2. Gene
  3. GABRB2 - gamma-aminobutyric acid type A receptor subunit beta2 Gene

GABRB2 - gamma-aminobutyric acid type A receptor subunit beta2 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 beta2

种属: Homo sapiens

同用名: DEE92; ICEE2

基因 ID: 2561 | 基因类型: protein coding

关于 GABRB2

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:161,288,436-161,548,404 (from NCBI)

This gene has 18 transcripts (splice variants), 277 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 22.7), spleen (RPKM 1.3) and 1 other tissue.

功能概要

γ-氨基丁酸 (GABA) A 受体是一种多亚基氯离子通道，可介导中枢神经系统中最快的抑制性突触传递。该基因编码 GABA A 受体，β 2 亚基。它被映射到由编码 GABA A 受体的 alpha 1 和 gamma 2 亚基的基因组成的簇中的染色体 5q34。该基因的选择性剪接产生 2 个转录本变体，相差 114 bp 插入。[RefSeq 提供，2008 年 7 月]

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]

GABRB2 基因产物(3)

mRNA Protein Name
NM_000813.3 NP_000804.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor
NM_001371727.1 NP_001358656.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor
NM_021911.3 NP_068711.1 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 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 GABA receptor activity IMP
IMP: 通过突变表型推断
27789573 GOA
contributes to GABA-gated chloride ion channel activity IDA
IDA: 通过直接分析推断
23909897 GOA
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
29950725 GOA
involved in gamma-aminobutyric acid signaling pathway IDA
IDA: 通过直接分析推断
29950725 GOA
involved in gamma-aminobutyric acid signaling pathway IMP
IMP: 通过突变表型推断
27789573 GOA
involved in inhibitory synapse assembly IDA
IDA: 通过直接分析推断
23909897 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
29950725 GOA
is active in dendritic spine IDA
IDA: 通过直接分析推断
25025157 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
27789573 GOA
is active in postsynaptic membrane IDA
IDA: 通过直接分析推断
9464994 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

GABRB2 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (38 - 242)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (249 - 507)

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

gamma-aminobutyric acid receptor subunit beta-2

GABA(A) receptor subunit beta-2

重组 GABRB2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71447 GABRB2 Protein, Human (His) P47870-1 (S26-Y244) ≥95%

GABRB2 抗体

目录号 产品名 应用 反应物种
HY-P82013 GABA A Receptor beta 2 Antibody (YA1758) WB Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 92

Epileptic Encephalopathy, Infantile Or Early Childhood, 2

IECEE2

DEE92

Encephalopathy, Epileptic, Infantile Or Early Childhood, Type 2
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Developmental And Epileptic Encephalopathy 74

DEE74

Epileptic Encephalopathy, Early Infantile, 74

Eiee74

Developmental And Epileptic Encephalopathy, 74

Early Infantile Epileptic Encephalopathy 74

Encephalopathy, Epileptic, Early Infantile, Type 74
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
Joubert Syndrome 31

JBTS31
Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome
Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs
Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]
Adolescence-Adult Electroclinical Syndrome
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
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts
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
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
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-RS05216 GABRB2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GABRB2 MGD MGI:95620
Felis catus GABRB2 VGNC VGNC:62424
Bos taurus GABRB2 VGNC VGNC:55210
Macaca mulatta GABRB2 VGNC VGNC:72852
Rattus norvegicus GABRB2 RGD RGD:2650
Canis familiaris GABRB2 VGNC VGNC:41059
Others GABRB2 NCBI
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