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Aliases for DLG5 Gene

Aliases for DLG5 Gene

  • Discs Large MAGUK Scaffold Protein 5 2 3 5
  • Discs Large Protein P-Dlg 3 4
  • Placenta And Prostate DLG 3 4
  • PDLG 3 4
  • Discs, Large Homolog 5 (Drosophila) 2
  • Discs Large Protein LP-DLG 3
  • Discs, Large Homolog 5 3
  • Discs Large Homolog 5 2
  • Disks Large Homolog 5 3
  • Large Type Of P-DLG 3
  • KIAA0583 4
  • LP-DLG 3
  • P-DLG5 3

External Ids for DLG5 Gene

Previous GeneCards Identifiers for DLG5 Gene

  • GC10M078507
  • GC10M078760
  • GC10M079442
  • GC10M078895
  • GC10M079220
  • GC10M079550
  • GC10M073546

Summaries for DLG5 Gene

Entrez Gene Summary for DLG5 Gene

  • This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLG5 Gene

DLG5 (Discs Large MAGUK Scaffold Protein 5) is a Protein Coding gene. Diseases associated with DLG5 include Ileocolitis and Inflammatory Bowel Disease 5. GO annotations related to this gene include beta-catenin binding and receptor signaling complex scaffold activity. An important paralog of this gene is DLG2.

UniProtKB/Swiss-Prot for DLG5 Gene

  • May play a role at the plasma membrane in the maintenance of the structure of epithelial cells and in the transmission of extracellular signals to the membrane and cytoskeleton.

Gene Wiki entry for DLG5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG5 Gene

Genomics for DLG5 Gene

Regulatory Elements for DLG5 Gene

Enhancers for DLG5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G077835 1.9 FANTOM5 Ensembl ENCODE dbSUPER 63.7 +89.3 89306 4.5 HDGF PKNOX1 ATF1 ARNT WRNIP1 TCF12 GLIS2 ZNF143 ZNF207 JUNB DLG5 ENSG00000204049 RN7SL284P DLG5-AS1 PIR49876
GH10G077885 1.8 FANTOM5 Ensembl ENCODE dbSUPER 56.4 +37.6 37622 6.7 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A GLI4 ZNF48 YY1 FOS DLG5 DLG5-AS1 RN7SL284P ENSG00000204049 ENSG00000228748 LOC399783 POLR3A RPS24 LOC101929347 LOC100131132
GH10G077842 1.5 Ensembl ENCODE dbSUPER 58.6 +80.1 80088 7.8 HDGF FOXA2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 DLG5 ENSG00000204049 RN7SL284P DLG5-AS1 PIR49876
GH10G077871 1.7 FANTOM5 Ensembl ENCODE dbSUPER 47.6 +52.7 52705 4.4 HDGF NFIB SIN3A NFXL1 ZBTB7B ZBTB40 RARA FOS ETV6 IKZF2 DLG5 LOC100131132 LOC101929347
GH10G077876 1.6 FANTOM5 Ensembl ENCODE dbSUPER 47.6 +47.7 47657 4.0 HDAC1 HDGF PKNOX1 ETS1 ZNF121 GLIS2 ZSCAN5C ZNF623 NR2F2 GLIS1 DLG5 LOC100131132 LOC101929347
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLG5 on UCSC Golden Path with GeneCards custom track

Promoters for DLG5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000030427 90 1801 AGO1 SIN3A ZNF2 YY1 ZNF121 GLIS2 ELK1 ZNF143 KDM4B ZNF263

Genomic Location for DLG5 Gene

Chromosome:
10
Start:
77,790,787 bp from pter
End:
77,926,590 bp from pter
Size:
135,804 bases
Orientation:
Minus strand

Genomic View for DLG5 Gene

Genes around DLG5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLG5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG5 Gene

Proteins for DLG5 Gene

  • Protein details for DLG5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDM6-DLG5_HUMAN
    Recommended name:
    Disks large homolog 5
    Protein Accession:
    Q8TDM6
    Secondary Accessions:
    • A6H8Y3
    • Q149N1
    • Q5T1H7
    • Q5T1H8
    • Q6DKG3
    • Q86WC0
    • Q8TDM7
    • Q9UE73
    • Q9Y4E3

    Protein attributes for DLG5 Gene

    Size:
    1919 amino acids
    Molecular mass:
    213868 Da
    Quaternary structure:
    • Interacts with MPP1. Interacts with CTNNB1 and with the third SH3 domain of SORBS3 to form a ternary complex.
    SequenceCaution:
    • Sequence=AAI17696.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA25509.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLG5 Gene

    Alternative splice isoforms for DLG5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLG5 Gene

Post-translational modifications for DLG5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DLG5 Gene

Domains & Families for DLG5 Gene

Suggested Antigen Peptide Sequences for DLG5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDM6

UniProtKB/Swiss-Prot:

DLG5_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG5: view

Function for DLG5 Gene

Molecular function for DLG5 Gene

GENATLAS Biochemistry:
Drosophila tumor suppressor gene,discs large 5,giant larvae homolog,expressed in placenta and in epithelial glands (prostate),interacting with p55 palmitoylated membrane protein and putatively involved in the maintenance of the structure of epithelial cell
UniProtKB/Swiss-Prot Function:
May play a role at the plasma membrane in the maintenance of the structure of epithelial cells and in the transmission of extracellular signals to the membrane and cytoskeleton.

Gene Ontology (GO) - Molecular Function for DLG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23624079
GO:0008013 beta-catenin binding IDA 12657639
GO:0008092 cytoskeletal protein binding IDA 12657639
GO:0030159 receptor signaling complex scaffold activity NAS 12353226
genes like me logo Genes that share ontologies with DLG5: view
genes like me logo Genes that share phenotypes with DLG5: view

Animal Models for DLG5 Gene

MGI Knock Outs for DLG5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLG5 Gene

Localization for DLG5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLG5 Gene

Cell junction. Cell membrane; Peripheral membrane protein. Note=Localized at sites of cell-cell contact.

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 DLG5 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DLG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 9738934
GO:0005886 plasma membrane TAS,IEA --
GO:0005913 cell-cell adherens junction IEA --
GO:0014069 postsynaptic density ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DLG5: view

Pathways & Interactions for DLG5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DLG5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001837 epithelial to mesenchymal transition IMP 28169360
GO:0006461 protein complex assembly IEA --
GO:0007165 signal transduction TAS 9738934
GO:0008285 negative regulation of cell proliferation TAS 9738934
GO:0016337 single organismal cell-cell adhesion NAS 12353226
genes like me logo Genes that share ontologies with DLG5: view

No data available for Pathways by source and SIGNOR curated interactions for DLG5 Gene

Drugs & Compounds for DLG5 Gene

(2) Drugs for DLG5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1342
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1856
genes like me logo Genes that share compounds with DLG5: view

Transcripts for DLG5 Gene

Unigene Clusters for DLG5 Gene

Discs, large homolog 5 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLG5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c ^
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9: - -
SP10: -
SP11:
SP12:
SP13:

ExUns: 18a · 18b ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ·
SP1: - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12: -
SP13:

Relevant External Links for DLG5 Gene

GeneLoc Exon Structure for
DLG5
ECgene alternative splicing isoforms for
DLG5

Expression for DLG5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLG5 Gene

Protein differential expression in normal tissues from HIPED for DLG5 Gene

This gene is overexpressed in Cervix (32.4), Plasma (13.3), Placenta (9.0), and Fetal Brain (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DLG5 Gene



NURSA nuclear receptor signaling pathways regulating expression of DLG5 Gene:

DLG5

SOURCE GeneReport for Unigene cluster for DLG5 Gene:

Hs.652690

mRNA Expression by UniProt/SwissProt for DLG5 Gene:

Q8TDM6-DLG5_HUMAN
Tissue specificity: Highly expressed in the placenta and prostate. Expressed at a lower level in the thyroid, spinal cord, trachea, adrenal gland, skeletal muscle, pancreas, heart, brain, liver and kidney. A short splice product shows more limited expression, being absent from at least the brain.

Evidence on tissue expression from TISSUES for DLG5 Gene

  • Nervous system(4.8)
  • Lung(3.1)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with DLG5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLG5 Gene

Orthologs for DLG5 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLG5 34 35
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia DLG5 34 35
  • 90.5 (n)
cow
(Bos Taurus)
Mammalia DLG5 34 35
  • 90.35 (n)
mouse
(Mus musculus)
Mammalia Dlg5 34 16 35
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Dlg5 34
  • 87.03 (n)
oppossum
(Monodelphis domestica)
Mammalia DLG5 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLG5 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLG5 34 35
  • 66.95 (n)
lizard
(Anolis carolinensis)
Reptilia DLG5 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlg5 34
  • 63.66 (n)
Str.5310 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12821 34
zebrafish
(Danio rerio)
Actinopterygii dlg5a 34 35
  • 64.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6509 36 35
  • 38 (a)
Species where no ortholog for DLG5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DLG5 Gene

ENSEMBL:
Gene Tree for DLG5 (if available)
TreeFam:
Gene Tree for DLG5 (if available)

Paralogs for DLG5 Gene

Paralogs for DLG5 Gene

(2) SIMAP similar genes for DLG5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DLG5: view

Variants for DLG5 Gene

Sequence variations from dbSNP and Humsavar for DLG5 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs201354863 Uncertain significance 77,821,284(+) CCTTG(C/T)GAGGG intron-variant, nc-transcript-variant, reference, missense
rs386352298 Uncertain significance 77,794,909(-) GCTCC(A/C)CCACA reference, missense
rs1000035458 -- 77,791,204(+) AATGT(C/T)AGGAA utr-variant-3-prime
rs1000060953 -- 77,798,723(+) TGGAT(C/T)GACTT intron-variant
rs1000061729 -- 77,803,950(+) AGTGG(C/T)GTGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DLG5 Gene

Variant ID Type Subtype PubMed ID
dgv1271n54 CNV gain 21841781
dgv1272n54 CNV gain 21841781
dgv929n100 CNV gain 25217958
esv2738529 CNV deletion 23290073
esv2759769 CNV gain+loss 17122850
esv27942 CNV loss 19812545
esv34062 CNV loss 18971310
esv34173 CNV loss 18971310
esv34251 CNV gain 17911159
esv3623881 CNV gain 21293372
esv3623882 CNV gain 21293372
esv3623883 CNV loss 21293372
nsv1126261 CNV deletion 24896259
nsv472395 CNV novel sequence insertion 20440878
nsv477237 CNV novel sequence insertion 20440878
nsv478446 CNV novel sequence insertion 20440878
nsv480415 CNV novel sequence insertion 20440878
nsv551555 CNV loss 21841781
nsv551557 CNV loss 21841781

Variation tolerance for DLG5 Gene

Residual Variation Intolerance Score: 6.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLG5 Gene

Human Gene Mutation Database (HGMD)
DLG5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLG5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG5 Gene

Disorders for DLG5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DLG5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ileocolitis
  • iieocolitis
inflammatory bowel disease 5
  • ibd5
inflammatory bowel disease 2
  • ibd2
crohn's disease
  • ileitis
intestinal disease
  • intestinal diseases
- elite association - COSMIC cancer census association via MalaCards
Search DLG5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DLG5

Genetic Association Database (GAD)
DLG5
Human Genome Epidemiology (HuGE) Navigator
DLG5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLG5
genes like me logo Genes that share disorders with DLG5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLG5 Gene

Publications for DLG5 Gene

  1. Identification of a novel human homolog of the Drosophila dlg, P-dlg, specifically expressed in the gland tissues and interacting with p55. (PMID: 9738934) Nakamura H. … Saya H. (FEBS Lett. 1998) 2 3 4 22 64
  2. Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. (PMID: 16344053) Vermeire S. … Rutgeerts P. (Gastroenterology 2005) 3 22 46 64
  3. Single nucleotide polymorphisms of OCTN1, OCTN2, and DLG5 genes in Greek patients with Crohn's disease. (PMID: 16437728) Gazouli M. … Anagnou N.P. (World J. Gastroenterol. 2005) 3 22 46 64
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for DLG5 Gene

  • Addgene plasmids for DLG5

Sources for DLG5 Gene

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