1. Gene
  2. GABRB3 - gamma-aminobutyric acid type A receptor subunit beta3 Gene

GABRB3 - gamma-aminobutyric acid type A receptor subunit beta3 Gene

中文名称:γ-氨基丁酸 A 型受体亚基 beta3

种属: Homo sapiens

同用名: ECA5; DEE43; EIEE43

基因 ID: 2562 | 基因类型: protein coding

关于 GABRB3

Cytogenetic location: 15q12 Genomic coordinates (GRCh38): 15:26,543,552-26,773,763 (from NCBI)

This gene has 26 transcripts (splice variants), 213 orthologues, 45 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 22.9), gall bladder (RPKM 6.3) and 7 other tissues.

功能概要

该基因编码配体门控离子通道家族的一个成员。编码的蛋白质是多亚基氯离子通道的亚基之一,该通道充当γ-氨基丁酸的受体,γ-氨基丁酸是哺乳动物神经系统的一种主要抑制性神经递质。该基因位于 15 号染色体的长臂上,与其他两个编码该家族相关亚基的基因成簇。该基因可能与包括 Angelman 综合征、Prader-Willi 综合征、非综合征性口面部裂隙、癫痫和自闭症在内的多种疾病的发病机制有关。已经描述了编码不同同种型的选择性剪接转录物变体。[RefSeq 提供,2013 年 7 月]

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit Chloride Channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two Other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GABRB3 基因产物(5)

mRNA Protein Name
NM_000814.6 NP_000805.1 gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor
NM_001191320.2 NP_001178249.1 gamma-aminobutyric acid receptor subunit beta-3 isoform 3
NM_001191321.3 NP_001178250.1 gamma-aminobutyric acid receptor subunit beta-3 isoform 4
NM_001278631.2 NP_001265560.1 gamma-aminobutyric acid receptor subunit beta-3 isoform 3
NM_021912.5 NP_068712.1 gamma-aminobutyric acid receptor subunit beta-3 isoform 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
enables GABA-A receptor activity IDA
IDA: 通过直接分析推断
14993607 GOA
enables GABA-A receptor activity IMP
IMP: 通过突变表型推断
22303015 GOA
enables GABA-gated chloride ion channel activity IDA
IDA: 通过直接分析推断
9039914 GOA
enables GABA-gated chloride ion channel activity IMP
IMP: 通过突变表型推断
22303015 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16537435 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to histamine IDA
IDA: 通过直接分析推断
18281286 GOA
involved in chloride transmembrane transport IDA
IDA: 通过直接分析推断
9039914 GOA
involved in chloride transmembrane transport IMP
IMP: 通过突变表型推断
22303015 GOA
involved in gamma-aminobutyric acid signaling pathway IDA
IDA: 通过直接分析推断
30602789 GOA
involved in gamma-aminobutyric acid signaling pathway IMP
IMP: 通过突变表型推断
26950270 GOA
involved in inhibitory synapse assembly IDA
IDA: 通过直接分析推断
25489750 GOA
involved in synaptic transmission, GABAergic IDA
IDA: 通过直接分析推断
14993607 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
part of GABA-A receptor complex IMP
IMP: 通过突变表型推断
22303015 GOA
part of GABA-A receptor complex IPI
IPI: 通过物理相互作用推断
30602789 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
26950270 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
22303015 GOA
is active in postsynaptic membrane IDA
IDA: 通过直接分析推断
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

GABRB3 蛋白结构

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (39 - 242)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (250 - 468)

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

gamma-aminobutyric acid receptor subunit beta-3

GABA-alpha receptor beta-2 subunit

GABRB3 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
GABRB3 P28472 GABRD Homo sapiens O14764 35355020
种属内
GABRB3 P28472 GABRA5 Homo sapiens P31644 30140029
种属内
GABRB3 P28472 GABRG2 Homo sapiens P18507 35355020
种属内
GABRB3 P28472 GABRB3 Homo sapiens P28472 24909990
种属内
GABRB3 P28472 GABRB3 Homo sapiens P28472 16537435
种属内
GABRB3 P28472 MEOX2 Homo sapiens Q6FHY5 24722188
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Epilepsy, Childhood Absence 5

Epilepsy, Childhood Absence, Susceptibility To, 5

ECA5

Epilepsy, Childhood Absence, Type 5

Developmental And Epileptic Encephalopathy 43

DEE43

Epileptic Encephalopathy, Early Infantile, 43

Eiee43

Developmental And Epileptic Encephalopathy, 43

Early Infantile Epileptic Encephalopathy 43

Epilepsy, Childhood Absence 1

Epilepsy, Childhood Absence, Susceptibility To, 1

Epilepsy, Childhood Absence, 1

ECA1

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

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

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

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

Childhood Electroclinical Syndrome
Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

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

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

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

Adolescence-Adult Electroclinical 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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Early Onset Absence Epilepsy
Childhood Disintegrative Disease

Childhood Disintegrative Disorder

Disintegrative Psychosis

Heller'S Syndrome

Symbiotic Psychosis

Dementia Infantilis

Heller Syndrome

Shared Paranoid Disorder

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

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]

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

Neonatal Period Electroclinical Syndrome
Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy

Epileptic Seizures, Tonic-Clonic

Grand Mal Epilepsy

Epilepsy, Tonic-Clonic

Infancy Electroclinical Syndrome
Atypical Autism

Pdd

Echolalia
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

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

Benign Familial Neonatal Epilepsy

Familial Neonatal Seizures

Bfns

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Seizures

Epilepsy Benign Neonatal Familial

Familial Benign Neonatal Convulsions

Benign Neonatal Familial Convulsions

Familial Benign Neonatal Epilepsy

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

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

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

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

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

Hyperekplexia

Hereditary Hyperekplexia

Kok Disease

Congenital Stiff Man Syndrome

Familial Startle Disease

Sthe

Stiff-Baby Syndrome

Hereditary Hyperexplexia

Startle Disease

Exaggerated Startle Reaction

Hyperexplexia Hereditary

Startle Disease, Familial

Startle Reaction, Exaggerated

Stiff-Man Syndrome, Congenital

Stiff-Person Syndrome, Congenital

Congenital Stiff-Man Syndrome

Congenital Stiff-Person Syndrome

Familial Hyperekplexia

Startle Syndrome

Stiff Baby Syndrome

Hyperekplexia, Hereditary

Stiff-Person Syndrome

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Orofacial Cleft

Cleft, Orofacial

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Macaca mulatta GABRB3 VGNC VGNC:72853
Felis catus GABRB3 VGNC VGNC:62425
Rattus norvegicus GABRB3 RGD RGD:2651
Canis familiaris GABRB3 VGNC VGNC:41060
Bos taurus GABRB3 VGNC VGNC:29197
Mus musculus GABRB3 MGD MGI:95621
Others GABRB3 NCBI