2. Gene
  3. GRID2 - glutamate ionotropic receptor delta type subunit 2 Gene

GRID2 - glutamate ionotropic receptor delta type subunit 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as GluD2; SCAR18

Gene ID: 2895 | Gene type: protein coding

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

GRID2 Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (42 - 401)

SBP_bac_3

SBP_bac_3: Bacterial extracellular solute-binding proteins, family 3 (449 - 805)

Lig_chan

Lig_chan: Ligand-gated ion channel (567 - 842)

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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05796 GRID2 Human Pre-designed siRNA Set A Pre-designed Sets / 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