GRIK2 - glutamate ionotropic receptor kainate type subunit 2 Gene

中文名称：谷氨酸离子型受体红藻氨酸亚基 2

种属: Homo sapiens

同用名: EAA4; GLR6; MRT6; GLUK6; GLUR6; GluK2; NEDLAS

基因 ID: 2898 | 基因类型: protein coding

关于 GRIK2

Cytogenetic location: 6q16.3 Genomic coordinates (GRCh38): 6:101,393,708-102,070,083 (from NCBI)

This gene has 41 transcripts (splice variants), 333 orthologues, 17 paralogues and is associated with 5 phenotypes. Biased expression in brain (RPKM 2.7), heart (RPKM 0.6) and 5 other tissues.

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。该基因产物属于谷氨酸受体的红藻氨酸家族，由四个亚基组成，起着配体激活离子通道的作用。由该基因编码的亚基在第一和第二跨膜结构域内的多个位点受到 RNA 编辑，这被认为会改变受体复合物的结构和功能。编码不同同种型的选择性剪接转录物变体也已针对该基因进行了描述。该基因的突变与常染色体隐性认知障碍有关。[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. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]

GRIK2 基因产物(3)

mRNA	Protein	Name
NM_001166247.1	NP_001159719.1	glutamate receptor ionotropic, kainate 2 isoform 3 precursor
NM_021956.5	NP_068775.1	glutamate receptor ionotropic, kainate 2 isoform 1 precursor
NM_175768.3	NP_786944.1	glutamate receptor ionotropic, kainate 2 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 extracellularly glutamate-gated ion channel activity	IMP IMP: 通过突变表型推断	28180184	GOA
enables glutamate-gated receptor activity	IDA IDA: 通过直接分析推断	7536611	GOA
enables glutamate-gated receptor activity	IMP IMP: 通过突变表型推断	34375587	GOA
enables kainate selective glutamate receptor activity	IDA IDA: 通过直接分析推断	15537878	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in modulation of chemical synaptic transmission	IDA IDA: 通过直接分析推断	15537878	GOA
involved in positive regulation of synaptic transmission	IMP IMP: 通过突变表型推断	15537878	GOA
involved in regulation of short-term neuronal synaptic plasticity	IMP IMP: 通过突变表型推断	15537878	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	14511640	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	34375587	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

GRIK2 蛋白结构

ANF_receptor

Lig_chan-Glu_bd

Lig_chan

0
200
400
600
800
908 a.a.

蛋白主名

其他名称

glutamate receptor ionotropic, kainate 2

GluK2(alt_5'UTR)

重组 GRIK2 蛋白

目录号	产品名	蛋白编号	纯度
HY-P75156	GRIK2 Protein, Human (HEK293, hFc)	Q13002/NP_001159719.1 (T32-P561)	≥95%

关联疾病

疾病名称

别名

Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures

NEDLAS

Intellectual Developmental Disorder, Autosomal Recessive 6

MRT6	Autosomal Recessive Intellectual Developmental Disorder 6

Cerebral Visual Impairment

Cortical Visual Impairment	Central Visual Impairment
Visual Cortex Disorder

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Obsessive-Compulsive Disorder

OCD	Obsessive-Compulsive Disorder, Susceptibility To
Anancastic Neurosis	Obsessive Compulsive Disorder
Anankastic Neurosis	Obsessive-Compulsive Neurosis
Obsessive Compulsive Behavior

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Brugada Syndrome 3

BRGDA3

Brugada Syndrome, Type 3

Non-Syndromic X-Linked Intellectual Disability 90

Mrx90

Schizophrenia

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

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Spherocytosis, Type 1

Hereditary Spherocytosis Type 1	SPH1
Hs1	Spherocytosis, Hereditary, 1
Sph	Hs
Hereditary Spherocytosis 1	Spherocytosis 1

Childhood Astrocytic Tumor

Juvenile Astrocytoma

Pediatric Astrocytoma

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

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

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

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

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-RS05799	GRIK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GRIK2	RGD	RGD:2733
Mus musculus	GRIK2	MGD	MGI:95815
Bos taurus	GRIK2	VGNC	VGNC:29643
Felis catus	GRIK2	VGNC	VGNC:67468
Canis familiaris	GRIK2	VGNC	VGNC:41487
Macaca mulatta	GRIK2	VGNC	VGNC:81075
Others	GRIK2	NCBI

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