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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DLG4 Gene

protein-coding GIFtS: 67
GCID: GC17M007033

discs, large homolog 4 (Drosophila)

Explore 19 diseases affiliated with
DLG4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Discs, Large Homolog 4 (Drosophila)¹ ²		Synapse-Associated Protein 90² ³
PSD95¹ ² ³ ⁵		Discs Large Homolog 4²
SAP90¹ ² ³ ⁵		Disks Large Homolog 4²
SAP-90¹ ² ³		Post-Synaptic Density Protein 95²
PSD-95¹ ³		Tax Interaction Protein 15²
Postsynaptic Density Protein 95² ³

External Ids:	HGNC: 2903¹	Entrez Gene: 1742²	Ensembl: ENSG00000132535⁷	OMIM: 602887⁵	UniProtKB: P78352³

Export aliases for DLG4 gene to outside databases

Previous GC identifers: GC17M007484 GC17M007822 GC17M007036 GC17M007293 GC17M006984

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DLG4:

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with

another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK

proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion

channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found

for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DLG4_HUMAN, P78352

Function: Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required

for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio

of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by

retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity)

Gene Wiki entry for DLG4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DLG4 gene promoter:
AP-2alpha isoform 2 AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DLG4 promoter sequence

Search SABiosciences Chromatin IP Primers for DLG4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DLG4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1 Ensembl cytogenetic band: 17p13.1 HGNC cytogenetic band: 17p13.1

DLG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DLG4 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M007033: view genomic region (about GC identifiers)

Start:	7,093,209 bp from pter	End:	7,123,369 bp from pter
Size:	30,161 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DLG4_HUMAN, P78352 (See protein sequence)

Recommended Name: Disks large homolog 4

Size: 724 amino acids; 80495 Da

Subunit: Interacts with ANKS1B, KLHL17 and PRR7 (By similarity). Interacts through its PDZ domains with NETO1.

Interacts through its first two PDZ domains with GRIN2A, GRIN2B, GRIN2C, GRIN2D, ASIC3, certain splice forms of GRIN1,

KCND2, CXADR and SYNGAP1. Interacts through its second PDZ domain with the PDZ domain of NOS1 or the C-terminus of

CAPON. May interact with HTR2A. Interacts through its guanylate kinase-like domain with DLGAP1/GKAP, DLGAP2, DLGAP3,

DLGAP4, MAP1A and BEGAIN. Interacts through its third PDZ domain with CRIPT (By similarity). Interacts through its

first two PDZ domains with KCNA1, KCNA2, KCNA3, KCNA4 and ERBB4. Interacts through its first PDZ domain with GRIK2,

KCNA4 and CRIPT. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts

through its guanylate kinase-like domain with KIF13B. Isoform 2 interacts through an L27 domain with HGS/HRS and the

first L27 domain of CASK. Interacts with LRFN1, LRFN2 and LRFN4. Interacts with ANO2, ADAM22 and LGI1 (By similarity).

Interacts with FRMPD4 (via C-terminus). Interacts (via PDZ1 and PDZ2 domains) with LRRC4; LRRC4B and SEMA4C. Interacts

(via guanylate kinase-like domain) with SIPA1L1 (By similarity)

Subcellular location: Cell membrane; Peripheral membrane protein. Cell junction, synapse, postsynaptic cell membrane,

postsynaptic density. Cell junction, synapse. Cell junction, synapse, synaptosome (By similarity). Note=High levels in

postsynaptic density of neurons in the forebrain. Also in presynaptic region of inhibitory synapses formed by

cerebellar basket cells on axon hillocks of Purkinje cells

4 PDB 3D structures from and Proteopedia for DLG4:

1KEF (3D)

3I4W (3D)

3K82 (3D)

3ZRT (3D)

Secondary accessions: B7Z1S1 Q92941 Q9UKK8

Alternative splicing: 2 isoforms: P78352-1 P78352-2 (Ref.3 (AAD56173) sequence is in conflict in position: 46:E->V)

Explore the universe of human proteins at neXtProt for DLG4: NX_P78352

Post-translational modifications:

Palmitoylation of isoform 1 is required for targeting to postsynaptic density (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P78352

DLG4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001122299.1 NP_001356.1

ENSEMBL proteins:

ENSP00000382425 ENSP00000307471 ENSP00000382428 ENSP00000467897 ENSP00000460625

ENSP00000407918 ENSP00000467542 ENSP00000388122 ENSP00000465720 ENSP00000465789

ENSP00000293813

Reactome Protein details: P78352
Human Recombinant Protein Products for DLG4:

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	Novus Biologicals DLG4 Proteins Novus Biologicals DLG4 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DLG4

Gene Ontology (GO): 5/19 cellular component terms (GO ID links to tree view) (see all 19): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005886	plasma membrane	TAS	--
GO:0008021	synaptic vesicle	IEA	--
GO:0008328	colocalizes with ionotropic glutamate receptor complex	ISS	--

DLG4 for ontologies About GeneDecksing

DLG4 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DLG4
	R&D Systems Antibodies for DLG4 (PSD-95)
	Cell Signaling Technology (CST) Antibodies for DLG4 (PSD-95)
	OriGene Antibodies (see all 5): DLG4 OriGene Custom Antibody Services for DLG4
	GenScript Superior Antibodies for DLG4
	Novus Biologicals DLG4 Antibodies
	Abcam antibodies for DLG4
	Uscn Antibodies for DLG4
	ThermoFisher Antibody for DLG4

Assay Products for DLG4:

	EMD Millipore Kits and Assays for the Analysis of DLG4
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DLG4
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DLG4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DLG4 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR008144 Guanylate_kin

IPR008145 Guanylate_kin/L-typ_Ca_channel

IPR001478 PDZ

IPR016313 M-assoc_guanylate_kinase

IPR001452 SH3_domain

Graphical View of Domain Structure for InterPro Entry P78352

ProtoNet protein and cluster: P78352

3 Blocks protein families:

IPB001452 SH3 domain signature

IPB001478 PDZ/DHR/GLGF domain

IPB008144 Guanylate kinase

UniProtKB/Swiss-Prot: DLG4_HUMAN, P78352

Domain: The PDZ domain 3 mediates interaction with ADR1B

Domain: The L27 domain near the N-terminus of isoform 2 is required for HGS/HRS-dependent targeting to postsynaptic

density

Similarity: Belongs to the MAGUK family

Similarity: Contains 1 guanylate kinase-like domain

Similarity: Contains 3 PDZ (DHR) domains

Similarity: Contains 1 SH3 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DLG4_HUMAN, P78352

Function: Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required

for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio

of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by

retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B (By similarity)

Genatlas biochemistry entry for DLG4:

Drosophila tumor suppressor gene,discs large (Dlg) homolog 4,expressed in neuronal and nonneuronal tissues at

postsynaptic sites,heterodimerizing with DLG2,recruited into the same NMDA receptor and Shaker-type potassium channel

clusters

Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	--	--
GO:0005515	protein binding	IPI	16767099
GO:0008022	protein C-terminus binding	IPI	7477295
GO:0019903	protein phosphatase binding	IEA	--
GO:0030165	PDZ domain binding	IEA	--

DLG4 for ontologies About GeneDecksing

Phenotypes:
7 GenomeRNAi human phenotypes for DLG4:

Decreased telomerase activity	Increased Salmonella enterica	Increased Salmonella enterica	Increased Salmonella enterica
Increased Salmonella enterica	Increased Salmonella-containin	Synthetic lethal with Ras

8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Dlg4):

adipose tissue	behavior/neurological	growth/size	hematopoietic system	homeostasis/metabolism
integument	mortality/aging	nervous system

DLG4 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for DLG4: Dlg4^tm2.1Grnt Dlg4^tm1Rlh

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for DLG4

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DLG4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DLG4
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate DLG4 (see all 45):
		hsa-miR-3678-3p hsa-miR-3653 hsa-miR-371-5p hsa-miR-650 hsa-miR-298 hsa-miR-149 hsa-miR-3613-3p hsa-miR-3148

		SwitchGear 3'UTR luciferase reporter plasmid: DLG4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for DLG4
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DLG4 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DLG4 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DLG4

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

CREB phosphorylation through the activation of CaMKII

	CREB phosphorylation through the activation of CaMKII	1.00			Unblocking of NMDA receptor, glutamate binding and activation	0.68
	Ras activation uopn Ca2+ infux through NMDA receptor	0.78

Post NMDA receptor activation events

	Post NMDA receptor activation events	1.00			CREB phosphorylation through the activation of Ras	0.82
	Activation of NMDA receptor upon glutamate binding and postsynaptic events	0.89

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

G beta:gamma signalling through PLC beta

	Activation of Kainate Receptors upon glutamate binding	0.67			Ionotropic activity of Kainate Receptors	0.00
	Activation of Ca-permeable Kainate Receptor	0.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for DLG4

	Cytoplasmic microtubules
	Calcium channels

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for DLG4

	Huntington's Disease Pathway
	nNOS Signaling at Neuronal Synapses

1 Cell Signaling Technology (CST) Pathway for DLG4

Neuroscience

2 BioSystems Pathways for DLG4

	Wnt Signaling Pathway NetPath
	ErbB4 signaling events

5/18 Reactome Pathways for DLG4 (see all 18)

	L1CAM interactions
	Developmental Biology
	Unblocking of NMDA receptor, glutamate binding and activation
	Activation of Kainate Receptors upon glutamate binding
	Transmission across Chemical Synapses

2 Kegg Pathways (Kegg details for DLG4):

	Glutamatergic synapse
	Huntington's disease

DLG4 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DLG4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/391 Interacting proteins for DLG4 (P78352^{1, 2, 3} ENSP00000293813⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 391)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CRIPT	Q9P021²^,³, ENSP00000238892⁴	MINT-1901542 MINT-1901071 MINT-1901612 MINT-1900589 I2D: score=4 STRING: ENSP00000238892
KCNA4	P22459²^,³, ENSP00000328511⁴	MINT-1901203 MINT-1900477 I2D: score=9 STRING: ENSP00000328511
APP	P05067²^,³, ENSP00000284981⁴	MINT-7894154 MINT-7894116 I2D: score=2 STRING: ENSP00000284981
GRIN2B	Q13224²^,³, ENSP00000279593⁴	MINT-1899852 MINT-1900667 I2D: score=11 STRING: ENSP00000279593
GRIN2D	O15399²^,³, ENSP00000263269⁴	MINT-1901005 I2D: score=6 STRING: ENSP00000263269

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001973	adenosine receptor signaling pathway	ISS	--
GO:0002091	negative regulation of receptor internalization	IEA	--
GO:0006461	protein complex assembly	IDA	15496675
GO:0007165	signal transduction	TAS	10364559
GO:0007268	synaptic transmission	TAS	--

DLG4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DLG4 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DLG4

2 DrugBank Compounds for DLG4 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Guanidine	Aminomethanamidine (see all 9)	113-00-8	target	--	17139284 17016423 10592235
Guanosine-5'-Monophosphate	--	85-32-5	target	--	17139284 17016423 10592235

10/19 Novoseek chemical compound relationships for DLG4 gene (see all 19) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nmda	84.5	262	14529713 (7), 18992785 (5), 17179037 (5), 9454832 (4) (see all 99)
guanylate	76.8	43	9024696 (2), 11779506 (2), 8938729 (2), 9286858 (2) (see all 30)
glutamate	73.3	68	11080203 (5), 10037761 (3), 11955437 (2), 12562952 (2) (see all 41)
2-bromopalmitate	56.7	1	16421296 (1)
kainate	53.9	14	11279111 (3), 12562952 (2), 12597860 (1), 14969737 (1) (see all 8)
tyrosine	35.5	28	14529711 (2), 15854593 (2), 10748194 (2), 12810713 (2) (see all 13)
calcium	29.1	21	10364559 (3), 18554934 (2), 16712498 (1), 16719808 (1) (see all 15)
nitric oxide	24	21	10364559 (3), 19075115 (2), 18554934 (1), 19627650 (1) (see all 12)
gaba	17.1	2	18512761 (1), 18006501 (1)
potassium	16	13	9867876 (2), 17666528 (1), 17950729 (1), 9148889 (1) (see all 9)

Search CenterWatch for drugs/clinical trials and news about DLG4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DLG4 gene (2 alternative transcripts):

NM_001128827.1 NM_001365.3

Unigene Cluster for DLG4:

Discs, large homolog 4 (Drosophila)

Hs.463928 [show with all ESTs]

Unigene Representative Sequence: NM_001365

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000489885 ENST00000399506 ENST00000302955(uc010vtn.2 uc010cly.3)

ENST00000399510 ENST00000491753 ENST00000485100(uc002geu.3) ENST00000451807

ENST00000471159 ENST00000447163 ENST00000486626 ENST00000493294 ENST00000293813(uc010vtm.2 uc002get.4 uc010vto.2)

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		hsa-miR-3678-3p hsa-miR-3653 hsa-miR-371-5p hsa-miR-650 hsa-miR-298 hsa-miR-149 hsa-miR-3613-3p hsa-miR-3148

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		Sirion Biotech Custom design and validation of potent shRNA sequences against DLG4

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DLG4

Additional cDNA sequence:

AF028825.1 AK293835.1 AK296357.1 AK297346.1 AK299801.1 AK307804.1 AK308533.1 AK316096.1

BC030203.1 BC040533.1 BC136553.1 BC144237.1 U68138.1 U83192.1

9 DOTS entries:

DT.100766018 DT.114521 DT.120902957 DT.95163657 DT.95163659 DT.99975597 DT.91923360 DT.97799166

DT.40278494

24/138 AceView cDNA sequences (see all 138):

BE704195 BM703005 AI792325 F08587 AI124569 AF028825 BI916837 BM715229

BE704220 BQ638544 AA984270 AA326156 CD678803 AA322688 BE704276 BE838865

CB852065 BX433060 AI571947 F03047 AW072027 AA326639 BX440129 AA323746

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DLG4 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21a	·
SP1:							-		-		-				-		-																		-
SP2:											-				-		-				-
SP3:											-						-				-
SP4:																					-
SP5:

ExUns:	21b	^	22	^	23	^	24	^	25a	·	25b
SP1:
SP2:
SP3:
SP4:
SP5:					-

ECgene alternative splicing isoforms for DLG4

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DLG4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTGGAAGGT

About this image

DLG4 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

5 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature L Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature M Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature M-S Cone Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Eye

Outer Nuclear Layer

Mature S Cone Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

See DLG4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DLG4

SOURCE GeneReport for Unigene cluster: Hs.463928

UniProtKB/Swiss-Prot: DLG4_HUMAN, P78352

Tissue specificity: Brain

SABiosciences Expression via Pathway-Focused PCR Arrays including DLG4:

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Nitric Oxide Signaling Pathway in human mouse rat

Huntington's Disease in human mouse rat

Synaptic Plasticity in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DLG4 gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	DLG4⁶	--	93(a)	1 ↔ 1	GL344541.1(22287-29554)
African clawed frog (Xenopus laevis)	Amphibia	Xl.31985²	Xenopus laevis transcribed sequence with moderate similarity more	76.34(n)		BX851259.1
zebrafish (Danio rerio)	Actinopterygii	dlg4¹	discs, large homolog 4 (Drosophila)	73.75(n) 83.92(a)		100000823 XM_001340911.4 XP_001340947.4
fruit fly (Drosophila melanogaster)	Insecta	dlg1³	establishment and/or maintenance of polarity of more	52(a)		--
worm (Caenorhabditis elegans)	Secernentea	dlg-1³	guanylate kinase	42(a)		X(5514745-5519401) --

ENSEMBL Gene Tree for DLG4 (if available)
TreeFam Gene Tree for DLG4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DLG4 gene

MPP6² MPP7² DLG3² MPP5² DLG2² MPP2² MPP4² DLG1²

CASK² MPP1² MPP3²

18/54 SIMAP similar genes for DLG4 using alignment to 14 protein entries: DLG4_HUMAN (see all proteins) (see all similar genes):

DKFZp761P0818 DLG1 DLG3 SNTB2 DLG2 SYNJ2BP

DVL2 DVL3 DVL1 LIN7A DFNB31 TJP2

TJP1 PDZD2 INADL PCLO PTPN13 USH1C

DLG4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11657889^1,2	C,H	--	6984425(+)	`gaatcG/Acttga`	2	--	ds500¹		1		NA	2
rs55742293^1,2		--	6984459(+)	`GAGCCA/GAGATC`	2	--	ds500¹		0	--	--	--	--
rs113204173^1,2	C,F	--	6984464(+)	`GAGATC/TGAGCC`	2	--	ds500¹		2		WA CSA	4
rs79715480^1,2	C	--	6984554(+)	`TCCTAG/CCTCTG`	2	--	ds500¹		3		NA WA	240
rs56388006^1,2		--	6984983(+)	`AGCATC/TTCCAG`	2	--	ut3¹		0	--	--	--	--
rs188776^1,2	C	--	6985242(-)	`TTTCCA/CCTTTT`	2	--	ut3¹		1		NA	2
rs78160041^1,2	C,F	--	6985899(+)	`AGGGGG/ATTGCA`	2	--	int¹		1		WA	118
rs62061429^1,2		--	6986608(+)	`CTTCAC/TCCTTC`	2	--	int¹		1		NA	2
rs2586539^1,2	C,F,H	--	6986791(-)	`CCTGAG/CGGGGA`	2	--	int¹		9		NS EA NA	646
rs2586538^1,2	H	--	6987152(-)	`TTCTTG/CACATC`	2	--	int¹		4		NS EA	418

HapMap Linkage Disequilibrium report for DLG4 (7093209 - 7123369 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DLG4: --

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DLG4 for disorders           About GeneDecksing

OMIM gene information: 602887    OMIM disorders: --

19 diseases for DLG4:    About MalaCards

familial adenomatous polyposis brain injury nicotine dependence intellectual disability

bipolar disorder polyposis brain ischemia alzheimer's disease

ischemia huntington's disease schizophrenia neurodegeneration

dementia lung carcinoma cerebritis cholesterol

carcinoma neuronitis alcoholism

1 disease from the University of Copenhagen DISEASES database for DLG4:

Brain ischemia

10 Novoseek disease relationships for DLG4 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypofunction	52.1	1	17093888 (1)
ischemic brain injury	42.1	1	19610093 (1)
schizophrenia	38.4	22	17093888 (4), 20175224 (3), 18033238 (2), 16762023 (2) (see all 11)
alzheimers disease	25.5	1	18424056 (1)
familial adenomatous polyposis	19.8	2	9286858 (1), 11029657 (1)
bipolar disorder	12.1	5	18033238 (2), 15054476 (1)
tumors	0.498	4	17121805 (1), 17316619 (1), 19617690 (1), 8824809 (1)
ischemia	0	4	15854593 (1), 17018532 (1), 18338255 (1)
dysplasia	0	1	15030493 (1)
epilepsy	0	2	15030493 (1)

Genetic Association Database (GAD): DLG4
Human Genome Epidemiology (HuGE) Navigator: DLG4 (10 documents)

Export disorders for DLG4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DLG4 gene, integrated from 9 sources (see all 392):
(articles sorted by number of sources associating them with DLG4)

Utopia: connect your pdf to the dynamic
world of online information

Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues. (PubMed id 9286702)^{1, 2, 3, 9} Stathakis D.G.... Bryant P.J. (1997)
The PDZ1 domain of SAP90. Characterization of structure and binding. (PubMed id 11744724)^{1, 2, 9} Piserchio A....Mierke D.F. (2002)
GAKIN, a novel kinesin-like protein associates with the human homologue of the Drosophila discs large tumor suppressor in T lymphocytes. (PubMed id 10859302)^{1, 2, 9} Hanada T.... Chishti A.H. (2000)
Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases. (PubMed id 7477295)^{1, 2, 9} Kim E.... Sheng M. (1995)
Preso, a novel PSD-95-interacting FERM and PDZ domain protein that regulates dendritic spine morphogenesis. (PubMed id 19118189)^{1, 2} Lee H.W....Kim E. (2008)
Mutation and association analysis of the DAP-1 gene with schizophrenia. (PubMed id 12950712)^{1, 4} Aoyama S....Maeda K. (2003)
Postsynaptic targeting of alternative postsynaptic density-95 isoforms by distinct mechanisms. (PubMed id 12151521)^{1, 2} Chetkovich D.M....Bredt D.S. (2002)
The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses. (PubMed id 10725395)^{1, 2} Garcia R.A.... Buonanno A. (2000)
Binding of neuroligins to PSD-95. (PubMed id 9278515)^{1, 2} Irie M.... Suedhof T.C. (1997)
Overlapping gene structure of human VLCAD and DLG4. (PubMed id 12609736)^{1, 9} Zhou C. and Blumberg B. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1742	HGNC: 2903	AceView: DLG4	Ensembl:ENSG00000132535	euGenes: HUgn1742
ECgene: DLG4	Kegg: 1742	H-InvDB: DLG4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DLG4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DLG4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DLG4 gene:
Search GeneIP for patents involving DLG4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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discs, large homolog 4 (Drosophila)

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DLG4 Gene

discs, large homolog 4 (Drosophila)

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