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GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A [ Homo sapiens (human) ]

Gene ID: 2903, updated on 13-Jul-2014
Official Symbol
GRIN2Aprovided by HGNC
Official Full Name
glutamate receptor, ionotropic, N-methyl D-aspartate 2Aprovided by HGNC
Primary source
HGNC:4585
Locus tag
RP11-297M9.2
See related
Ensembl:ENSG00000183454; HPRD:00698; MIM:138253; Vega:OTTHUMG00000129721
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LKS; EPND; FESD; NR2A; GluN2A; NMDAR2A
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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
See GRIN2A in Epigenomics, MapViewer
Location:
16p13.2
Exon count :
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (9753408..10182754, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (9847265..10276611, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927026 Neighboring gene RNA, 5S ribosomal pseudogene 404 Neighboring gene IMP (inosine monophosphate) dehydrogenase 1 pseudogene 11 Neighboring gene activating transcription factor 7 interacting protein 2 Neighboring gene epithelial membrane protein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Focal epilepsy with speech disorder with or without mental retardation
MedGen: C1832814 OMIM: 245570 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-06-19)

ISCA Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated (2013-06-19)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study with DNA pooling identifies the variant rs11866328 in the GRIN2A gene that affects disease progression of chronic HBV infection.
NHGRI GWA Catalog
Common genetic variation and the control of HIV-1 in humans.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-induced dephosphorylation of KV2.1 is dependent on NMDA receptor-mediated activation of protein phosphatase 2B or calcineurin PubMed
env HIV-1 gp120 activates forward trafficking and surface clustering of NMDA receptors in membrane microdomains by a PKA-dependent phosphorylation of the NR1 C-terminal Ser897, followed by a PKC-dependent phosphorylation of Ser896 PubMed
env HIV-1 gp120-induced synapse loss requires sequential activation of CXCR4, IL-1beta receptor, and NMDA receptor PubMed
env HIV-1 gp120 activates NMDA receptor directly and phosphorylates JNK through a gp120-mediated apoptotic pathway in human neuroblastoma cells PubMed
env HIV-1 clade B gp120 significantly downregulates NMDA receptor gene and protein expression and levels of glutamine compared to clade C gp120 PubMed
env HIV-1 gp120-mediated human cell death involves the NMDA receptor complex; antagonists of the NMDA receptor reverse the gp120-mediated effects PubMed
env HIV-1 gp120 causes an activation of phospholipase A2, resulting in the increased release of arachidonic acid, which may sensitize the NMDA receptor PubMed
env HIV-1 gp120 binds to cells expressing epsilon1/zeta1 or epsilon2/zeta1 combined NMDA receptor subunits, but not to cells expressing a single epsilon1, epsilon2, or zeta1 NMDA receptor subunit PubMed
Tat, p14 tat HIV-1 Tat-induced activation of spermine oxidase (SMO) activity involves NMDAR stimulation in human neuroblastoma PubMed
tat HIV-1 Tat and methamphetamine inhibit the normal conjunction of signaling between D1 and NMDA receptors, resulting in neural dysfunction and death PubMed
tat HIV-1 Tat interacts with NMDA receptors in primary neuronal-glial cultures and in hippocampal slice cultures PubMed
tat HIV-1 Tat treatment induces the formation of complexes involving the low-density lipoprotein receptor-related protein (LRP), postsynaptic density protein-95 (PSD-95), and N-methyl-d-aspartic acid (NMDA) receptors at the neuron surface PubMed
tat Tat treatment causes activation of neuronal nitric oxide synthase (nNOS) through association with NMDA receptors PubMed
tat HIV-1 Tat treatment of human neurons results in tyrosine (Y) phosphorylation at position 1325 of the NMDAR subunit 2A (NR2A) in a src kinase-dependent manner PubMed
tat HIV-1 Tat treatment of primary differentiated human neurons induces extensive apoptosis through increased amounts of NMDAR2A expression, but only low levels of apoptosis in primary immature human neurons result from low or minimal expression of NMDAR2A PubMed
tat HIV-1 Tat-induced NMDA receptor activation is clade dependent. The Cys 30-Cys 31 motif in Tat is critical for the NMDA receptor activation PubMed
tat Ca(2+) influx through the NMDA receptor is necessary for HIV-1 Tat-induced synapse loss PubMed
tat HIV-1 Tat induces apoptosis of neurons and neurotoxicity through the activation of both NMDA and non-NMDA receptors PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystem (from REACTOME)
    Activation of NMDA receptor upon glutamate binding and postsynaptic events, organism-specific biosystemNMDA receptors are a subtype of ionotropic glutamate receptors that are specifically activated by a glutamate agonist N-methyl-D-aspartate (NMDA). Activation of NMDA receptor involves opening of the ...
  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • Amphetamine addiction, organism-specific biosystem (from KEGG)
    Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Amphetamine addiction, conserved biosystem (from KEGG)
    Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
    Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
  • CREB phosphorylation through the activation of CaMKII, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of CaMKII, organism-specific biosystemCa2+ signal generated through NMDA receptor in the post-synaptic neuron activates adenylate cyclase signal transduction, leading to the activation of PKA and phosphorylation and activation of CREB-in...
  • CREB phosphorylation through the activation of Ras, organism-specific biosystem (from REACTOME)
    CREB phosphorylation through the activation of Ras, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Circadian entrainment, organism-specific biosystem (from KEGG)
    Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Circadian entrainment, conserved biosystem (from KEGG)
    Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
  • Cocaine addiction, organism-specific biosystem (from KEGG)
    Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Cocaine addiction, conserved biosystem (from KEGG)
    Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Dopaminergic synapse, organism-specific biosystem (from KEGG)
    Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Dopaminergic synapse, conserved biosystem (from KEGG)
    Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Glutamatergic synapse, organism-specific biosystem (from KEGG)
    Glutamatergic synapse, organism-specific biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Glutamatergic synapse, conserved biosystem (from KEGG)
    Glutamatergic synapse, conserved biosystemGlutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synap...
  • Hypothetical Network for Drug Addiction, organism-specific biosystem (from WikiPathways)
    Hypothetical Network for Drug Addiction, organism-specific biosystemAdapted from figure 2 in [http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.0040002 Li et al.].
  • Long-term potentiation, organism-specific biosystem (from KEGG)
    Long-term potentiation, organism-specific biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
  • Long-term potentiation, conserved biosystem (from KEGG)
    Long-term potentiation, conserved biosystemHippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippo...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Post NMDA receptor activation events, organism-specific biosystem (from REACTOME)
    Post NMDA receptor activation events, organism-specific biosystemCa2+ influx through the NMDA receptor initiates subsequent molecular pathways that have a defined role in establishing long-lasting synaptic changes. The molecular signaling initiated by a rise in Ca...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystem (from REACTOME)
    Ras activation uopn Ca2+ infux through NMDA receptor, organism-specific biosystemCa2+ influx through the NMDA receptor leads to the activation of Ras kinase via the activation of RasGRF.
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Reelin signaling pathway, organism-specific biosystem
    Reelin signaling pathway
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystem (from REACTOME)
    Unblocking of NMDA receptor, glutamate binding and activation, organism-specific biosystemAt resting membrane potential the NMDA receptor is blocked by extracellular Mg2+ ions and therefore is not activated in this state by ligands (glutamate, glycine, NMDA). The voltage block is removed ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-methyl-D-aspartate selective glutamate receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
extracellular-glutamate-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
directional locomotion IEA
Inferred from Electronic Annotation
more info
 
dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
glutamate receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
ionotropic glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
learning or memory TAS
Traceable Author Statement
more info
PubMed 
memory IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
neurogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
protein localization IEA
Inferred from Electronic Annotation
more info
 
regulation of excitatory postsynaptic membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
response to amphetamine IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IDA
Inferred from Direct Assay
more info
PubMed 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
serotonin metabolic process IEA
Inferred from Electronic Annotation
more info
 
sleep IEA
Inferred from Electronic Annotation
more info
 
startle response IEA
Inferred from Electronic Annotation
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
N-methyl-D-aspartate selective glutamate receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
neuronal postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glutamate receptor ionotropic, NMDA 2A
Names
glutamate receptor ionotropic, NMDA 2A
N-methyl D-aspartate receptor subtype 2A
N-methyl-D-aspartate receptor subunit 2A
N-methyl-D-aspartate receptor channel, subunit epsilon-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011812.1 

    Range
    5001..434351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000833.4NP_000824.1  glutamate receptor ionotropic, NMDA 2A isoform 1 precursor

    See proteins identical to NP_000824.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Transcript variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC006531, AC007218, U09002, U90277
    Consensus CDS
    CCDS10539.1
    UniProtKB/Swiss-Prot
    Q12879
    UniProtKB/TrEMBL
    Q547U9
    Conserved Domains (5) summary
    cd06378
    Location:32392
    Blast Score: 1687
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    COG0834
    Location:458541
    Blast Score: 114
    HisJ; ABC-type amino acid transport/signal transduction systems, periplasmic component/domain [Amino acid transport and metabolism / Signal transduction mechanisms]
    cd00134
    Location:458545
    Blast Score: 127
    PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...
    pfam00060
    Location:556828
    Blast Score: 715
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:8391464
    Blast Score: 2344
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  2. NM_001134407.2NP_001127879.1  glutamate receptor ionotropic, NMDA 2A isoform 1 precursor

    See proteins identical to NP_001127879.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB209695, AC006531, AC007218, U09002
    Consensus CDS
    CCDS10539.1
    UniProtKB/Swiss-Prot
    Q12879
    UniProtKB/TrEMBL
    Q547U9
    Conserved Domains (5) summary
    cd06378
    Location:32392
    Blast Score: 1687
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    COG0834
    Location:458541
    Blast Score: 114
    HisJ; ABC-type amino acid transport/signal transduction systems, periplasmic component/domain [Amino acid transport and metabolism / Signal transduction mechanisms]
    cd00134
    Location:458545
    Blast Score: 127
    PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...
    pfam00060
    Location:556828
    Blast Score: 715
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:8391464
    Blast Score: 2344
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  3. NM_001134408.2NP_001127880.1  glutamate receptor ionotropic, NMDA 2A isoform 2 precursor

    See proteins identical to NP_001127880.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and is alternatively spliced at the 3' end, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007218, BC143273, U90277
    Consensus CDS
    CCDS45407.1
    UniProtKB/Swiss-Prot
    Q12879
    Related
    ENSP00000385872, ENST00000404927
    Conserved Domains (5) summary
    cd06378
    Location:32392
    Blast Score: 1687
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    COG0834
    Location:458541
    Blast Score: 114
    HisJ; ABC-type amino acid transport/signal transduction systems, periplasmic component/domain [Amino acid transport and metabolism / Signal transduction mechanisms]
    cd00134
    Location:458545
    Blast Score: 127
    PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...
    pfam00060
    Location:556828
    Blast Score: 710
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:8391258
    Blast Score: 1623
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    9753408..10182754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005255268.1XP_005255325.1  

    Conserved Domains (5) summary
    cd06378
    Location:84444
    Blast Score: 1685
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    COG0834
    Location:510593
    Blast Score: 114
    HisJ; ABC-type amino acid transport/signal transduction systems, periplasmic component/domain [Amino acid transport and metabolism / Signal transduction mechanisms]
    cd00134
    Location:510597
    Blast Score: 127
    PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...
    pfam00060
    Location:608880
    Blast Score: 709
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:8911310
    Blast Score: 1623
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus
  2. XM_005255267.1XP_005255324.1  

    Conserved Domains (5) summary
    cd06378
    Location:84444
    Blast Score: 1687
    PBP1_iGluR_NMDA_NR2; N-terminal leucine/isoleucine/valine-binding protein (LIVBP)-like domain of the NR2 subunit of NMDA receptor family
    COG0834
    Location:510593
    Blast Score: 114
    HisJ; ABC-type amino acid transport/signal transduction systems, periplasmic component/domain [Amino acid transport and metabolism / Signal transduction mechanisms]
    cd00134
    Location:510597
    Blast Score: 127
    PBPb; Bacterial periplasmic transport systems use membrane-bound complexes and substrate-bound, membrane-associated, periplasmic binding proteins (PBPs) to transport a wide variety of substrates, such as, amino acids, peptides, sugars, vitamins and inorganic ...
    pfam00060
    Location:608880
    Blast Score: 714
    Lig_chan; Ligand-gated ion channel
    pfam10565
    Location:8911516
    Blast Score: 2348
    NMDAR2_C; N-methyl D-aspartate receptor 2B3 C-terminus

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    9767577..9952307
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. AC_000148.1 

    Range
    10193124..10195907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    9847229..10277115
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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