Homo sapiens Protein: GRIK2 | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-94713.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | GRIK2 | ||||||||||||||||||||||
Protein Name | glutamate receptor, ionotropic, kainate 2 | ||||||||||||||||||||||
Synonyms | EAA4; GLR6; GluK2; GLUK6; GLUR6; MRT6; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000313276 | ||||||||||||||||||||||
InnateDB Gene | IDBG-94705 (GRIK2) | ||||||||||||||||||||||
Protein Structure |
![]() |
||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
Function | Ionotropic glutamate receptor. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. Binding of the excitatory neurotransmitter L- glutamate induces a conformation change, leading to the opening of the cation channel, and thereby converts the chemical signal to an electrical impulse. The receptor then desensitizes rapidly and enters a transient inactive state, characterized by the presence of bound agonist. May be involved in the transmission of light information from the retina to the hypothalamus. Modulates cell surface expression of NETO2 (By similarity). {ECO:0000250}. | ||||||||||||||||||||||
Subcellular Localization | Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. | ||||||||||||||||||||||
Disease Associations | Mental retardation, autosomal recessive 6 (MRT6) [MIM:611092]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. In contrast to syndromic or specific mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non-syndromic mental retardation. MRT6 patients display mild to severe mental retardation and psychomotor development delay in early childhood. Patients do not have neurologic problems, congenital malformations, or facial dysmorphism. Body height, weight, and head circumference are normal. {ECO:0000269PubMed:17847003}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Expression is higher in cerebellum than in cerebral cortex. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
|
||||||||||||||||||||||
Gene Ontology | |||||||||||||||||||||||
Molecular Function |
|
||||||||||||||||||||||
Biological Process |
|
||||||||||||||||||||||
Cellular Component |
|
||||||||||||||||||||||
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 IPR019594 Glutamate receptor, L-glutamate/glycine-binding IPR028082 Periplasmic binding protein-like I |
||||||||||||||||||||||
PFAM |
PF00060
PF00497 PF01094 PF10613 |
||||||||||||||||||||||
PRINTS |
PR00177
|
||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00079
SM00062 SM00918 |
||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13002 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13002 | ||||||||||||||||||||||
TrEMBL | H7C2P5 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 2898 | ||||||||||||||||||||||
UniGene | Hs.98262 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:4580 | ||||||||||||||||||||||
OMIM | 138244 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 00692 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AJ252246 AJ301608 AJ301609 AJ301610 AL109919 AP002528 AP002529 AP002530 CH471051 HM149335 HM149336 HM149337 HM149338 HM149339 U16126 | ||||||||||||||||||||||
GenPept | AAC50420 ADH93569 ADH93570 ADH93571 ADH93572 ADH93573 CAC67485 CAC67486 CAC67487 CAC81020 EAW48448 | ||||||||||||||||||||||