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Results for the Protein: Q13224
14548162

NMDE2_HUMAN RecName: Full=Glutamate receptor ionotropic, NMDA 2B; Short=GluN2B; AltName: Full=Glutamate [NMDA] receptor subunit epsilon-2; AltName: Full=N-methyl D-aspartate receptor subtype 2B; Short=NMDAR2B; Short=NR2B; AltName: Full=N-methyl-D-aspartate receptor subunit 3; Short=NR3; Short=hNR3; Flags: Precursor

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 (MRD6)
6
1
4
0
3
Tips:
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Default View:

PBP1_GPCR_family_C_l - cd06350
PBP1_glutamate_recep - cd06269
PBP1_iGluR_NMDA_NR1 - cd06379
PBP1_iGluR_NMDA_NR3 - cd06377
PBP1_iGluR_NMDA_NR2 - cd06378
PBP1_iGluR_NMDA - cd06367
PBP1_ABC_transporter - cd04509
Periplasmic_Binding_ - cd01391
PBP1_GABAb_receptor - cd06366
PBP1_iGluR_N_LIVBP_l - cd06351
Lig_chan-Glu_bd - pfam10613
SBP_bac_3 - pfam00497
Lig_chan - pfam00060
PBPe - smart00079
NMDAR2_C - pfam10565


Swiss-Prot Protein: Q13224
Identical to: NP_000825
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PBP1_glutamate_recepcd062697.8e-3514387
PBP1_GPCR_family_C_lcd063500.000214388
PBP1_iGluR_NMDA_NR1cd063799.7e-0815393
PBP1_iGluR_NMDA_NR3cd063770.000121392
PBP1_iGluR_NMDAcd063675.2e-18133392
PBP1_iGluR_NMDA_NR2cd063781.2e-21733393
Periplasmic_Binding_cd013912.8e-0634362
PBP1_ABC_transportercd045098.5e-2634363
PBP1_iGluR_N_LIVBP_lcd063513.3e-8236388
PBP1_GABAb_receptorcd063660.0008436386
SBP_bac_3pfam004976.8e-15438799
Lig_chanpfam000609.1e-101555829
Lig_chan-Glu_bdpfam106135.9e-26434503
PBPesmart000799.8e-28662799
NMDAR2_Cpfam105658401484

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065900Diseasep.ARG682CYSMental retardation, autosomal dominant 6 (MRD6)
Swiss-ProtVAR_069384Diseasep.PRO553LEUMental retardation, autosomal dominant 6 (MRD6)
Swiss-ProtVAR_011317Polymorphismp.SER407ASNN/A
OMIM138252.0003 Diseasep.ARG682CYSMENTAL RETARDATION, AUTOSOMAL DOMINANT 6
OMIM138252.0006 Diseasep.CYS456TYRMENTAL RETARDATION, AUTOSOMAL DOMINANT 6
OMIM138252.0009 Diseasep.PRO553LEUMENTAL RETARDATION, AUTOSOMAL DOMINANT 6
OMIM138252.0008 Diseasep.TRP559TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 6



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