| DOT Name |
Glutamate receptor ionotropic, NMDA 2D (GRIN2D)
|
| Synonyms |
GluN2D; EB11; Glutamate receptor subunit epsilon-4; N-methyl D-aspartate receptor subtype 2D; NMDAR2D; NR2D |
| Gene Name |
GRIN2D
|
| Related Disease |
- Complex neurodevelopmental disorder ( )
- Developmental and epileptic encephalopathy, 46 ( )
- Undetermined early-onset epileptic encephalopathy ( )
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| UniProt ID |
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| 3D Structure |
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| PDB ID |
7YFF ; 7YFL ; 7YFM ; 7YFO ; 7YFR ; 8E96 |
| Pfam ID |
PF01094
; PF00060
; PF10613
; PF00497
|
| Sequence |
MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGP
AYAAEAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDD
SRAPAVAPILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLE
EYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVS
AQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPL
PAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESL
HRYFMNITWDNRDYSFNEDGFLVNPSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYG
RFLQPVDDTQHLTVATLEERPFVIVEPADPISGTCIRDSVPCRSQLNRTHSPPPDAPRPE
KRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKIDGVWNGMIGEVFYQRADMAIGSL
TINEERSEIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVT
VFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPVENPRGTTSKIMVL
VWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEK
NIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGS
GKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDKIEVMSSKL
DIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAE
AAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADG
FHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPP
AGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAG
GTGGAGGGAPAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYP
YAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHD
GLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGW
DLPPPAPTSRSLEDLSSCPRAAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDL
GTRRGSAHFSSLESEV
|
| Function |
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+). Sensitivity to glutamate and channel kinetics depend on the subunit composition.
|
| KEGG Pathway |
- Calcium sig.ling pathway (hsa04020 )
- cAMP sig.ling pathway (hsa04024 )
- Neuroactive ligand-receptor interaction (hsa04080 )
- Circadian entrainment (hsa04713 )
- Long-term potentiation (hsa04720 )
- Glutamatergic sy.pse (hsa04724 )
- Alzheimer disease (hsa05010 )
- Amyotrophic lateral sclerosis (hsa05014 )
- Spinocerebellar ataxia (hsa05017 )
- Prion disease (hsa05020 )
- Pathways of neurodegeneration - multiple diseases (hsa05022 )
- Cocaine addiction (hsa05030 )
- Amphetamine addiction (hsa05031 )
- Nicotine addiction (hsa05033 )
- Alcoholism (hsa05034 )
|
| Reactome Pathway |
- Ras activation upon Ca2+ influx through NMDA receptor (R-HSA-442982 )
- RAF/MAP kinase cascade (R-HSA-5673001 )
- Neurexins and neuroligins (R-HSA-6794361 )
- Synaptic adhesion-like molecules (R-HSA-8849932 )
- Assembly and cell surface presentation of NMDA receptors (R-HSA-9609736 )
- Negative regulation of NMDA receptor-mediated neuronal transmission (R-HSA-9617324 )
- Long-term potentiation (R-HSA-9620244 )
- Unblocking of NMDA receptors, glutamate binding and activation (R-HSA-438066 )
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