GRIA4 - glutamate ionotropic receptor AMPA type subunit 4 Gene

中文名称：谷氨酸离子型受体 AMPA 型亚基 4

种属: Homo sapiens

同用名: GLUR4; GLURD; GluA4; GLUR4C; NEDSGA; GluA4-ATD

基因 ID: 2893 | 基因类型: protein coding

关于 GRIA4

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:105,609,616-105,982,090 (from NCBI)

This gene has 16 transcripts (splice variants), 251 orthologues, 17 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 8.8), adrenal (RPKM 0.9) and 1 other tissue.

功能概要

谷氨酸受体是哺乳动物大脑中主要的兴奋性神经递质受体，在各种正常的神经生理过程中被激活。这些受体是由多个亚基组成的异聚蛋白复合物，排列形成配体门控离子通道。谷氨酸受体的分类基于它们被不同的药理学激动剂激活。该基因编码的亚基属于 AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate) 敏感谷氨酸受体家族，可进行 RNA 编辑 (AGA->GGA; R-> G) 。该基因的可变剪接导致编码不同亚型的转录变体，这些亚型的信号转导特性可能不同。该基因的一些单倍型显示与精神分裂症呈正相关。[RefSeq 提供，2008 年 7 月]

Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. Some haplotypes of this gene show a positive association with schizophrenia. [provided by RefSeq, Jul 2008]

GRIA4 基因产物(4)

mRNA	Protein	Name
NM_000829.4	NP_000820.4	glutamate receptor 4 isoform 1 precursor
NM_001077243.3	NP_001070711.3	glutamate receptor 4 isoform 2 precursor
NM_001077244.2	NP_001070712.1	glutamate receptor 4 isoform 3 precursor
NM_001112812.2	NP_001106283.1	glutamate receptor 4 isoform 3 precursor

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables AMPA glutamate receptor activity	IDA IDA: 通过直接分析推断	21172611	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: 通过直接分析推断	12670305	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: 通过突变表型推断	12670305	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of smooth muscle cell apoptotic process	IGI IGI: 通过遗传相互作用推断	32151690	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

GRIA4 蛋白结构

ANF_receptor

Lig_chan-Glu_bd

Lig_chan

0
200
400
600
800
902 a.a.

蛋白主名

其他名称

glutamate receptor 4

AMPA-selective glutamate receptor 4

GRIA4 抗体

目录号	产品名	应用	反应物种
HY-P82144	GluA4 Antibody (YA1889)	WB, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities

NEDSGA

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Hyperekplexia 4

HKPX4

Barbiturate Dependence

Schizophrenia

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

Microcephaly And Chorioretinopathy 2

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

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

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

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS05794	GRIA4 Human 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	GRIA4	VGNC	VGNC:73274
Rattus norvegicus	GRIA4	RGD	RGD:61863
Felis catus	GRIA4	VGNC	VGNC:82479
Mus musculus	GRIA4	MGD	MGI:95811
Canis familiaris	GRIA4	VGNC	VGNC:41483
Bos taurus	GRIA4	VGNC	VGNC:59335

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