InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GRIN2A

Summary

InnateDB Protein

IDBP-14129.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GRIN2A

Protein Name

glutamate receptor, ionotropic, N-methyl D-aspartate 2A

Synonyms

EPND; FESD; GluN2A; LKS; NMDAR2A; NR2A;

Species

Homo sapiens

Ensembl Protein

ENSP00000332549

InnateDB Gene

IDBG-14127 (GRIN2A)

Protein Structure

UniProt Annotation

Function

NMDA receptor subtype of glutamate-gated ion channels possesses high calcium permeability and voltage-dependent sensitivity to magnesium. Activation requires binding of agonist to both types of subunits.

Subcellular Localization

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.

Disease Associations

Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570]: A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes. {ECO:0000269PubMed:20890276, ECO:0000269PubMed:23033978, ECO:0000269PubMed:23933818, ECO:0000269PubMed:23933819, ECO:0000269PubMed:23933820}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving GRIN2A has been found in a family with epilepsy and neurodevelopmental defects. Translocation t(16;17)(p13.2;q11.2).Note=GRIN2A somatic mutations have been frequently found in cutaneous malignant melanoma, suggesting that the glutamate signaling pathway may play a role in the pathogenesis of melanoma. {ECO:0000269PubMed:21499247}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Experimentally validated
Total	28 [view]
Protein-Protein	28 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004970	ionotropic glutamate receptor activity
GO:0004972	N-methyl-D-aspartate selective glutamate receptor activity
GO:0005215	transporter activity
GO:0005234	extracellular-glutamate-gated ion channel activity
GO:0005515	protein binding
GO:0008270	zinc ion binding

Biological Process

GO:0006810	transport
GO:0007215	glutamate receptor signaling pathway
GO:0007268	synaptic transmission
GO:0007611	learning or memory
GO:0034220	ion transmembrane transport
GO:0035235	ionotropic glutamate receptor signaling pathway
GO:0035249	synaptic transmission, glutamatergic
GO:0045471	response to ethanol

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0009986	cell surface
GO:0016020	membrane
GO:0017146	N-methyl-D-aspartate selective glutamate receptor complex
GO:0030054	cell junction
GO:0030425	dendrite
GO:0045211	postsynaptic membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001320 Ionotropic glutamate receptor
IPR001508 NMDA receptor
IPR001638 Extracellular solute-binding protein, family 3
IPR001828 Extracellular ligand-binding receptor
IPR018884 Glutamate [NMDA] receptor, epsilon subunit, C-terminal
IPR019594 Glutamate receptor, L-glutamate/glycine-binding
IPR028082 Periplasmic binding protein-like I

PFAM

PF00060
PF00497
PF01094
PF10565
PF10613

PRINTS

PR00177

PIRSF

SMART

SM00079
SM00062
SM00918

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt