ENSG00000082458


Homo sapiens

Features
Gene ID: ENSG00000082458
  
Biological name :DLG3
  
Synonyms : discs large MAGUK scaffold protein 3 / DLG3 / Q92796
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q13.1
Gene start: 70444861
Gene end: 70505490
  
Corresponding Affymetrix probe sets: 207732_s_at (Human Genome U133 Plus 2.0 Array)   212727_at (Human Genome U133 Plus 2.0 Array)   212728_at (Human Genome U133 Plus 2.0 Array)   212729_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000194900
Ensembl peptide - ENSP00000363475
Ensembl peptide - ENSP00000363480
Ensembl peptide - ENSP00000441393
NCBI entrez gene - 1741     See in Manteia.
OMIM - 300189
RefSeq - XM_017029327
RefSeq - NM_001166278
RefSeq - NM_020730
RefSeq - NM_021120
RefSeq - XM_017029322
RefSeq - XM_017029323
RefSeq - XM_017029324
RefSeq - XM_017029325
RefSeq - XM_017029326
RefSeq - XM_005262248
RefSeq - XM_006724625
RefSeq - XM_006724626
RefSeq - XM_011530883
RefSeq Peptide - NP_065781
RefSeq Peptide - NP_066943
RefSeq Peptide - NP_001159750
swissprot - Q5JUW8
swissprot - Q92796
Ensembl - ENSG00000082458
  
Related genetic diseases (OMIM): 300850 - Mental retardation, X-linked 90, 300850
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
 dlg3ENSDARG00000076796Danio rerio
 DLG3ENSGALG00000041900Gallus gallus
 Dlg3ENSMUSG00000000881Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DLG2 / Q15700 / discs large MAGUK scaffold protein 2ENSG0000015067267
DLG1 / Q12959 / discs large MAGUK scaffold protein 1ENSG0000007571166
DLG4 / P78352 / discs large MAGUK scaffold protein 4ENSG0000013253558
DLG5 / Q8TDM6 / discs large MAGUK scaffold protein 5ENSG0000015120824
MPP7 / Q5T2T1 / membrane palmitoylated protein 7ENSG0000015005420
TJP3 / O95049 / tight junction protein 3ENSG0000010528920
MPP5 / Q8N3R9 / membrane palmitoylated protein 5ENSG0000007241520
AL358113.1ENSG0000028513020
TJP2 / Q9UDY2 / tight junction protein 2ENSG0000011913919
TJP1 / Q07157 / tight junction protein 1ENSG0000010406719
MPP6 / Q9NZW5 / membrane palmitoylated protein 6ENSG0000010592618
MPP3 / Q13368 / membrane palmitoylated protein 3ENSG0000016164718
MPP2 / Q14168 / membrane palmitoylated protein 2ENSG0000010885218
MPP4 / Q96JB8 / membrane palmitoylated protein 4ENSG0000008212618
CASK / O14936 / calcium/calmodulin dependent serine protein kinaseENSG0000014704417
MPP1 / Q00013 / membrane palmitoylated protein 1ENSG0000013083015
GUK1 / Q16774 / guanylate kinase 1ENSG000001437748


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR008144  Guanylate kinase-like domain
 IPR008145  Guanylate kinase/L-type calcium channel beta subunit
 IPR016313  Disks large 1-like
 IPR019583  PDZ-associated domain of NMDA receptors
 IPR019590  Disks large homologue 1, N-terminal PEST domain
 IPR020590  Guanylate kinase, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR035763  Disks Large homologue 3, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001736 establishment of planar polarity IEA
 biological_processGO:0007268 chemical synaptic transmission IBA
 biological_processGO:0007399 nervous system development IBA
 biological_processGO:0008285 negative regulation of cell proliferation NAS
 biological_processGO:0010923 negative regulation of phosphatase activity IDA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0043113 receptor clustering IBA
 biological_processGO:0045197 establishment or maintenance of epithelial cell apical/basal polarity IBA
 biological_processGO:0046037 GMP metabolic process IEA
 biological_processGO:0046710 GDP metabolic process IEA
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity ISS
 biological_processGO:0097120 receptor localization to synapse IBA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0008328 ionotropic glutamate receptor complex IBA
 cellular_componentGO:0014069 postsynaptic density IBA
 cellular_componentGO:0016323 basolateral plasma membrane IBA
 cellular_componentGO:0030426 growth cone IEA
 cellular_componentGO:0032281 AMPA glutamate receptor complex IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043198 dendritic shaft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IBA
 molecular_functionGO:0004385 guanylate kinase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0019900 kinase binding IDA
 molecular_functionGO:0019902 phosphatase binding IDA
 molecular_functionGO:0019903 protein phosphatase binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0030165 PDZ domain binding IEA
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0035255 ionotropic glutamate receptor binding IBA


Pathways (from Reactome)
Pathway description
NrCAM interactions
Activation of Ca-permeable Kainate Receptor
Neurexins and neuroligins
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000708 Behavioural/Psychiatric Abnormality 
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 HP:0000750 Impaired language development 
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 HP:0000774 Narrow chest 
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 HP:0000805 Enuresis "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken]
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 HP:0001249 Mental retardation 
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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:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex
 ENSG00000103942 HOMER2 / Q9NSB8 / homer scaffolding protein 2  / complex / reaction
 ENSG00000136279 DBNL / Q9UJU6 / drebrin like  / reaction / complex
 ENSG00000091129 NRCAM / Q92823 / neuronal cell adhesion molecule  / reaction / complex
 ENSG00000051128 HOMER3 / Q9NSC5 / homer scaffolding protein 3  / complex / reaction
 ENSG00000152822 GRM1 / Q13255 / glutamate metabotropic receptor 1  / complex / reaction
 ENSG00000171189 GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1  / complex
 ENSG00000163110 PDLIM5 / Q96HC4 / PDZ and LIM domain 5  / reaction / complex
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex / reaction
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex
 ENSG00000168959 GRM5 / P41594 / glutamate metabotropic receptor 5  / reaction / complex
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000149403 GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4  / complex
 ENSG00000152413 HOMER1 / Q86YM7 / homer scaffolding protein 1  / complex / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / reaction / complex
 ENSG00000163873 GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3  / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction / complex
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction / complex
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex / reaction
 ENSG00000164418 GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2  / complex
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / complex / reaction
 ENSG00000116544 DLGAP3 / O95886 / DLG associated protein 3  / reaction / complex
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex / reaction
 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
 ENSG00000161681 Q9Y566 / SHANK1 / SH3 and multiple ankyrin repeat domains 1  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex / reaction
 ENSG00000173621 LRFN4 / Q6PJG9 / leucine rich repeat and fibronectin type III domain containing 4  / reaction / complex
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / reaction / complex
 ENSG00000170579 DLGAP1 / O14490 / DLG associated protein 1  / complex / reaction
 ENSG00000080845 DLGAP4 / Q9Y2H0 / DLG associated protein 4  / complex / reaction
 ENSG00000162105 Q9UPX8 / SHANK2 / SH3 and multiple ankyrin repeat domains 2  / complex / reaction
 ENSG00000183092 BEGAIN / Q9BUH8 / brain enriched guanylate kinase associated  / reaction / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / complex / reaction
 ENSG00000197555 O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1  / complex / reaction
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / complex / reaction
 ENSG00000198010 DLGAP2 / Q9P1A6 / DLG associated protein 2  / complex / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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