GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) - Rat Genome Database

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Gene: GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A) Homo sapiens
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Symbol: GRIN2A
Name: glutamate ionotropic receptor NMDA type subunit 2A
RGD ID: 732269
HGNC Page HGNC:4585
Description: Enables NMDA glutamate receptor activity and glutamate-gated calcium ion channel activity. Involved in calcium ion transmembrane import into cytosol; response to ethanol; and sodium ion transmembrane transport. Located in plasma membrane. Part of NMDA selective glutamate receptor complex. Implicated in several diseases, including Huntington's disease; alcohol dependence; bipolar disorder; colorectal cancer; and heroin dependence. Biomarker of Alzheimer's disease; nasopharynx carcinoma; opioid abuse; and vascular dementia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EPND; FESD; GluN2A; glutamate [NMDA] receptor subunit epsilon-1; glutamate ionotropic receptor NMDA 2A; glutamate receptor ionotropic, NMDA 2A; glutamate receptor, ionotropic, N-methyl D-aspartate 2A; hNR2A; LKS; N-methyl D-aspartate receptor subtype 2A; N-methyl-D-aspartate receptor channel, subunit epsilon-1; N-methyl-D-aspartate receptor subunit 2A; NMDA receptor subtype 2A; NMDAR2A; NR2A; RP11-297M9.2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38169,753,404 - 10,182,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl169,753,404 - 10,183,337 (-)EnsemblGRCh38hg38GRCh38
GRCh37169,847,261 - 10,276,765 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36169,762,923 - 10,184,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 34169,762,922 - 10,184,112NCBI
Celera1610,014,039 - 10,444,548 (-)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef169,767,577 - 9,952,307 (-)NCBIHuRef
HuRef1610,193,124 - 10,195,907 (-)NCBIHuRef
CHM1_1169,847,229 - 10,277,115 (-)NCBICHM1_1
T2T-CHM13v2.0169,786,917 - 10,217,640 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
alcohol dependence  (IAGP,ISO)
Alzheimer's disease  (IEP)
autistic disorder  (EXP)
autosomal dominant intellectual developmental disorder 21  (IAGP)
benign epilepsy with centrotemporal spikes  (EXP,IAGP)
bipolar disorder  (EXP,IAGP)
Brain Hypoxia-Ischemia  (ISO)
Central Nervous System Viral Diseases  (ISO)
Charcot-Marie-Tooth disease type 1C  (IAGP)
cognitive disorder  (ISO)
colorectal cancer  (IAGP,IDA)
Colorectal Neoplasms  (EXP)
developmental and epileptic encephalopathy 11  (IAGP)
Developmental Disabilities  (IAGP)
epilepsy  (EXP,IAGP)
familial temporal lobe epilepsy 1  (IAGP)
Fetal Growth Retardation  (ISO)
focal epilepsy  (IAGP)
Focal Epilepsy with Speech Disorder and with or without Mental Retardation  (IAGP)
GABA aminotransferase deficiency  (IAGP)
Generalized Epilepsy  (IAGP)
genetic disease  (IAGP)
heroin dependence  (IAGP)
Huntington's disease  (IAGP,ISO)
Hyperalgesia  (ISO)
hyperhomocysteinemia  (ISO)
intellectual disability  (IAGP)
Landau-Kleffner syndrome  (EXP,IAGP)
Language Development Disorders  (EXP)
melanoma  (EXP)
MHC class II deficiency  (IAGP)
microcephaly  (IAGP)
morphine dependence  (EXP)
nasopharynx carcinoma  (IEP)
neonatal abstinence syndrome  (HEP)
Neuralgia  (ISO)
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  (IAGP)
Neurodevelopmental Disorders  (IAGP)
opioid abuse  (IEP)
placental insufficiency  (ISO)
post-traumatic stress disorder  (ISO)
pyridoxine-dependent epilepsy  (IAGP)
Reperfusion Injury  (ISO)
schizophrenia  (IAGP,IDA)
Sepsis  (ISO)
speech disorder  (EXP)
status epilepticus  (ISO)
Tinnitus  (ISO)
transient cerebral ischemia  (ISO)
vascular dementia  (IAGP,IEP)
withdrawal disorder  (EXP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-pilocarpine  (ISO)
(25R)-cholest-5-ene-3beta,26-diol  (ISO)
(R)-lipoic acid  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
26-hydroxycholesterol  (ISO)
3',5'-cyclic AMP  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-[1-hydroxy-2-[4-(phenylmethyl)-1-piperidinyl]propyl]phenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetamiprid  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
allopurinol  (ISO)
alpha-pinene  (ISO)
Amaranth  (ISO)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
astragaloside IV  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Brilliant Blue  (ISO)
caffeine  (ISO)
celecoxib  (ISO)
chaetocin  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
clozapine  (ISO)
cocaine  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyanuric acid  (ISO)
cypermethrin  (EXP,ISO)
D-aspartic acid  (ISO)
dextromethorphan  (ISO)
Diacetoxyscirpenol  (ISO)
diazepam  (ISO)
diazinon  (ISO)
dinitrogen oxide  (ISO)
diphenyl diselenide  (ISO)
dizocilpine maleate  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylparaben  (EXP)
excitatory amino acid agonist  (EXP)
felbamate  (ISO)
fentanyl  (ISO)
Fluorocitric acid  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
haloperidol  (ISO)
hydrogen peroxide  (EXP)
indigo carmine  (ISO)
isocyanuric acid  (ISO)
kainic acid  (ISO)
ketamine  (ISO)
L-ascorbic acid  (EXP)
lanthanum trichloride  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
leflunomide  (EXP)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipoteichoic acid  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
memantine  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (ISO)
midazolam  (ISO)
minocycline  (ISO)
morphine  (ISO)
N-methyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
nobiletin  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ochratoxin A  (ISO)
oxybenzone  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paraquat  (ISO)
PCB138  (ISO)
pentobarbital  (ISO)
phencyclidine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(cytidylic acid)  (ISO)
profenofos  (ISO)
propofol  (ISO)
prostaglandin E2  (ISO)
rimonabant  (ISO)
SB 431542  (EXP)
sevoflurane  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sterigmatocystin  (ISO)
sulfur dioxide  (ISO)
Sunset Yellow FCF  (ISO)
suvorexant  (ISO)
T-2 toxin  (ISO)
tadalafil  (ISO)
tannic acid  (ISO)
tartrazine  (ISO)
tetrodotoxin  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
action potential  (ISO)
auditory behavior  (ISO)
brain development  (NAS)
calcium ion transmembrane import into cytosol  (IDA,IMP)
calcium ion transmembrane transport  (IDA,IEA)
calcium ion transport  (IEA,ISO)
calcium-mediated signaling  (IEA)
cellular response to amino acid stimulus  (ISO)
cellular response to amyloid-beta  (IGI)
cellular response to dsRNA  (ISO)
cellular response to glycine  (ISO)
cellular response to growth factor stimulus  (ISO)
cellular response to lipid  (ISO)
cellular response to magnesium ion  (ISO)
cellular response to manganese ion  (ISO)
cellular response to zinc ion  (ISO)
cerebral cortex development  (ISO)
chemical synaptic transmission  (IEA,ISO,TAS)
conditioned place preference  (ISO)
dendritic spine organization  (ISO)
detection of mechanical stimulus involved in sensory perception of pain  (ISO)
directional locomotion  (IEA,ISO)
dopamine metabolic process  (IEA,ISO)
excitatory chemical synaptic transmission  (NAS)
excitatory postsynaptic potential  (IBA,IEA,ISO)
glutamate receptor signaling pathway  (IEA,TAS)
hippocampus development  (ISO)
ionotropic glutamate receptor signaling pathway  (IEA,ISO,ISS)
learning  (IEA,ISO)
learning or memory  (IEA,ISO,TAS)
locomotion  (IEA,ISO)
long-term synaptic potentiation  (IBA,IEA,ISO)
memory  (IEA,ISO)
modulation of chemical synaptic transmission  (IEA)
modulation of excitatory postsynaptic potential  (ISO)
monoatomic cation transmembrane transport  (IDA,IEA,ISO,ISS)
monoatomic ion transmembrane transport  (IEA)
monoatomic ion transport  (IEA)
multicellular organismal response to stress  (ISO)
negative regulation of protein catabolic process  (IEA,ISO)
neurogenesis  (IEA,ISO)
neuron development  (ISO)
neurotransmitter receptor transport, plasma membrane to endosome  (ISO)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of excitatory postsynaptic potential  (ISO,ISS)
positive regulation of inhibitory postsynaptic potential  (ISO)
positive regulation of protein targeting to membrane  (ISO)
positive regulation of synaptic transmission, glutamatergic  (ISO,ISS)
protein catabolic process  (IEA,ISO)
protein localization to postsynaptic membrane  (IEA,ISO)
receptor recycling  (ISO)
regulation of ARF protein signal transduction  (ISO)
regulation of long-term neuronal synaptic plasticity  (ISO)
regulation of membrane potential  (IEA,ISO)
regulation of monoatomic cation transmembrane transport  (ISO,ISS)
regulation of neuronal synaptic plasticity  (NAS)
regulation of NMDA receptor activity  (ISO)
regulation of postsynaptic membrane potential  (IEA,ISO)
regulation of response to alcohol  (ISO)
regulation of synaptic plasticity  (IEA,ISS,NAS)
response to amine  (ISO)
response to ammonium ion  (ISO)
response to amphetamine  (IEA,ISO)
response to calcium ion  (ISO)
response to carbohydrate  (ISO)
response to cocaine  (ISO)
response to environmental enrichment  (ISO)
response to ethanol  (IDA,IEA,ISO)
response to fungicide  (ISO)
response to glycoside  (ISO)
response to hydrogen sulfide  (ISO)
response to lead ion  (ISO)
response to light stimulus  (ISO)
response to lithium ion  (ISO)
response to manganese ion  (ISO)
response to methylmercury  (ISO)
response to nicotine  (ISO)
response to other organism  (ISO)
response to wounding  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
rhythmic process  (ISO)
sensory perception of pain  (IEA,ISO)
serotonin metabolic process  (IEA,ISO)
sleep  (IEA,ISO)
sodium ion transmembrane transport  (IDA)
spinal cord development  (ISO)
startle response  (IEA,ISO)
synaptic transmission, glutamatergic  (IBA)
visual learning  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
alfentanil pharmacodynamics pathway   (EXP)
Alzheimer's disease pathway  (IEA)
amyotrophic lateral sclerosis pathway  (IEA)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway   (EXP)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
excitatory synaptic transmission pathway  (ISO)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term depression  (ISO)
long term potentiation  (IEA,ISO)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
methadone pharmacokinetics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway   (EXP)
Reelin signaling pathway  (EXP,ISO)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
systemic lupus erythematosus pathway  (IEA)
tramadol pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal involuntary eye movements  (IAGP)
Abnormal myelination  (IAGP)
Abnormal prosody  (IAGP)
Abnormally low-pitched voice  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Aphasia  (IAGP)
Atonic seizure  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical absence seizure  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bilateral tonic-clonic seizure with focal onset  (IAGP)
Bilateral tonic-clonic seizure with generalized onset  (IAGP)
Bipolar affective disorder  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Continuous spike and waves during slow sleep  (IAGP)
Delayed speech and language development  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Difficulty standing  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Drooling  (IAGP)
Dysarthria  (IAGP)
Dysesthesia  (IAGP)
Dystonia  (IAGP)
EEG with centrotemporal focal spike waves  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with frontal focal spike waves  (IAGP)
EEG with frontal focal spikes  (IAGP)
EEG with generalized epileptiform discharges  (IAGP)
EEG with generalized polyspikes  (IAGP)
EEG with irregular generalized spike and wave complexes  (IAGP)
EEG with multifocal slow activity  (IAGP)
EEG with temporal focal spikes  (IAGP)
Emotional lability  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Focal aware seizure  (IAGP)
Focal clonic seizure  (IAGP)
Focal hemiclonic seizure  (IAGP)
Focal hemifacial clonic seizure  (IAGP)
Focal impaired awareness seizure  (IAGP)
Focal motor seizure  (IAGP)
Focal myoclonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Frequent falls  (IAGP)
Gait ataxia  (IAGP)
Generalized clonic seizure  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Generalized tonic seizure  (IAGP)
Global developmental delay  (IAGP)
Hyperactivity  (IAGP)
Hyperkinetic movements  (IAGP)
Hypernasal speech  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impulsivity  (IAGP)
Incomprehensible speech  (IAGP)
Infantile axial hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, borderline  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Interictal EEG abnormality  (IAGP)
Interictal epileptiform activity  (IAGP)
Language impairment  (IAGP)
Laryngospasm  (IAGP)
Loss of speech  (IAGP)
Memory impairment  (IAGP)
Microcephaly  (IAGP)
Migraine  (IAGP)
Motor deterioration  (IAGP)
Mutism  (IAGP)
Myoclonic absence seizure  (IAGP)
Myoclonus  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nocturnal seizures  (IAGP)
Non-convulsive status epilepticus without coma  (IAGP)
Paresthesia  (IAGP)
Pes cavus  (IAGP)
Poor head control  (IAGP)
Primary microcephaly  (IAGP)
Profound global developmental delay  (IAGP)
Psychotic mentation  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Slurred speech  (IAGP)
Small for gestational age  (IAGP)
Social and occupational deterioration  (IAGP)
Specific learning disability  (IAGP)
Speech apraxia  (IAGP)
Speech articulation difficulties  (IAGP)
Spoken word recognition deficit  (IAGP)
Steppage gait  (IAGP)
Stereotypical hand wringing  (IAGP)
Typical absence seizure  (IAGP)
Typified by incomplete penetrance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Potential involvement of GRIN2B encoding the NMDA receptor subunit NR2B in the spectrum of Alzheimer's disease. Andreoli V, etal., J Neural Transm (Vienna). 2014 May;121(5):533-42. doi: 10.1007/s00702-013-1125-7. Epub 2013 Dec 1.
2. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease in a sex-specific manner. Arning L, etal., Hum Genet. 2007 Sep;122(2):175-82. Epub 2007 Jun 14.
3. NR2A and NR2B receptor gene variations modify age at onset in Huntington disease. Arning L, etal., Neurogenetics. 2005 Feb;6(1):25-8. Epub 2004 Nov 17.
4. Differential roles of NR2A and NR2B-containing NMDA receptors in LTP and LTD in the CA1 region of two-week old rat hippocampus. Bartlett TE, etal., Neuropharmacology. 2007 Jan;52(1):60-70. Epub 2006 Aug 10.
5. Association between NMDA receptor subunit 2b gene polymorphism and Alzheimer's disease in Chinese Han population in Shanghai. Chen C, etal., Neurosci Bull. 2010 Oct;26(5):395-400. doi: 10.1007/s12264-010-0729-2.
6. CaMKII regulation in information processing and storage. Coultrap SJ and Bayer KU, Trends Neurosci. 2012 Oct;35(10):607-18. doi: 10.1016/j.tins.2012.05.003. Epub 2012 Jun 19.
7. N-methyl-D-aspartate glutamate receptor blockade attenuates lung injury associated with experimental sepsis. da Cunha AA, etal., Chest. 2010 Feb;137(2):297-302. Epub 2009 Oct 16.
8. NMDA receptor subunits change in the prefrontal cortex of pure-opioid and multi-drug abusers: a post-mortem study. Daneshparvar H, etal., Eur Arch Psychiatry Clin Neurosci. 2019 Apr;269(3):309-315. doi: 10.1007/s00406-018-0900-8. Epub 2018 May 16.
9. Association between a polymorphism in the promoter of a glutamate receptor subunit gene (GRIN2A) and alcoholism. Domart MC, etal., Addict Biol. 2012 Jul;17(4):783-5. doi: 10.1111/j.1369-1600.2011.00321.x. Epub 2011 Apr 20.
10. Early modifications in N-methyl-D-aspartate receptor subunit mRNA levels in an oxygen and glucose deprivation model using rat hippocampal brain slices. Dos-Anjos S, etal., Neuroscience. 2009 Dec 15;164(3):1119-26. Epub 2009 Sep 15.
11. Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease. Fan MM, etal., J Neurosci. 2007 Apr 4;27(14):3768-79.
12. Viral-like brain inflammation during development causes increased seizure susceptibility in adult rats. Galic MA, etal., Neurobiol Dis. 2009 Nov;36(2):343-51. Epub 2009 Aug 4.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Effects of salicylate on the inflammatory genes expression and synaptic ultrastructure in the cochlear nucleus of rats. Hu SS, etal., Inflammation. 2014 Apr;37(2):365-73. doi: 10.1007/s10753-013-9748-2.
15. Characterization of genomic alterations in Chinese colorectal cancer patients. Huang W, etal., Jpn J Clin Oncol. 2021 Jan 1;51(1):120-129. doi: 10.1093/jjco/hyaa182.
16. Prenatal development of NMDA receptor composition and function in trigeminal neurons. Ishihama K, etal., Arch Histol Cytol. 2005 Dec;68(4):321-35.
17. Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans. Itokawa M, etal., Neurosci Lett 2003 Jul 10;345(1):53-6.
18. Sigma-1 receptor activation ameliorates anxiety-like behavior through NR2A-CREB-BDNF signaling pathway in a rat model submitted to single-prolonged stress. Ji LL, etal., Mol Med Rep. 2017 Oct;16(4):4987-4993. doi: 10.3892/mmr.2017.7185. Epub 2017 Aug 7.
19. CaMKII-dependent dendrite ramification and spine generation promote spatial training-induced memory improvement in a rat model of sporadic Alzheimer's disease. Jiang X, etal., Neurobiol Aging. 2015 Feb;36(2):867-76. doi: 10.1016/j.neurobiolaging.2014.10.018. Epub 2014 Oct 16.
20. Hyperhomocysteinemia leads to exacerbation of ischemic brain damage: Role of GluN2A NMDA receptors. Jindal A, etal., Neurobiol Dis. 2019 Jul;127:287-302. doi: 10.1016/j.nbd.2019.03.012. Epub 2019 Mar 15.
21. NMDA receptor GluN2A subunit deletion protects against dependence-like ethanol drinking. Jury NJ, etal., Behav Brain Res. 2018 Nov 1;353:124-128. doi: 10.1016/j.bbr.2018.06.029. Epub 2018 Jun 25.
22. The N-methyl-D-aspartate receptor type 2A is frequently methylated in human colorectal carcinoma and suppresses cell growth. Kim MS, etal., Oncogene. 2008 Mar 27;27(14):2045-54. doi: 10.1038/sj.onc.1210842. Epub 2007 Oct 8.
23. Pathological reorganization of NMDA receptors subunits and postsynaptic protein PSD-95 distribution in Alzheimer's disease. Leuba G, etal., Curr Alzheimer Res. 2014 Jan;11(1):86-96.
24. The role of reelin in adult synaptic function and the genetic and epigenetic regulation of the reelin gene. Levenson JM, etal., Biochim Biophys Acta. 2008 Aug;1779(8):422-31. Epub 2008 Jan 12.
25. Role of NMDA receptor subtypes in different forms of NMDA-dependent synaptic plasticity. Li R, etal., BMC Neurosci. 2007 Jul 26;8:55.
26. Lithium reduced N-methyl-D-aspartate receptor subunit 2A tyrosine phosphorylation and its interactions with Src and Fyn mediated by PSD-95 in rat hippocampus following cerebral ischemia. Ma J and Zhang GY, Neurosci Lett. 2003 Sep 18;348(3):185-9. doi: 10.1016/s0304-3940(03)00784-5.
27. Differential alterations of neocortical GluN receptor subunits in patients with mixed subcortical ischemic vascular dementia and Alzheimer's disease. Mohamed NE, etal., J Alzheimers Dis. 2015;44(2):431-7. doi: 10.3233/JAD-141764.
28. Age and meloxicam attenuate the ischemia/reperfusion-induced down-regulation in the NMDA receptor genes. Montori S, etal., Neurochem Int. 2010 Jul;56(8):878-85. Epub 2010 Mar 27.
29. Cortical neurons from intrauterine growth retardation rats exhibit lower response to neurotrophin BDNF. Ninomiya M, etal., Neurosci Lett. 2010 May 31;476(2):104-9. Epub 2010 Apr 14.
30. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
31. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
32. Content of mRNA for NMDA glutamate receptor subunits in the frontal cortex and striatum of rats after morphine withdrawal is related to the degree of abstinence. Peregud DI, etal., Bull Exp Biol Med. 2012 Oct;153(6):835-8. doi: 10.1007/s10517-012-1838-x.
33. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
34. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
35. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
36. Maternal opioid use disorder: Placental transcriptome analysis for neonatal opioid withdrawal syndrome. Radhakrishna U, etal., Genomics. 2021 Nov;113(6):3610-3617. doi: 10.1016/j.ygeno.2021.08.001. Epub 2021 Aug 3.
37. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
38. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
39. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
40. Intrauterine growth restriction due to uteroplacental insufficiency decreased white matter and altered NMDAR subunit composition in juvenile rat hippocampi. Schober ME, etal., Am J Physiol Regul Integr Comp Physiol. 2009 Mar;296(3):R681-92. Epub 2009 Jan 14.
41. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Tang J, etal., Neurosci Lett. 2006 Nov 27;409(1):80-2. Epub 2006 Oct 2.
42. Cdk5 activation induces hippocampal CA1 cell death by directly phosphorylating NMDA receptors. Wang J, etal., Nat Neurosci 2003 Oct;6(10):1039-47. Epub 2003 Sep 21.
43. Hippocampal NMDAR-Wnt-Catenin signaling disrupted with cognitive deficits in adolescent offspring exposed to prenatal hypoxia. Wei B, etal., Brain Res. 2016 Jan 15;1631:157-64. doi: 10.1016/j.brainres.2015.11.041. Epub 2015 Dec 2.
44. Disease-specific alterations in glutamatergic neurotransmission on inhibitory interneurons in the prefrontal cortex in schizophrenia. Woo TU, etal., Brain Res. 2008 Jul 7;1218:267-77. Epub 2008 Apr 16.
45. Cdk5 inhibitor roscovitine alleviates neuropathic pain in the dorsal root ganglia by downregulating N-methyl-D-aspartate receptor subunit 2A. Yang L, etal., Neurol Sci. 2014 Sep;35(9):1365-71. doi: 10.1007/s10072-014-1713-9.
46. Disruption of SHP1/NMDA receptor signaling in spinal cord dorsal horn alleviated inflammatory pain. Yang L, etal., Neuropharmacology. 2018 Jul 15;137:104-113. doi: 10.1016/j.neuropharm.2018.04.029. Epub 2018 Apr 30.
47. The escalation in ethanol consumption following chronic intermittent ethanol exposure is blunted in mice expressing ethanol-resistant GluN1 or GluN2A NMDA receptor subunits. Zamudio PA, etal., Psychopharmacology (Berl). 2021 Jan;238(1):271-279. doi: 10.1007/s00213-020-05680-z. Epub 2020 Oct 14.
48. Analysis of variations in the glutamate receptor, N-methyl D-aspartate 2A (GRIN2A) gene reveals their relative importance as genetic susceptibility factors for heroin addiction. Zhao B, etal., PLoS One. 2013 Aug 5;8(8):e70817. doi: 10.1371/journal.pone.0070817. Print 2013.
49. Functional polymorphisms of the glutamate receptor N-methyl D-aspartate 2A gene are associated with heroin addiction. Zhong HJ, etal., Genet Mol Res. 2014 Oct 27;13(4):8714-21. doi: 10.4238/2014.October.27.12.
50. Expression of GRIN2A in benign and malignant nasopharyngeal diseases and its clinical significance. Zhou XJ, etal., Genet Mol Res. 2015 Dec 17;14(4):17289-95. doi: 10.4238/2015.December.16.29.
Additional References at PubMed
PMID:1350383   PMID:7524031   PMID:7569905   PMID:7695237   PMID:7816096   PMID:8061049   PMID:8139656   PMID:8163463   PMID:8267632   PMID:8563977   PMID:8581564   PMID:8601796  
PMID:8615909   PMID:8665664   PMID:8724036   PMID:8768735   PMID:8804048   PMID:8821747   PMID:8822372   PMID:8845955   PMID:8955056   PMID:9231720   PMID:9278515   PMID:9286858  
PMID:9480759   PMID:9481670   PMID:9647694   PMID:9651389   PMID:9670010   PMID:9721050   PMID:9745929   PMID:9892651   PMID:10195142   PMID:10197777   PMID:10336672   PMID:10373510  
PMID:10448428   PMID:10458595   PMID:10479680   PMID:10480938   PMID:10555109   PMID:10648730   PMID:10748123   PMID:10846184   PMID:10862698   PMID:10884433   PMID:11104776   PMID:11222640  
PMID:11279200   PMID:11478920   PMID:11483648   PMID:11606043   PMID:11675505   PMID:11803122   PMID:11854440   PMID:11937501   PMID:11985816   PMID:12008020   PMID:12068077   PMID:12070168  
PMID:12082569   PMID:12127670   PMID:12147342   PMID:12191494   PMID:12391275   PMID:12414113   PMID:12419528   PMID:12477932   PMID:12531901   PMID:12576483   PMID:12697264   PMID:12724619  
PMID:12775422   PMID:12815021   PMID:12890763   PMID:12893641   PMID:12923170   PMID:12933808   PMID:12956718   PMID:14529713   PMID:14602821   PMID:14622581   PMID:14644469   PMID:14699423  
PMID:14702039   PMID:14732708   PMID:14744259   PMID:14966475   PMID:15003177   PMID:15254094   PMID:15317856   PMID:15681389   PMID:15749123   PMID:15774266   PMID:15830322   PMID:15888440  
PMID:16266783   PMID:16332682   PMID:16476413   PMID:16481105   PMID:16489129   PMID:16637659   PMID:16697675   PMID:16990796   PMID:17018562   PMID:17081983   PMID:17105731   PMID:17255096  
PMID:17360663   PMID:17433503   PMID:17459877   PMID:17519952   PMID:17526495   PMID:17942280   PMID:17997397   PMID:18029348   PMID:18178157   PMID:18233995   PMID:18400955   PMID:18445116  
PMID:18570704   PMID:18606955   PMID:18990687   PMID:18991843   PMID:19020013   PMID:19036954   PMID:19058789   PMID:19086053   PMID:19086921   PMID:19088076   PMID:19156168   PMID:19268276  
PMID:19352218   PMID:19526283   PMID:19811606   PMID:19834457   PMID:19874574   PMID:20041166   PMID:20070378   PMID:20094923   PMID:20148871   PMID:20379614   PMID:20398908   PMID:20448061  
PMID:20468064   PMID:20677014   PMID:20848605   PMID:20869595   PMID:20890276   PMID:21152063   PMID:21371516   PMID:21491143   PMID:21499247   PMID:21653829   PMID:21670103   PMID:21873635  
PMID:21876681   PMID:21883149   PMID:21883175   PMID:21948112   PMID:22000519   PMID:22004137   PMID:22114277   PMID:22142193   PMID:22375001   PMID:22486492   PMID:22552781   PMID:22833210  
PMID:22851457   PMID:22940423   PMID:23183381   PMID:23267846   PMID:23271275   PMID:23400010   PMID:23453885   PMID:23509962   PMID:23604598   PMID:23621516   PMID:23639431   PMID:23665428  
PMID:23693003   PMID:23847085   PMID:23933818   PMID:23933819   PMID:23933820   PMID:24086760   PMID:24125812   PMID:24198379   PMID:24227730   PMID:24372385   PMID:24504326   PMID:24739903  
PMID:24739951   PMID:24915238   PMID:25056061   PMID:25143613   PMID:25194280   PMID:25412286   PMID:25596506   PMID:25640309   PMID:25683482   PMID:25760043   PMID:25788577   PMID:25958346  
PMID:26220384   PMID:26502998   PMID:26584860   PMID:26719327   PMID:26875626   PMID:26919761   PMID:27199241   PMID:27230353   PMID:27288002   PMID:27659111   PMID:27683935   PMID:27839871  
PMID:27876530   PMID:28095420   PMID:28109652   PMID:28126851   PMID:28182669   PMID:28242877   PMID:28262924   PMID:28320167   PMID:28608743   PMID:29056244   PMID:29161964   PMID:29318639  
PMID:29358611   PMID:29644724   PMID:29896722   PMID:29958946   PMID:30214040   PMID:30260902   PMID:30345361   PMID:30544257   PMID:30590034   PMID:30604514   PMID:31149903   PMID:31272478  
PMID:31295463   PMID:31429998   PMID:31807283   PMID:31847698   PMID:32036246   PMID:32102377   PMID:32191258   PMID:32247039   PMID:33025395   PMID:33037073   PMID:33043365   PMID:33237434  
PMID:33370585   PMID:33961781   PMID:33969428   PMID:33976221   PMID:34039076   PMID:34227748   PMID:34321660   PMID:34726335   PMID:34830255   PMID:35228668   PMID:35513389   PMID:36117210  
PMID:36309015   PMID:36516565   PMID:37000222   PMID:37107537   PMID:37142655   PMID:37736757   PMID:38214768   PMID:38307912   PMID:38319733   PMID:38538865   PMID:38731978   PMID:38836461  


Genomics

Comparative Map Data
GRIN2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38169,753,404 - 10,182,908 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl169,753,404 - 10,183,337 (-)EnsemblGRCh38hg38GRCh38
GRCh37169,847,261 - 10,276,765 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36169,762,923 - 10,184,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 34169,762,922 - 10,184,112NCBI
Celera1610,014,039 - 10,444,548 (-)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef169,767,577 - 9,952,307 (-)NCBIHuRef
HuRef1610,193,124 - 10,195,907 (-)NCBIHuRef
CHM1_1169,847,229 - 10,277,115 (-)NCBICHM1_1
T2T-CHM13v2.0169,786,917 - 10,217,640 (-)NCBIT2T-CHM13v2.0
Grin2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39169,385,765 - 9,813,744 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl169,385,762 - 9,813,424 (-)EnsemblGRCm39 Ensembl
GRCm38169,567,901 - 9,996,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl169,567,898 - 9,995,560 (-)EnsemblGRCm38mm10GRCm38
MGSCv37169,577,803 - 9,992,626 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36169,491,265 - 9,906,111 (-)NCBIMGSCv36mm8
Celera1610,217,398 - 10,625,063 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map165.28NCBI
Grin2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8106,136,458 - 6,560,003 (+)NCBIGRCr8
mRatBN7.2105,629,683 - 6,053,262 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl105,631,369 - 6,044,637 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1010,321,074 - 10,740,259 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0109,846,997 - 10,269,259 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0105,478,407 - 5,901,217 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0105,707,806 - 6,123,568 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl105,930,298 - 6,119,990 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0104,523,233 - 4,940,912 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4105,588,229 - 6,004,780 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1105,588,940 - 6,006,076 (+)NCBI
Celera104,645,710 - 5,048,399 (+)NCBICelera
Cytogenetic Map10q11NCBI
Grin2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554428,174,232 - 8,562,059 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554428,171,114 - 8,565,187 (+)NCBIChiLan1.0ChiLan1.0
GRIN2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21810,282,307 - 10,710,062 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11614,057,703 - 14,490,979 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0168,682,169 - 9,105,581 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1169,909,406 - 10,339,147 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl169,919,143 - 10,336,167 (-)Ensemblpanpan1.1panPan2
GRIN2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1632,132,070 - 32,678,319 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl632,303,121 - 32,668,960 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha633,514,238 - 34,067,205 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0632,315,346 - 32,865,008 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl632,484,833 - 32,856,871 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1632,128,354 - 32,680,283 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0632,000,797 - 32,549,532 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0632,426,676 - 32,972,580 (+)NCBIUU_Cfam_GSD_1.0
Grin2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344110,432,891 - 110,765,991 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365308,287,574 - 8,608,343 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365308,286,101 - 8,612,183 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRIN2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl332,750,700 - 33,143,499 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1332,749,329 - 33,149,350 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2333,810,701 - 33,913,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRIN2A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.159,233,028 - 9,707,322 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl59,286,775 - 9,462,828 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606820,460,991 - 20,885,559 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grin2a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248247,137,909 - 7,507,910 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248247,128,169 - 7,513,360 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRIN2A
1947 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001134407.3(GRIN2A):c.4230G>A (p.Ser1410=) single nucleotide variant Landau-Kleffner syndrome [RCV000552468] Chr16:9763314 [GRCh38]
Chr16:9857171 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.3108G>A (p.Glu1036=) single nucleotide variant Landau-Kleffner syndrome [RCV000524545] Chr16:9764436 [GRCh38]
Chr16:9858293 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.4305G>C (p.Lys1435Asn) single nucleotide variant not provided [RCV000521620] Chr16:9763239 [GRCh38]
Chr16:9857096 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) single nucleotide variant Landau-Kleffner syndrome [RCV000032866] Chr16:9829485 [GRCh38]
Chr16:9923342 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) single nucleotide variant Landau-Kleffner syndrome [RCV000022584] Chr16:9938314 [GRCh38]
Chr16:10032171 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg) single nucleotide variant Childhood epilepsy with centrotemporal spikes [RCV000656053]|Landau-Kleffner syndrome [RCV001782995] Chr16:10180176 [GRCh38]
Chr16:10274033 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001134407.3(GRIN2A):c.1170G>T (p.Trp390Cys) single nucleotide variant Landau-Kleffner syndrome [RCV000639580]|not provided [RCV003153781] Chr16:9849914 [GRCh38]
Chr16:9943771 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_001134407.3(GRIN2A):c.4126C>T (p.Arg1376Cys) single nucleotide variant Landau-Kleffner syndrome [RCV000639582] Chr16:9763418 [GRCh38]
Chr16:9857275 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_001134407.3(GRIN2A):c.3953G>A (p.Arg1318Gln) single nucleotide variant Landau-Kleffner syndrome [RCV000546826] Chr16:9763591 [GRCh38]
Chr16:9857448 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=) single nucleotide variant GRIN2A-related disorder [RCV003908029]|not provided [RCV000729433] Chr16:9938288 [GRCh38]
Chr16:10032145 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_001134407.3(GRIN2A):c.1498-11C>T single nucleotide variant not specified [RCV000602720] Chr16:9840811 [GRCh38]
Chr16:9934668 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.1652-19T>C single nucleotide variant Landau-Kleffner syndrome [RCV002062942]|not specified [RCV000602944] Chr16:9834249 [GRCh38]
Chr16:9928106 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.2103G>C (p.Met701Ile) single nucleotide variant not provided [RCV000520893] Chr16:9822329 [GRCh38]
Chr16:9916186 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_001134407.3(GRIN2A):c.3753C>T (p.Asp1251=) single nucleotide variant Landau-Kleffner syndrome [RCV001450239] Chr16:9763791 [GRCh38]
Chr16:9857648 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.288C>T (p.His96=) single nucleotide variant Landau-Kleffner syndrome [RCV000525896]|not provided [RCV001722473] Chr16:10180124 [GRCh38]
Chr16:10273981 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.3630C>T (p.Asn1210=) single nucleotide variant Landau-Kleffner syndrome [RCV000553810] Chr16:9763914 [GRCh38]
Chr16:9857771 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.324C>T (p.Ala108=) single nucleotide variant Inborn genetic diseases [RCV002316542]|Landau-Kleffner syndrome [RCV000528323] Chr16:10180088 [GRCh38]
Chr16:10273945 [GRCh37]
Chr16:16p13.2		 likely benign
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) single nucleotide variant Landau-Kleffner syndrome [RCV000022585] Chr16:9829585 [GRCh38]
Chr16:9923442 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) single nucleotide variant Landau-Kleffner syndrome [RCV000074387]|not provided [RCV004721258] Chr16:10180410 [GRCh38]
Chr16:10274267 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met) single nucleotide variant Landau-Kleffner syndrome [RCV000074389]|not provided [RCV001557828] Chr16:9840706 [GRCh38]
Chr16:9934563 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His) single nucleotide variant Landau-Kleffner syndrome [RCV000074391]|not provided [RCV000379543] Chr16:9840745 [GRCh38]
Chr16:9934602 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) single nucleotide variant Landau-Kleffner syndrome [RCV000074392] Chr16:9829476 [GRCh38]
Chr16:9923333 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) single nucleotide variant Landau-Kleffner syndrome [RCV000074393]|not provided [RCV000260469] Chr16:9822391 [GRCh38]
Chr16:9916248 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) single nucleotide variant Inborn genetic diseases [RCV004629145]|Landau-Kleffner syndrome [RCV000032867]|not provided [RCV001091973] Chr16:9834227 [GRCh38]
Chr16:9928084 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_000833.4(GRIN2A):c.3936C>T (p.Ser1312=) single nucleotide variant Malignant melanoma [RCV000071276] Chr16:9763608 [GRCh38]
Chr16:9857465 [GRCh37]
Chr16:9764966 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.3812G>A (p.Trp1271Ter) single nucleotide variant Malignant melanoma [RCV000071277] Chr16:9763732 [GRCh38]
Chr16:9857589 [GRCh37]
Chr16:9765090 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.3457G>A (p.Asp1153Asn) single nucleotide variant Malignant melanoma [RCV000071278] Chr16:9764087 [GRCh38]
Chr16:9857944 [GRCh37]
Chr16:9765445 [NCBI36]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu) single nucleotide variant Landau-Kleffner syndrome [RCV001326955]|not provided [RCV001570463] Chr16:9840766 [GRCh38]
Chr16:9934623 [GRCh37]
Chr16:9842124 [NCBI36]
Chr16:16p13.2		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_000833.4(GRIN2A):c.1248C>T (p.Phe416=) single nucleotide variant Malignant melanoma [RCV000071280] Chr16:9849836 [GRCh38]
Chr16:9943693 [GRCh37]
Chr16:9851194 [NCBI36]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.1081C>T (p.Leu361=) single nucleotide variant Landau-Kleffner syndrome [RCV003047659] Chr16:9891027 [GRCh38]
Chr16:9984884 [GRCh37]
Chr16:9892385 [NCBI36]
Chr16:16p13.2		 likely benign|not provided
NM_000833.4(GRIN2A):c.4276G>A (p.Glu1426Lys) single nucleotide variant Malignant melanoma [RCV000063105] Chr16:9763268 [GRCh38]
Chr16:9857125 [GRCh37]
Chr16:9764626 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.2135G>A (p.Gly712Glu) single nucleotide variant Malignant melanoma [RCV000063106] Chr16:9822297 [GRCh38]
Chr16:9916154 [GRCh37]
Chr16:9823655 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.1491C>T (p.Ile497=) single nucleotide variant Malignant melanoma [RCV000063107] Chr16:9840942 [GRCh38]
Chr16:9934799 [GRCh37]
Chr16:9842300 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.1346G>A (p.Gly449Glu) single nucleotide variant Malignant melanoma [RCV000063108] Chr16:9841087 [GRCh38]
Chr16:9934944 [GRCh37]
Chr16:9842445 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.1111G>A (p.Glu371Lys) single nucleotide variant Malignant melanoma [RCV000063109] Chr16:9890997 [GRCh38]
Chr16:9984854 [GRCh37]
Chr16:9892355 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.1029G>A (p.Trp343Ter) single nucleotide variant Malignant melanoma [RCV000063110] Chr16:9891079 [GRCh38]
Chr16:9984936 [GRCh37]
Chr16:9892437 [NCBI36]
Chr16:16p13.2		 not provided
NM_000833.4(GRIN2A):c.833C>T (p.Ser278Phe) single nucleotide variant Malignant melanoma [RCV000063111] Chr16:9938133 [GRCh38]
Chr16:10031990 [GRCh37]
Chr16:9939491 [NCBI36]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.2554G>T (p.Val852Leu) single nucleotide variant Landau-Kleffner syndrome [RCV000660446] Chr16:9768892 [GRCh38]
Chr16:9862749 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) single nucleotide variant Landau-Kleffner syndrome [RCV001034256]|not provided [RCV000084740]|not specified [RCV003398693] Chr16:9937977 [GRCh38]
Chr16:10031834 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance|not provided
NM_001134407.3(GRIN2A):c.909A>G (p.Ala303=) single nucleotide variant not provided [RCV000084741] Chr16:9938057 [GRCh38]
Chr16:10031914 [GRCh37]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.810A>G (p.Lys270=) single nucleotide variant Landau-Kleffner syndrome [RCV002055253]|not provided [RCV000084742] Chr16:9938156 [GRCh38]
Chr16:10032013 [GRCh37]
Chr16:16p13.2		 benign|not provided
NM_001134407.3(GRIN2A):c.730C>T (p.Arg244Cys) single nucleotide variant not provided [RCV000084743] Chr16:9938236 [GRCh38]
Chr16:10032093 [GRCh37]
Chr16:16p13.2		 uncertain significance|not provided
NM_001134407.3(GRIN2A):c.623C>T (p.Thr208Ile) single nucleotide variant Inborn genetic diseases [RCV002362736]|Landau-Kleffner syndrome [RCV000703188]|not provided [RCV000084744]|not specified [RCV000194289] Chr16:9938343 [GRCh38]
Chr16:10032200 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance|not provided
NM_001134407.3(GRIN2A):c.426T>G (p.Ser142=) single nucleotide variant Landau-Kleffner syndrome [RCV001464335]|not provided [RCV000084745] Chr16:9938540 [GRCh38]
Chr16:10032397 [GRCh37]
Chr16:16p13.2		 likely benign|not provided
NM_001134407.3(GRIN2A):c.420G>A (p.Pro140=) single nucleotide variant Inborn genetic diseases [RCV002316287]|Landau-Kleffner syndrome [RCV001083103]|not provided [RCV000084746]|not specified [RCV000501793] Chr16:9938546 [GRCh38]
Chr16:10032403 [GRCh37]
Chr16:16p13.2		 likely benign|not provided
NM_001134407.3(GRIN2A):c.264C>T (p.Asp88=) single nucleotide variant Landau-Kleffner syndrome [RCV001424254]|not provided [RCV000084747] Chr16:10180148 [GRCh38]
Chr16:10274005 [GRCh37]
Chr16:16p13.2		 likely benign|not provided
NM_001134407.3(GRIN2A):c.205G>A (p.Val69Met) single nucleotide variant not provided [RCV000084748] Chr16:10180207 [GRCh38]
Chr16:10274064 [GRCh37]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.80C>T (p.Ala27Val) single nucleotide variant not provided [RCV000084749]|not specified [RCV003993801] Chr16:10180332 [GRCh38]
Chr16:10274189 [GRCh37]
Chr16:16p13.2		 uncertain significance|not provided
NM_001134407.3(GRIN2A):c.60T>C (p.Gly20=) single nucleotide variant Landau-Kleffner syndrome [RCV001079738]|not provided [RCV000084750] Chr16:10180352 [GRCh38]
Chr16:10274209 [GRCh37]
Chr16:16p13.2		 likely benign|not provided
NM_001134407.3(GRIN2A):c.38C>T (p.Pro13Leu) single nucleotide variant Landau-Kleffner syndrome [RCV000697889]|not provided [RCV000084751] Chr16:10180374 [GRCh38]
Chr16:10274231 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance|not provided
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) single nucleotide variant Landau-Kleffner syndrome [RCV000474726]|not provided [RCV000084752] Chr16:9763690 [GRCh38]
Chr16:9857547 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001134407.3(GRIN2A):c.3700T>G (p.Phe1234Val) single nucleotide variant not provided [RCV000084753] Chr16:9763844 [GRCh38]
Chr16:9857701 [GRCh37]
Chr16:16p13.2		 not provided
NM_001134407.3(GRIN2A):c.3647G>C (p.Ser1216Thr) single nuc