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DLG4 (discs large MAGUK scaffold protein 4)

Identity

Alias_namesdiscs, large homolog 4 (Drosophila)
discs large homolog 4
Alias_symbol (synonym)PSD-95
PSD95
SAP90
SAP-90
Other alias
HGNC (Hugo) DLG4
LocusID (NCBI) 1742
Atlas_Id 54255
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 7189891 and ends at 7217629 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACADVL (17p13.1) / DLG4 (17p13.1)DLG4 (17p13.1) / ACTB (7p22.1)DLG4 (17p13.1) / DLG4 (17p13.1)
DLG4 (17p13.1) / MARCH10 (17q23.2)DLG4 (17p13.1) / SHBG (17p13.1)DLG4 17p13.1 / MARCH10 17q23.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DLG4   2903
Cards
Entrez_Gene (NCBI)DLG4  1742  discs large MAGUK scaffold protein 4
AliasesPSD95; SAP-90; SAP90
GeneCards (Weizmann)DLG4
Ensembl hg19 (Hinxton)ENSG00000132535 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000132535 [Gene_View]  chr17:7189891-7217629 [Contig_View]  DLG4 [Vega]
ICGC DataPortalENSG00000132535
TCGA cBioPortalDLG4
AceView (NCBI)DLG4
Genatlas (Paris)DLG4
WikiGenes1742
SOURCE (Princeton)DLG4
Genetics Home Reference (NIH)DLG4
Genomic and cartography
GoldenPath hg38 (UCSC)DLG4  -     chr17:7189891-7217629 -  17p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DLG4  -     17p13.1   [Description]    (hg19-Feb_2009)
EnsemblDLG4 - 17p13.1 [CytoView hg19]  DLG4 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIDLG4 [Mapview hg19]  DLG4 [Mapview hg38]
OMIM602887   
Gene and transcription
Genbank (Entrez)AA954439 AF028825 AI571947 AK293835 AK296357
RefSeq transcript (Entrez)NM_001128827 NM_001321074 NM_001321075 NM_001321076 NM_001321077 NM_001365
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DLG4
Cluster EST : UnigeneHs.463928 [ NCBI ]
CGAP (NCI)Hs.463928
Alternative Splicing GalleryENSG00000132535
Gene ExpressionDLG4 [ NCBI-GEO ]   DLG4 [ EBI - ARRAY_EXPRESS ]   DLG4 [ SEEK ]   DLG4 [ MEM ]
Gene Expression Viewer (FireBrowse)DLG4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1742
GTEX Portal (Tissue expression)DLG4
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78352   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78352  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78352
Splice isoforms : SwissVarP78352
PhosPhoSitePlusP78352
Domaine pattern : Prosite (Expaxy)GUANYLATE_KINASE_1 (PS00856)    GUANYLATE_KINASE_2 (PS50052)    PDZ (PS50106)    SH3 (PS50002)   
Domains : Interpro (EBI)DLG1_PEST_dom    GK/Ca_channel_bsu    Guanylate_kin-like_dom    Guanylate_kinase_CS    P-loop_NTPase    PDZ    PDZ_assoc    SH3_domain   
Domain families : Pfam (Sanger)Guanylate_kin (PF00625)    MAGUK_N_PEST (PF10608)    PDZ (PF00595)    PDZ_assoc (PF10600)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00625    pfam10608    pfam00595    pfam10600    pfam00018   
Domain families : Smart (EMBL)GuKc (SM00072)  MAGUK_N_PEST (SM01277)  PDZ (SM00228)  SH3 (SM00326)  
Conserved Domain (NCBI)DLG4
DMDM Disease mutations1742
Blocks (Seattle)DLG4
PDB (SRS)1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
PDB (PDBSum)1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
PDB (IMB)1KEF    2MES<»A>&n"sp9   3I4W    3K82    3ZRT    5JXB   
PDB (RSDB)1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
Structural Biology KnowledgeBase1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
SCOP (Structural Classification of Proteins)1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
CATH (Classification of proteins structures)1KEF    2MES    3I4W    3K82    3ZRT    5JXB   
SuperfamilyP78352
Human Protein AtlasENSG00000132535
Peptide AtlasP78352
HPRD04199
IPIIPI00619928   IPI00019213   IPI01015646   IPI00789794   IPI00030769   IPI01015605   IPI00790551   IPI00798304   
Protein Interaction databases
DIP (DOE-UCLA)P78352
IntAct (EBI)P78352
FunCoupENSG00000132535
BioGRIDDLG4
STRING (EMBL)DLG4
ZODIACDLG4
Ontologies - Pathways
QuickGOP78352
Ontology : AmiGOMAPK cascade  negative regulation of receptor internalization  guanylate kinase activity  Ras guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  endoplasmic reticulum  cytosol  plasma membrane  plasma membrane  protein complex assembly  signal transduction  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  nervous system development  learning  synaptic vesicle  protein C-terminus binding  voltage-gated potassium channel complex  ionotropic glutamate receptor complex  ionotropic glutamate receptor complex  postsynaptic density  postsynaptic density  ligand-gated ion channel activity  synaptic vesicle maturation  basolateral plasma membrane  kinase binding  protein phosphatase binding  cell junction  PDZ domain binding  endocytic vesicle membrane  cortical cytoskeleton  extrinsic component of cytoplasmic side of plasma membrane  beta-1 adrenergic receptor binding  D1 dopamine receptor binding  P2Y1 nucleotide receptor binding  AMPA glutamate receptor complex  protein complex binding  dendrite cytoplasm  acetylcholine receptor binding  ion transmembrane transport  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  protein localization to synapse  locomotory exploration behavior  dendritic spine  positive regulation of GTPase activity  juxtaparanode region of axon  cerebellar mossy fiber  neuron projection terminus  neuron spine  establishment of protein localization  establishment or maintenance of epithelial cell apical/basal polarity  synapse  postsynaptic membrane  GMP metabolic process  GDP metabolic process  regulation of long-term neuronal synaptic plasticity  positive regulation of synaptic transmission  neuromuscular process controlling balance  excitatory synapse  dendritic spine morphogenesis  vocalization behavior  neuroligin family protein binding  scaffold protein binding  AMPA glutamate receptor clustering  AMPA glutamate receptor clustering  receptor localization to synapse  receptor localization to synapse  postsynaptic density membrane  regulation of NMDA receptor activity  positive regulation of excitatory postsynaptic potential  regulation of grooming behavior  
Ontology : EGO-EBIMAPK cascade  negative regulation of receptor internalization  guanylate kinase activity  Ras guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  endoplasmic reticulum  cytosol  plasma membrane  plasma membrane  protein complex assembly  signal transduction  positive regulation of cytosolic calcium ion concentration  chemical synaptic transmission  nervous system development  learning  synaptic vesicle  protein C-terminus binding  voltage-gated potassium channel complex  ionotropic glutamate receptor complex  ionotropic glutamate receptor complex  postsynaptic density  postsynaptic density  ligand-gated ion channel activity  synaptic vesicle maturation  basolateral plasma membrane  kinase binding  protein phosphatase binding  cell junction  PDZ domain binding  endocytic vesicle membrane  cortical cytoskeleton  extrinsic component of cytoplasmic side of plasma membrane  beta-1 adrenergic receptor binding  D1 dopamine receptor binding  P2Y1 nucleotide receptor binding  AMPA glutamate receptor complex  protein complex binding  dendrite cytoplasm  acetylcholine receptor binding  ion transmembrane transport  social behavior  ionotropic glutamate receptor binding  ionotropic glutamate receptor binding  protein localization to synapse  locomotory exploration behavior  dendritic spine  positive regulation of GTPase activity  juxtaparanode region of axon  cerebellar mossy fiber  neuron projection terminus  neuron spine  establishment of protein localization  establishment or maintenance of epithelial cell apical/basal polarity  synapse  postsynaptic membrane  GMP metabolic process  GDP metabolic process  regulation of long-term neuronal synaptic plasticity  positive regulation of synaptic transmission  neuromuscular process controlling balance  excitatory synapse  dendritic spine morphogenesis  vocalization behavior  neuroligin family protein binding  scaffold protein binding  AMPA glutamate receptor clustering  AMPA glutamate receptor clustering  receptor localization to synapse  receptor localization to synapse  postsynaptic density membrane  regulation of NMDA receptor activity  positive regulation of excitatory postsynaptic potential  regulation of grooming behavior  
Pathways : BIOCARTANitric Oxide Signaling Pathway [Genes]    Synaptic Proteins at the Synaptic Junction [Genes]   
Pathways : KEGGHippo signaling pathway    Glutamatergic synapse    Huntington's disease    Cocaine addiction   
NDEx NetworkDLG4
Atlas of Cancer Signalling NetworkDLG4
Wikipedia pathwaysDLG4
Orthology - Evolution
OrthoDB1742
GeneTree (enSembl)ENSG00000132535
Phylogenetic Trees/Animal Genes : TreeFamDLG4
HOVERGENP78352
HOGENOMP78352
Homologs : HomoloGeneDLG4
Homology/Alignments : Family Browser (UCSC)DLG4
Gene fusions - Rearrangements
Fusion : MitelmanDLG4/MARCH10 [17p13.1/17q23.2]  
Fusion : MitelmanDLG4/SHBG [17p13.1/17p13.1]  [inv(17)(p13p13)]  
Fusion: TCGADLG4 17p13.1 MARCH10 17q23.2 KIRC
Fusion Cancer (Beijing)DLG4 [17p13.1]  -  ACTB [7p22.1]  [FUSC001350]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDLG4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DLG4
dbVarDLG4
ClinVarDLG4
1000_GenomesDLG4 
Exome Variant ServerDLG4
ExAC (Exome Aggregation Consortium)DLG4 (select the gene name)
Genetic variants : HAPMAP1742
Genomic Variants (DGV)DLG4 [DGVbeta]
DECIPHERDLG4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDLG4 
Mutations
ICGC Data PortalDLG4 
TCGA Data PortalDLG4 
Broad Tumor PortalDLG4
OASIS PortalDLG4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDLG4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDLG4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DLG4
DgiDB (Drug Gene Interaction Database)DLG4
DoCM (Curated mutations)DLG4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DLG4 (select a term)
intoGenDLG4
Cancer3DDLG4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602887   
Orphanet
MedgenDLG4
Genetic Testing Registry DLG4
NextProtP78352 [Medical]
TSGene1742
GENETestsDLG4
Target ValidationDLG4
Huge Navigator DLG4 [HugePedia]
snp3D : Map Gene to Disease1742
BioCentury BCIQDLG4
ClinGenDLG4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1742
Chemical/Pharm GKB GenePA27359
Clinical trialDLG4
Miscellaneous
canSAR (ICR)DLG4 (select the gene name)
Probes
Litterature
PubMed192 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDLG4
EVEXDLG4
GoPubMedDLG4
iHOPDLG4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:51:43 CEST 2017

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