ENSG00000105464


Homo sapiens

Features
Gene ID: ENSG00000105464
  
Biological name :GRIN2D
  
Synonyms : glutamate ionotropic receptor NMDA type subunit 2D / GRIN2D / O15399
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 48394875
Gene end: 48444931
  
Corresponding Affymetrix probe sets: 207036_x_at (Human Genome U133 Plus 2.0 Array)   229883_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000263269
NCBI entrez gene - 2906     See in Manteia.
OMIM - 602717
RefSeq - NM_000836
RefSeq - XM_011526872
RefSeq Peptide - NP_000827
swissprot - O15399
Ensembl - ENSG00000105464
  
Related genetic diseases (OMIM): 617162 - Epileptic encephalopathy, early infantile, 46, 617162
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 grin2daENSDARG00000086207Danio rerio
 grin2dbENSDARG00000070620Danio rerio
 Grin2dENSMUSG00000002771Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150945
GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2AENSG0000018345440
GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2BENSG0000027307939
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603220
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878517
GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1ENSG0000017688416
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573715
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220814
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551114
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940314
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387314
GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2ENSG0000016441814
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118914
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257814
GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3ENSG0000012567513
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277113
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025113


Protein motifs (from Interpro)
Interpro ID Name
 IPR001320  Ionotropic glutamate receptor
 IPR001508  Ionotropic glutamate receptor, metazoa
 IPR001828  Receptor, ligand binding region
 IPR019594  Ionotropic glutamate receptor, L-glutamate and glycine-binding domain
 IPR028082  Periplasmic binding protein-like I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001964 startle response IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007420 brain development NAS
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IEA
 biological_processGO:0048167 regulation of synaptic plasticity NAS
 biological_processGO:0051930 regulation of sensory perception of pain IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0097553 calcium ion transmembrane import into cytosol IDA
 biological_processGO:0098976 excitatory chemical synaptic transmission NAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017146 NMDA selective glutamate receptor complex IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0004970 ionotropic glutamate receptor activity IDA
 molecular_functionGO:0004972 NMDA glutamate receptor activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005234 extracellularly glutamate-gated ion channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0022849 glutamate-gated calcium ion channel activity IDA


Pathways (from Reactome)
Pathway description
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
RAF/MAP kinase cascade
Neurexins and neuroligins
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0008936 Muscular hypotonia of the trunk "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0100704 Cortical visual impairment "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson]
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / reaction / complex
 ENSG00000163110 PDLIM5 / Q96HC4 / PDZ and LIM domain 5  / complex / reaction
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction / complex
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction / complex
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / reaction / complex
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction / complex
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / reaction / complex
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000183092 BEGAIN / Q9BUH8 / brain enriched guanylate kinase associated  / complex / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000197555 O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1  / reaction / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / reaction / complex
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex






 

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