1. Gene
  2. GRIN2A - glutamate ionotropic receptor NMDA type subunit 2A Gene

GRIN2A - glutamate ionotropic receptor NMDA type subunit 2A Gene

Homo sapiens

Also known as LKS; EPND; FESD; NR2A; GluN2A; NMDAR2A

Gene ID: 2903 | Gene type: protein coding

About GRIN2A

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:9,753,404-10,182,908 (from NCBI)

This gene has 19 transcripts (splice variants), 232 orthologues, 17 paralogues and is associated with 132 phenotypes. Biased expression in brain (RPKM 9.5), heart (RPKM 0.9) and 2 other tissues.

Summary

This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GRIN2A Products(3)

mRNA Protein Name
NM_000833.5 NP_000824.1 glutamate receptor ionotropic, NMDA 2A isoform 1 precursor
NM_001134407.3 NP_001127879.1 glutamate receptor ionotropic, NMDA 2A isoform 1 precursor
NM_001134408.2 NP_001127880.1 glutamate receptor ionotropic, NMDA 2A isoform 2 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables NMDA glutamate receptor activity IDA
IDA: Inferred from direct assay
20890276 GOA
enables glutamate-gated calcium ion channel activity IDA
IDA: Inferred from direct assay
26875626 GOA
enables glutamate-gated calcium ion channel activity IMP
IMP: Inferred from mutant phenotype
27839871 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11937501 GOA
Biological Process GO Annotation Evidence Reference Source
involved in calcium ion transmembrane import into cytosol IDA
IDA: Inferred from direct assay
26875626 GOA
involved in calcium ion transmembrane import into cytosol IMP
IMP: Inferred from mutant phenotype
27839871 GOA
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
24504326 GOA
NOT involved in cellular response to amyloid-beta IGI
IGI: Inferred from genetic interaction
21883149 GOA
involved in response to ethanol IDA
IDA: Inferred from direct assay
18445116 GOA
involved in sodium ion transmembrane transport IDA
IDA: Inferred from direct assay
36117210 GOA
Cellular Component GO Annotation Evidence Reference Source
part of NMDA selective glutamate receptor complex IDA
IDA: Inferred from direct assay
10480938 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23933820 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

GRIN2A Protein Structure

ANF_receptor

ANF_receptor: Receptor family ligand binding region (114 - 265)

SBP_bac_3

SBP_bac_3: Bacterial extracellular solute-binding proteins, family 3 (457 - 797)

Lig_chan

Lig_chan: Ligand-gated ion channel (555 - 828)

NMDAR2_C

NMDAR2_C: N-methyl D-aspartate receptor 2B3 C-terminus (839 - 1464)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1464 a.a.
Protein Preferred Names Protein Names

glutamate receptor ionotropic, NMDA 2A

N-methyl D-aspartate receptor subtype 2A

Related Diseases

Diseases Alias
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development

Continuous Spike And Waves During Slow-Wave Sleep Syndrome

FESD

Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation

Aphasia, Acquired, With Epilepsy

Landau-Kleffner Syndrome

Acquired Aphasia With Epilepsy

Adresd

Bects

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Csws

Cswss

Lks

Resdad

Epilepsy, Focal, With Speech Disorder With/Without Mental Retardation

Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant

Benign Rolandic Epilepsy

Aphasia

Landau-Kleffner Syndrome

Acquired Epileptic Aphasia

Lks

Acquired Aphasia With Convulsive Disorder

Acquired Epileptiform Aphasia

Landau Kleffner Syndrome

Childhood Epileptic Aphasia

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2a Mutation
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous Spike-Wave During Slow Sleep Syndrome

Csws

Cswss Syndrome

Continuous Spikes And Waves During Sleep

Continuous Spikes And Waves During Slow-Wave Sleep

Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep

Continuous Spike And Waves During Slow Sleep

Continuous Spike And Waves During Slow-Wave Sleep Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 21

MRD21

Mental Retardation, Autosomal Dominant 21

Autosomal Dominant Non-Syndromic Intellectual Disability 21

Autosomal Dominant Intellectual Developmental Disorder 21

Autosomal Dominant Mental Retardation 21

Ctcf-Related Neurodevelopmental Disorder

Mental Retardation, Autosomal Dominant, Type 21

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

Speech Disorder

Speech Disorders

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

High Pressure Neurological Syndrome
Aphasia
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

Auditory Agnosia
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

Spontaneous Ocular Nystagmus

Visual Deprivation Nystagmus

Ocular Nystagmus

Searching Eye Movements

Nystagmus, Pathologic

Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

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

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Obsessive-Compulsive Disorder

OCD

Obsessive-Compulsive Disorder, Susceptibility To

Anancastic Neurosis

Obsessive Compulsive Disorder

Anankastic Neurosis

Obsessive-Compulsive Neurosis

Obsessive Compulsive Behavior

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

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

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Childhood Electroclinical Syndrome
Brunner Syndrome

Monoamine Oxidase A Deficiency

Antisocial Behavior

BRNRS

Deficiency Of Monoamine Oxidase A

X-Linked Monoamine Oxidase Deficiency

Susceptibility To Antisocial Behavior

Antisocial Behavior, Susceptibility To

Anti-Social Behavior

Anxiety

Anxiety Disorder

Anxiety Disorders

Anxiety State

Anxieties

Anxiety Neurosis

Narcolepsy

Paroxysmal Sleep

Gelineau Syndrome

Narcoleptic Syndrome

Narcolepsy-Cataplexy Syndrome

Cataplexy And Narcolepsy

Narcolepsy, Without Cataplexy

Gelineau'S Syndrome

Narcolepsy With Or Without Cataplexy

Narcolepsy Nos

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Toxic Encephalopathy

Neurotoxicity

Neurotoxicity Syndromes

Neurotoxicity Syndrome

Encephalopathy, Toxic

Mood Disorder

Mood Disorders

Episodic Mood Disorder

Specific Developmental Disorder
Retrograde Amnesia

Amnesia, Retrograde

Fetal Alcohol Syndrome

Fetal Alcohol Spectrum Disorders

Arbd

Arnd

Alcohol-Related Birth Defects

Alcohol-Related Neurodevelopmental Disorder

Fas

Fasd

Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk

Alcohol Related Birth Defect

Alcohol Related Neurodevelopmental Disorder

Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk

Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk

Dysmorphism Due To Alcohol

Fetal Etoh Syndrome

Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome

Amnestic Disorder

Amnesia

Amnestic Syndrome

Korsakoff'S Psychosis Or Syndrome

Amnesic Syndrome

Amnestic Disorder In Conditions Classified Elsewhere

Korsakoff Psychosis Or Syndrome, Nonalcoholic

Nonalcoholic Organic Amnesic Syndrome

Organic Amnesic Syndrome

Temporal Lobe Neoplasm

Neoplasm Of Temporal Lobe

Malignant Neoplasm Of Temporal Lobe

Tumor Of Temporal Lobe

Pervasive Developmental Disorder

Pervasive Development Disorder

Pervasive Developmental Disorders

Pervasive Child Development Disorders

Autistic Behavior

Autism Spectrum Disorders

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

Intellectual Disability, X-Linked, Syndromic 6

Intellectual Disability, X-Linked, With Gynecomastia And Obesity

Wilson Turner Intellectual Disability Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Disease Of Mental Health

Mental Health

Mental Disorders

Mental Depression

Depression

Depressive Disorder

Substance Dependence
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Learning Disability

Learning Disabilities

Learning Disorders

Academic Skill Disorder

Learning Disorder

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Adnfle

Autosomal Dominant Sleep-Related Hypermotor Epilepsy

Enfl

Benign Familial Infantile Seizures 6

Benign Familial Infantile Seizures, 6

Nocturnal Frontal Lobe Epilepsy-4

Enfl1

Epilepsy, Nocturnal Frontal Lobe, 1

Epilepsy, Nocturnal Frontal Lobe, Type 1

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Syndromic Intellectual Disability
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus

Choreatic Disease

Chorea

Hereditary Chorea

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

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Species Symbol Source ID
Rattus norvegicus GRIN2A RGD RGD:2737
Canis familiaris GRIN2A VGNC VGNC:41492
Felis catus GRIN2A VGNC VGNC:67471
Bos taurus GRIN2A VGNC VGNC:29646
Macaca mulatta GRIN2A VGNC VGNC:73282
Mus musculus GRIN2A MGD MGI:95820