG20; DEE59; GPR51; EIEE59; GPRC3B; NDPLHS; GABABR2; HRIHFB2099

基因 ID: 9568 | 基因类型: protein coding

关于 GABBR2

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,288,109-98,708,935 (from NCBI)

This gene has 12 transcripts (splice variants), 241 orthologues, 2 paralogues and is associated with 5 phenotypes. Restricted expression toward brain (RPKM 33.5).

功能概要

该基因编码的多通膜蛋白属于 G 蛋白偶联受体 3 家族和 GABA-B 受体亚家族。 GABA-B 受体通过 G 蛋白偶联的第二信使系统抑制神经元活动，该系统调节神经递质的释放以及离子通道和腺苷酸环化酶的活性。该受体亚基与 GABA-B 受体亚基 1 形成活性异二聚体复合物，两者均无效。该基因的等位基因变异与尼古丁依赖有关。[RefSeq 提供，2010 年 1 月]

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]

GABBR2 基因产物(1)

mRNA	Protein	Name
NM_005458.8	NP_005449.5	gamma-aminobutyric acid type B receptor subunit 2 precursor

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
contributes to G protein-coupled GABA receptor activity	IDA IDA: 通过直接分析推断	9872316	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16724110	GOA
enables protein heterodimerization activity	IPI IPI: 通过物理相互作用推断	15304491	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA IDA: 通过直接分析推断	987231	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: 通过直接分析推断	987231	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of G protein-coupled GABA receptor complex	IPI IPI: 通过物理相互作用推断	24305054	GOA
part of G protein-coupled receptor heterodimeric complex	IPI IPI: 通过物理相互作用推断	9872316	GOA
part of GABA receptor complex	IDA IDA: 通过直接分析推断	15304491	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	9872316	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

GABBR2 蛋白结构

ANF_receptor

7tm_3

0
200
400
600
800
941 a.a.

蛋白主名

其他名称

gamma-aminobutyric acid type B receptor subunit 2

G-protein coupled receptor 51

GABBR2 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	GABBR2	O75899	RIMS1	Homo sapiens	Q86UR5	Anti Bait CoIP	37207277
种属内	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5-2	3D-EM-Single	32580208
种属内	GABBR2	O75899	NSF	Homo sapiens	P46459	Anti Bait CoIP	16724110
种属内	GABBR2	O75899	NSF	Homo sapiens	P46459	Y2H	16724110
种属内	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5	GMS	32555460
种属内	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5	3D-EM-Single	32555460

种属间: 跨种属相互作用 种属内: 同种属相互作用

GABBR2 抗体

目录号	产品名	应用	反应物种
HY-P81988	GABA B Receptor 2 Antibody (YA1733)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills

NDPLHS

Developmental And Epileptic Encephalopathy 59

DEE59	Epileptic Encephalopathy, Early Infantile, 59
Eiee59	Developmental And Epileptic Encephalopathy, 59
Early Infantile Epileptic Encephalopathy 59	Encephalopathy, Developmental And Epileptic, Type 59

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

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

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Schizophrenia 7

SCZD7	Schizophrenia Susceptibility Locus, Chromosome 13q-Related
Schizophrenia 7 With Or Without An Affective Disorder

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05205	GABBR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	GABBR2	VGNC	VGNC:29188
Macaca mulatta	GABBR2	VGNC	VGNC:72925
Mus musculus	GABBR2	MGD	MGI:2386030
Felis catus	GABBR2	VGNC	VGNC:67432
Rattus norvegicus	GABBR2	RGD	RGD:619864
Canis familiaris	GABBR2	VGNC	VGNC:41049

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