GRIA4 - glutamate ionotropic receptor AMPA type subunit 4 Gene

Also Known as GLUR4; GLURD; GluA4; GLUR4C; NEDSGA; GluA4-ATD

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 2893

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence 参考文献 由来
enables AMPA glutamate receptor activity IDA
IDA: Inferred from direct assay
21172611 GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IDA
IDA: Inferred from direct assay
12670305 GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential IMP
IMP: Inferred from mutant phenotype
12670305 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in negative regulation of smooth muscle cell apoptotic process IGI
IGI: Inferred from genetic interaction
32151690 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

GRIA4 Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (41 - 378)

Lig_chan-Glu_bd

Lig_chan-Glu_bd: Ligated ion channel L-glutamate- and glycine-binding site (426 - 490)

Lig_chan

Lig_chan: Ligand-gated ion channel (545 - 825)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 902 a.a.
Protein Preferred Names Protein Names

glutamate receptor 4

  • AMPA-selective glutamate receptor 4

GRIA4 抗体

製品番号 製品名 アプリケーション 反応性
HY-P82144 GluA4 Antibody (YA1889) WB, FC Human, Mouse, Rat

関連疾患

Diseases Alias
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

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

Orthologs Information

生物種 Symbol 由来 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
Others GRIA4 NCBI