This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including ... See more...

Aliases for DLG1 Gene

Aliases for DLG1 Gene

  • Discs Large MAGUK Scaffold Protein 1 2 3 5
  • Synapse-Associated Protein 97 2 3 4
  • Discs Large Homolog 1, Scribble Cell Polarity Complex Component 2 3
  • Presynaptic Protein SAP97 2 3
  • Disks Large Homolog 1 3 4
  • SAP-97 3 4
  • SAP97 3 4
  • Discs, Large Homolog 1 (Drosophila) 2
  • Discs Large Homolog 1 2
  • DJ1061C18.1.1 3
  • HSALNG0031996 167
  • Lnc-MELTF-2 168
  • Lnc-MELTF-4 168
  • Lnc-MELTF-3 168
  • DLGH1 3
  • Hdlg 3
  • HDlg 4

External Ids for DLG1 Gene

Previous GeneCards Identifiers for DLG1 Gene

  • GC03M192736
  • GC03M197118
  • GC03M198177
  • GC03M198097
  • GC03M198259
  • GC03M196769
  • GC03M194068

Summaries for DLG1 Gene

Entrez Gene Summary for DLG1 Gene

  • This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]

GeneCards Summary for DLG1 Gene

DLG1 (Discs Large MAGUK Scaffold Protein 1) is a Protein Coding gene. Diseases associated with DLG1 include Cleft Lip/Palate and Depression. Among its related pathways are Transmission across Chemical Synapses and Hippo signaling pathway. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ion channel binding. An important paralog of this gene is DLG2.

UniProtKB/Swiss-Prot Summary for DLG1 Gene

  • Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497).

Gene Wiki entry for DLG1 Gene

Additional gene information for DLG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLG1 Gene

Genomics for DLG1 Gene

GeneHancer (GH) Regulatory Elements for DLG1 Gene

Promoters and enhancers for DLG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J197295 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 517.4 +1.4 1361 5.5 HNRNPK ZSCAN5C NRF1 POLR2G USF1 GTF2E2 PHF8 ZFX ZIC2 ZBTB10 DLG1 DLG1-AS1 lnc-BDH1-9 MELTF CEP19
GH03J197183 Promoter 0.6 EPDnew 500.1 +115.7 115682 0.1 ZIC2 SCRT1 ZNF2 ZNF600 lnc-NCBP2-AS2-9 DLG1 MELTF-AS1 NCBP2 NCBP2-AS1 RF00017-4232
GH03J197301 Enhancer 0.3 Ensembl 500.7 -1.9 -1871 0.4 ZNF362 DLG1 DLG1-AS1 LOC101926923
GH03J197167 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 38.2 +130.4 130403 1.9 ZBTB40 EP300 USF1 RFX1 MXI1 BMI1 RFX5 USF2 POLR2A FOXJ2 DLG1 MELTF-AS1 NCBP2 NCBP2-AS1 lnc-NCBP2-AS2-9 RF00017-4232
GH03J197252 Enhancer 0.8 Ensembl ENCODE 38.7 +42.0 42029 11.4 CTCF REST RAD21 TRIM22 MXI1 ZNF316 SMC3 ZNF384 MAFF MAFK DLG1 MIR922 MELTF piR-32285-069 lnc-NCBP2-AS2-9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLG1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLG1

Top Transcription factor binding sites by QIAGEN in the DLG1 gene promoter:
  • E47
  • Hand1
  • ITF-2
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • NF-kappaB1
  • Tal-1beta

Genomic Locations for DLG1 Gene

Genomic Locations for DLG1 Gene
chr3:197,042,560-197,299,330
(GRCh38/hg38)
Size:
256,771 bases
Orientation:
Minus strand
chr3:196,769,431-197,026,171
(GRCh37/hg19)
Size:
256,741 bases
Orientation:
Minus strand

Genomic View for DLG1 Gene

Genes around DLG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG1 Gene

Proteins for DLG1 Gene

  • Protein details for DLG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12959-DLG1_HUMAN
    Recommended name:
    Disks large homolog 1
    Protein Accession:
    Q12959
    Secondary Accessions:
    • A5YKK7
    • B4DGU1
    • B4DGZ8
    • B7ZMM0
    • B9EIQ5
    • D3DXB8
    • D3DXB9
    • E7EWL7
    • E9PG21
    • Q12958

    Protein attributes for DLG1 Gene

    Size:
    904 amino acids
    Molecular mass:
    100455 Da
    Quaternary structure:
    • Homotetramer (Probable). Interacts (via guanylate kinase-like domain) with DLGAP1, DLGAP2, DLGAP3, DLGAP4 and MAP1A (By similarity). Interacts (via guanylate kinase-like domain) with KIF13B (PubMed:10859302). May interact with HTR2A (By similarity). Interacts (via PDZ domains) with GRIA1 (By similarity). Interacts (via PDZ domains) with GRIN2A (By similarity). Interacts (via PDZ domains) with KCND2 and KCND3 (PubMed:19213956). Interacts (via PDZ domains) with KCNA1, KCNA2, KCNA3 and KCNA4 (PubMed:7477295). Interacts (via PDZ domains) with ADGRA3 (PubMed:15021905). Interacts with KCNF1 (PubMed:12445884). Interacts with CAMK2 (By similarity). Interacts with cytoskeleton-associated protein EPB41 (PubMed:7937897, PubMed:8922391). Interacts with cytoskeleton-associated protein EZR (By similarity). Found in a complex with KCNA5 and CAV3 (By similarity). Found in a complex with APC and CTNNB1 (PubMed:8638125, PubMed:10656683). Interacts with CDH1 through binding to PIK3R1 (PubMed:14699157). Forms multiprotein complexes with CASK, LIN7A, LIN7B, LIN7C, APBA1, and KCNJ12 (By similarity). Interacts with TOPK (PubMed:10779557). Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C) (PubMed:17237226, PubMed:17332497, PubMed:20702775). May interact with TJAP1 (PubMed:11602598). Interacts with PTEN (By similarity). Interacts with FRMPD4 (via C-terminus) (PubMed:19118189). Interacts with LRFN1, LRFN2 and LRFN4 (PubMed:16630835). Interacts with SFPQ (PubMed:20605917). Interacts (via PDZ domains) with ADGRA2 (via PDZ-binding motif) (PubMed:15021905, PubMed:25558062). Interacts with ADAM10; this interaction recruits ADAM10 to the cell membrane during long-term depression in hippocampal neurons (PubMed:23676497).
    • (Microbial infection) Interacts with HTLV-1 protein Tax.
    • (Microbial infection) Interacts with human papillomavirus 18/HPV-18 protein E6.

    Three dimensional structures from OCA and Proteopedia for DLG1 Gene

    Alternative splice isoforms for DLG1 Gene

neXtProt entry for DLG1 Gene

Post-translational modifications for DLG1 Gene

  • Phosphorylated by MAPK12. Phosphorylation of Ser-232 regulates association with GRIN2A (By similarity).
  • Ubiquitination at Lys401
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for DLG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DLG1 Gene

Domains & Families for DLG1 Gene

Protein Domains for DLG1 Gene

Suggested Antigen Peptide Sequences for DLG1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58166, highly similar to Disks large homolog 1 (B4E2H8_HUMAN)
  • hDlg (DLG1_HUMAN)
  • DLG1 protein (Q6PJH1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12959

UniProtKB/Swiss-Prot:

DLG1_HUMAN :
  • The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41 binding site mediating association to membranes in polarized and non-polarized cells.
  • Belongs to the MAGUK family.
Domain:
  • The alternatively spliced domain I3 corresponding to amino acids (636-669) of isoform 4 is an EPB41 binding site mediating association to membranes in polarized and non-polarized cells.
  • The PDZ domains may also mediate association to membranes by binding to EPB41 and ADGRA2 together with the L27 domain that binds CASK and DLG2.
  • The L27 domain may regulate DLG1 self-association. The N-terminal alternatively spliced region is capable of binding several SH3 domains and also moderates the level of protein oligomerization.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG1: view

Function for DLG1 Gene

Molecular function for DLG1 Gene

UniProtKB/Swiss-Prot Function:
Essential multidomain scaffolding protein required for normal development (By similarity). Recruits channels, receptors and signaling molecules to discrete plasma membrane domains in polarized cells. May play a role in adherens junction assembly, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Regulates the excitability of cardiac myocytes by modulating the functional expression of Kv4 channels. Functional regulator of Kv1.5 channel. During long-term depression in hippocampal neurons, it recruits ADAM10 to the plasma membrane (PubMed:23676497).
GENATLAS Biochemistry:
Drosophila tumor suppressor gene,discs large (Dlg) homolog 1,involved in coupling the cytoskeleton to the cell membrane

Phenotypes From GWAS Catalog for DLG1 Gene

Gene Ontology (GO) - Molecular Function for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity TAS 7937897
GO:0004721 phosphoprotein phosphatase activity TAS 15302935
GO:0005515 protein binding IEA,IPI 8922391
GO:0008022 protein C-terminus binding IPI 11274188
GO:0008092 cytoskeletal protein binding TAS 8825652
genes like me logo Genes that share ontologies with DLG1: view
genes like me logo Genes that share phenotypes with DLG1: view

Human Phenotype Ontology for DLG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLG1 Gene

MGI Knock Outs for DLG1:

Animal Model Products

CRISPR Products

miRNA for DLG1 Gene

miRTarBase miRNAs that target DLG1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLG1

Clone Products

  • Addgene plasmids for DLG1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLG1 Gene

Localization for DLG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLG1 Gene

Membrane; Peripheral membrane protein. Basolateral cell membrane. Endoplasmic reticulum membrane. Cell junction, synapse, postsynaptic density. Cell junction, synapse. Cell membrane, sarcolemma. Apical cell membrane. Cell junction. Cytoplasm. Note=Colocalizes with EPB41 at regions of intercellular contacts. Basolateral in epithelial cells (PubMed:12807908). May also associate with endoplasmic reticulum membranes. Mainly found in neurons soma, moderately found at postsynaptic densities (By similarity). {ECO:0000250 UniProtKB:Q62696, ECO:0000269 PubMed:10859302, ECO:0000269 PubMed:12807908, ECO:0000269 PubMed:8922391, ECO:0000269 PubMed:9192623}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLG1 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
extracellular 3
endosome 2
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse TAS 19841189
GO:0005604 basement membrane IEA --
GO:0005623 cell IEA --
GO:0005634 nucleus IDA 17237226
GO:0005737 cytoplasm IEA,IDA 17237226
genes like me logo Genes that share ontologies with DLG1: view

Pathways & Interactions for DLG1 Gene

genes like me logo Genes that share pathways with DLG1: view

SIGNOR curated interactions for DLG1 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for DLG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 20551903
GO:0000165 MAPK cascade TAS --
GO:0001657 ureteric bud development IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
GO:0001771 immunological synapse formation IEA --
genes like me logo Genes that share ontologies with DLG1: view

Drugs & Compounds for DLG1 Gene

(11) Drugs for DLG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for DLG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLG1: view

Transcripts for DLG1 Gene

mRNA/cDNA for DLG1 Gene

27 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
71 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
6 RNACentral transcripts :
2 LncBook transcripts :
3 LNCipedia transcripts :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLG1

Clone Products

  • Addgene plasmids for DLG1

Alternative Splicing Database (ASD) splice patterns (SP) for DLG1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - - - - - - - - -
SP2: -
SP3: - -
SP4:
SP5:
SP6: - - - -
SP7: - -
SP8: - - - - - - -
SP9:
SP10: - - - -
SP11:
SP12:

ExUns: 18 ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for DLG1 Gene

GeneLoc Exon Structure for
DLG1

Expression for DLG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DLG1 Gene

This gene is overexpressed in Frontal cortex (9.1), Amniocyte (8.6), Heart (7.0), and Placenta (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DLG1 Gene



Protein tissue co-expression partners for DLG1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLG1

SOURCE GeneReport for Unigene cluster for DLG1 Gene:

Hs.292549

mRNA Expression by UniProt/SwissProt for DLG1 Gene:

Q12959-DLG1_HUMAN
Tissue specificity: Abundantly expressed in atrial myocardium (at protein level). Expressed in lung fibroblasts, cervical epithelial and B-cells (at protein level). Expressed in the brain (at protein level) (PubMed:23676497). Widely expressed, with isoforms displaying different expression profiles.

Evidence on tissue expression from TISSUES for DLG1 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Kidney(2.5)
  • Heart(2.4)
  • Muscle(2.4)
  • Skin(2)
genes like me logo Genes that share expression patterns with DLG1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLG1 Gene

Orthologs for DLG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLG1 31 30
  • 99.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DLG1 31 30
  • 95.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLG1 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DLG1 31 30
  • 91.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dlg1 17 31 30
  • 90.39 (n)
rat
(Rattus norvegicus)
Mammalia Dlg1 30
  • 88.04 (n)
oppossum
(Monodelphis domestica)
Mammalia DLG1 31
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLG1 31 30
  • 85.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLG1 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlg1 30
  • 79.57 (n)
Str.225 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7368 30
zebrafish
(Danio rerio)
Actinopterygii dlg1 31 30 30
  • 72.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000255 30
  • 55.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta dlg1 31 32 30
  • 54.22 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dlg-1 31 32
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 31
  • 53 (a)
OneToMany
Cin.5091 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5091 30
Species where no ortholog for DLG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DLG1 Gene

ENSEMBL:
Gene Tree for DLG1 (if available)
TreeFam:
Gene Tree for DLG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLG1: view image

Paralogs for DLG1 Gene

Paralogs for DLG1 Gene

(13) SIMAP similar genes for DLG1 Gene using alignment to 13 proteins:

  • DLG1_HUMAN
  • A8MUT6_HUMAN
  • B4E2H8_HUMAN
  • C9IYP1_HUMAN
  • C9J110_HUMAN
  • C9JCP6_HUMAN
  • C9JN61_HUMAN
  • C9JUA9_HUMAN
  • E7EQD7_HUMAN
  • F2Z2L0_HUMAN
  • H7C166_HUMAN
  • L8E7Z2_HUMAN
  • Q6PJH1_HUMAN
genes like me logo Genes that share paralogs with DLG1: view

Variants for DLG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLG1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1134986 - p.Arg278Gln
rs1802668 - p.Lys140Arg
rs34492126 - p.Pro899Leu

Additional dbSNP identifiers (rs#s) for DLG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DLG1 Gene

Variant ID Type Subtype PubMed ID
dgv2691n106 CNV deletion 24896259
dgv5037n100 CNV loss 25217958
dgv5038n100 CNV gain 25217958
dgv5039n100 CNV gain 25217958
dgv635n27 CNV gain 19166990
dgv8858n54 CNV loss 21841781
dgv8859n54 CNV loss 21841781
dgv8860n54 CNV loss 21841781
dgv8861n54 CNV loss 21841781
dgv8862n54 CNV loss 21841781
dgv911e199 CNV deletion 23128226
esv2425210 CNV deletion 19546169
esv2580756 CNV deletion 19546169
esv2676138 CNV deletion 23128226
esv2759214 CNV gain+loss 17122850
esv28260 CNV gain+loss 19812545
esv3563189 CNV deletion 23714750
esv3569228 CNV loss 25503493
esv3599293 CNV gain 21293372
esv3599302 CNV loss 21293372
esv3599303 CNV loss 21293372
esv3599304 CNV gain 21293372
esv3893852 CNV gain 25118596
nsv1014160 CNV loss 25217958
nsv10393 CNV gain 18304495
nsv1072878 CNV deletion 25765185
nsv4186 CNV deletion 18451855
nsv428431 CNV gain+loss 18775914
nsv461132 CNV loss 19166990
nsv461133 CNV loss 19166990
nsv471149 CNV gain 18288195
nsv516873 CNV gain+loss 19592680
nsv593114 CNV loss 21841781
nsv593115 CNV loss 21841781
nsv593116 CNV gain 21841781
nsv593117 CNV loss 21841781
nsv593118 CNV loss 21841781
nsv593145 CNV loss 21841781
nsv818205 CNV gain 17921354
nsv819059 CNV gain 19587683
nsv821583 CNV deletion 20802225
nsv822423 CNV loss 20364138
nsv829830 CNV gain 17160897
nsv956256 CNV deletion 24416366

Variation tolerance for DLG1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLG1 Gene

Human Gene Mutation Database (HGMD)
DLG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG1 Gene

Disorders for DLG1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DLG1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cleft lip/palate
  • alveolar cleft lip and palate
depression
  • major depressive disorder
mayer-rokitansky-kuster-hauser syndrome
  • mrkh syndrome
brugada syndrome 9
  • brgda9
chromosome 3q29 deletion syndrome
  • microdeletion 3q29 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DLG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DLG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DLG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLG1 Gene

Publications for DLG1 Gene

  1. Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. (PMID: 19213956) El-Haou S … Hatem SN (Circulation research 2009) 3 4 23 54
  2. An association analysis of synapse-associated protein 97 (SAP97) gene in schizophrenia. (PMID: 18665322) Sato J … Nishikawa T (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 23 41 54
  3. Direct binding of the human homologue of the Drosophila disc large tumor suppressor gene to seven-pass transmembrane proteins, tumor endothelial marker 5 (TEM5), and a novel TEM5-like protein. (PMID: 15021905) Yamamoto Y … Takai Y (Oncogene 2004) 3 4 23 54
  4. Human homolog of disc-large is required for adherens junction assembly and differentiation of human intestinal epithelial cells. (PMID: 14699157) Laprise P … Rivard N (The Journal of biological chemistry 2004) 3 4 23 54
  5. Protein 4.1-mediated membrane targeting of human discs large in epithelial cells. (PMID: 12807908) Hanada T … Chishti AH (The Journal of biological chemistry 2003) 3 4 23 54

Products for DLG1 Gene

Sources for DLG1 Gene