GRID2 - glutamate ionotropic receptor delta type subunit 2 Gene

Also Known as GluD2; SCAR18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2895

About GRID2

Cytogenetic location: 4q22.1-q22.2 Genomic coordinates (GRCh38): 4:92,303,966-93,810,456 (from NCBI)

This gene has 9 transcripts (splice variants), 238 orthologues, 17 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

Summary

The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous Apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

GRID2 Products (2)

mRNA	Protein	Name
NM_001286838.1	NP_001273767.1	glutamate receptor ionotropic, delta-2 isoform 2 precursor
NM_001510.4	NP_001501.2	glutamate receptor ionotropic, delta-2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27418511	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in excitatory synapse assembly	IMP IMP: Inferred from mutant phenotype	27418511	GOA
involved in positive regulation of long-term synaptic depression	IMP IMP: Inferred from mutant phenotype	27418511	GOA
involved in positive regulation of synapse assembly	IMP IMP: Inferred from mutant phenotype	27418511	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GRID2 Protein Structure

ANF_receptor

SBP_bac_3

Lig_chan

0
200
400
600
800
1007 a.a.

Protein Preferred Names	Protein Names
glutamate receptor ionotropic, delta-2	gluR delta-2 subunit

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia, Autosomal Recessive 18	Autosomal Recessive Spinocerebellar Ataxia 18 SCAR18 Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency Autosomal Recessive Congenital Cerebellar Ataxia Due To Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency Spinocerebellar Ataxia, Autosomal Recessive, 18 Ataxia, Spinocerebellar, Autosomal Recessive, Type 18
Spinocerebellar Ataxia 18	Spinocerebellar Ataxia Type 18 SCA18 Smna Sensorimotor Neuropathy With Ataxia, Autosomal Dominant Sensorimotor Neuropathy With Ataxia Autosomal Dominant
Cerebellar Ataxia Type 42	Sca42
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Hereditary Spastic Paraplegia 51	Autosomal Dominant Spastic Paraplegia 51 Cpsq4 Spastic Quadriplegic Cerebral Palsy 4 Spg51 Spastic Paraplegia 51, Autosomal Recessive
Intellectual Developmental Disorder With Cardiac Arrhythmia	Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome IDDCA Intellectual Developmental Disorder, With Cardiac Arrhythmia
Spinocerebellar Ataxia, X-Linked 3	Scax3 X-Linked Spinocerebellar Ataxia 3 X-Linked Ataxia-Deafness Syndrome X-Linked Spinocerebellar Ataxia Type 3 Ataxia-Deafness Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 3 Ataxia-Deafness Syndrome X-Linked X-Linked Ataxia-Hearing Loss Syndrome Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4	Scax4 X-Linked Spinocerebellar Ataxia 4 X-Linked Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia Type 4 Ataxia-Dementia Syndrome, X-Linked Spinocerebellar Ataxia X-Linked Type 4 Ataxia-Dementia Syndrome X-Linked Spinocerebellar Ataxia, X-Linked, 4
Depersonalization Disorder	Neurotic Derealization Depersonalization Depersonalization/Derealization Disorder Depersonalisation-Derealization Syndrome Depersonalisation Disorder Depersonalisation Neurosis Depersonalisation Syndrome Feeling Of Unreality Feels Own Self Is Unreal Neurotic State With Depersonalisation Neurotic State With Depersonalization Episode
Spinocerebellar Ataxia 5	Spinocerebellar Ataxia Type 5 SCA5 Spinocerebellar Ataxia-5 Ataxia, Spinocerebellar, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 20	Autosomal Recessive Spinocerebellar Ataxia 20 SCAR20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome Autosomal Recessive Spinocerebellar Ataxia Type 20 Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 20 Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05796	GRID2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GRID2	VGNC	VGNC:106760
Felis catus	GRID2	VGNC	VGNC:67465
Canis familiaris	GRID2	VGNC	VGNC:41484
Rattus norvegicus	GRID2	RGD	RGD:68368
Mus musculus	GRID2	MGD	MGI:95813
Macaca mulatta	GRID2	VGNC	VGNC:73276
Others	GRID2	NCBI