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Aliases for DLG3 Gene

Aliases for DLG3 Gene

  • Discs Large MAGUK Scaffold Protein 3 2 3 5
  • Neuroendocrine-Dlg 2 3 4
  • Protein Phosphatase 1, Regulatory Subunit 82 2 3
  • Synapse-Associated Protein 102 3 4
  • SAP102 3 4
  • XLMR 3 4
  • Discs, Large Homolog 3 (Neuroendocrine-Dlg, Drosophila) 2
  • Discs, Large Homolog 3 (Drosophila) 2
  • Discs, Large Homolog 3 3
  • Discs Large Homolog 3 2
  • Disks Large Homolog 3 3
  • KIAA1232 4
  • PPP1R82 3
  • SAP-102 4
  • MRX90 3
  • NEDLG 3
  • MRX 3

External Ids for DLG3 Gene

Previous GeneCards Identifiers for DLG3 Gene

  • GC0XP065842
  • GC0XP067142
  • GC0XP067897
  • GC0XP068531
  • GC0XP069447
  • GC0XP069581
  • GC0XP069664
  • GC0XP063486

Summaries for DLG3 Gene

Entrez Gene Summary for DLG3 Gene

  • This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]

GeneCards Summary for DLG3 Gene

DLG3 (Discs Large MAGUK Scaffold Protein 3) is a Protein Coding gene. Diseases associated with DLG3 include Non-Syndromic X-Linked Intellectual Disability and Non-Syndromic Intellectual Disability. Among its related pathways are Protein-protein interactions at synapses and L1CAM interactions. GO annotations related to this gene include ubiquitin protein ligase binding and protein C-terminus binding. An important paralog of this gene is DLG2.

UniProtKB/Swiss-Prot for DLG3 Gene

  • Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Gene Wiki entry for DLG3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DLG3 Gene

Genomics for DLG3 Gene

Regulatory Elements for DLG3 Gene

Enhancers for DLG3 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
GH0XG070475 1.1 Ensembl ENCODE 19.3 +34.4 34446 6.8 ZFP64 INSM2 KLF17 GLIS2 ZNF366 ZSCAN5C SCRT2 FOS EGR2 SP3 DLG3 DLG3-AS1 RNU4-81P GDPD2 ENSG00000230187
GH0XG070433 1.7 FANTOM5 Ensembl ENCODE 6.3 -10.2 -10224 2.9 ATF1 ARID4B SIN3A BRCA1 ZNF2 ETS1 GLIS2 GATA2 ZNF143 KLF7 ARR3 DLG3 KIF4A LOC105373244 GDPD2
GH0XG070525 0.8 ENCODE 12.7 +80.9 80899 0.9 SOX13 ESRRA FOXA2 RAD21 THRB RARA CTBP1 GATA3 FOSL2 FOS DLG3-AS1 RNU4-81P DLG3 ENSG00000230187
GH0XG070451 0.8 ENCODE 6.4 +7.9 7909 2.1 CTCF RAD21 E2F1 POLR2A EED PATZ1 SMC3 IKZF2 ZBTB20 EGR2 DLG3 DLG3-AS1 RNU4-81P
GH0XG070591 0.6 ENCODE 4.3 +147.3 147340 0.9 STAT1 JUND JUN STAT3 CEBPB FOS EP300 DLG3 ENSG00000230187 DLG3-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DLG3 on UCSC Golden Path with GeneCards custom track

Genomic Location for DLG3 Gene

Chromosome:
X
Start:
70,444,850 bp from pter
End:
70,505,490 bp from pter
Size:
60,641 bases
Orientation:
Plus strand

Genomic View for DLG3 Gene

Genes around DLG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLG3 Gene

Proteins for DLG3 Gene

  • Protein details for DLG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92796-DLG3_HUMAN
    Recommended name:
    Disks large homolog 3
    Protein Accession:
    Q92796
    Secondary Accessions:
    • B4E0H1
    • D3DVU5
    • Q5JUW6
    • Q5JUW7
    • Q9ULI8

    Protein attributes for DLG3 Gene

    Size:
    817 amino acids
    Molecular mass:
    90314 Da
    Quaternary structure:
    • Interacts through its PDZ domains with NETO1, GRIN2B and SYNGAP1. Interacts through its guanylate kinase-like domain with DLGAP1, DLGAP2, DLGAP3 and DLGAP4. Interacts with FLTP/C1orf192 (By similarity). Interacts through its PDZ domains with APC. Interacts through its first two PDZ domains with ERBB4. Interacts through its third PDZ domain with NLGN1, and probably with NLGN2 and NLGN3. Interacts with FRMPD4 (via C-terminus). Interacts with LRFN1, LRFN2 and LRFN4.
    SequenceCaution:
    • Sequence=BAA86546.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DLG3 Gene

    Alternative splice isoforms for DLG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLG3 Gene

Post-translational modifications for DLG3 Gene

  • Ubiquitination at isoforms=6
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DLG3 (DLG3)

No data available for DME Specific Peptides for DLG3 Gene

Domains & Families for DLG3 Gene

Graphical View of Domain Structure for InterPro Entry

Q92796

UniProtKB/Swiss-Prot:

DLG3_HUMAN :
  • Belongs to the MAGUK family.
Family:
  • Belongs to the MAGUK family.
genes like me logo Genes that share domains with DLG3: view

Function for DLG3 Gene

Molecular function for DLG3 Gene

GENATLAS Biochemistry:
Drosophila tumor suppressor gene,discs large (Dlg) homolog 3,100kDa,expressed in neuronal and endocrine tissues,putative negative regulator of cell proliferation,through its interaction with APC,critical for synaptogenesis
UniProtKB/Swiss-Prot Function:
Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

Gene Ontology (GO) - Molecular Function for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity IBA --
GO:0005515 protein binding IPI 19118189
GO:0008022 protein C-terminus binding IEA --
GO:0015276 ligand-gated ion channel activity TAS --
GO:0019900 kinase binding IDA 21119615
genes like me logo Genes that share ontologies with DLG3: view
genes like me logo Genes that share phenotypes with DLG3: view

Human Phenotype Ontology for DLG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DLG3 Gene

MGI Knock Outs for DLG3:

Animal Model Products

CRISPR Products

miRNA for DLG3 Gene

miRTarBase miRNAs that target DLG3

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DLG3 Gene

Localization for DLG3 Gene

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 DLG3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with DLG3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DLG3 Gene

Pathways & Interactions for DLG3 Gene

genes like me logo Genes that share pathways with DLG3: view

Pathways by source for DLG3 Gene

Gene Ontology (GO) - Biological Process for DLG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity IEA --
GO:0007268 chemical synaptic transmission IBA --
GO:0007399 nervous system development IBA --
GO:0008285 negative regulation of cell proliferation NAS 9188857
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with DLG3: view

No data available for SIGNOR curated interactions for DLG3 Gene

Drugs & Compounds for DLG3 Gene

(3) Drugs for DLG3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DLG3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DLG3: view

Transcripts for DLG3 Gene

Unigene Clusters for DLG3 Gene

Discs, large homolog 3 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DLG3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: -
SP7:

ExUns: 24 ^ 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for DLG3 Gene

GeneLoc Exon Structure for
DLG3
ECgene alternative splicing isoforms for
DLG3

Expression for DLG3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DLG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DLG3 Gene

This gene is overexpressed in Brain (25.9), Frontal cortex (7.0), and Placenta (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DLG3 Gene



NURSA nuclear receptor signaling pathways regulating expression of DLG3 Gene:

DLG3

SOURCE GeneReport for Unigene cluster for DLG3 Gene:

Hs.721586

Evidence on tissue expression from TISSUES for DLG3 Gene

  • Nervous system(4.7)
  • Pancreas(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DLG3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DLG3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DLG3 Gene

Orthologs for DLG3 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLG3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLG3 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DLG3 34 35
  • 94.53 (n)
dog
(Canis familiaris)
Mammalia DLG3 34 35
  • 93.88 (n)
mouse
(Mus musculus)
Mammalia Dlg3 34 16 35
  • 93.06 (n)
rat
(Rattus norvegicus)
Mammalia Dlg3 34
  • 92.7 (n)
oppossum
(Monodelphis domestica)
Mammalia DLG3 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves DLG3 34 35
  • 81.68 (n)
lizard
(Anolis carolinensis)
Reptilia DLG3 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.15371 34
zebrafish
(Danio rerio)
Actinopterygii dlg3 35 35
  • 84 (a)
OneToMany
LOC100334525 34
  • 78.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta dlg1 36 35
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea dlg-1 36 35
  • 45 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5033 35
  • 51 (a)
OneToMany
Species where no ortholog for DLG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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 DLG3 Gene

ENSEMBL:
Gene Tree for DLG3 (if available)
TreeFam:
Gene Tree for DLG3 (if available)

Paralogs for DLG3 Gene

Paralogs for DLG3 Gene

(15) SIMAP similar genes for DLG3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DLG3: view

Variants for DLG3 Gene

Sequence variations from dbSNP and Humsavar for DLG3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036591 A colorectal cancer sample
rs398122846 Pathogenic 70,451,973(+) CCCCC(-/C)ACCCG upstream-variant-2KB, reference, frameshift-variant
rs398122847 Pathogenic 70,454,284(+) CCAGT(C/G)AGTCA intron-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs587777359 Pathogenic 70,445,559(+) AGCAG(C/G)TATGG splice-donor-variant
rs587777360 Pathogenic 70,450,784(+) CAGCA(C/G)TACGT upstream-variant-2KB, splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for DLG3 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv33082 CNV loss 17666407
esv3574037 CNV loss 25503493

Variation tolerance for DLG3 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DLG3 Gene

Human Gene Mutation Database (HGMD)
DLG3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DLG3 Gene

Disorders for DLG3 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DLG3 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
non-syndromic x-linked intellectual disability
  • non-specific x-linked mental retardation
non-syndromic intellectual disability
partington syndrome
  • partington x-linked mental retardation syndrome
skin tag
  • cutaneous tag
renpenning syndrome
  • renpenning syndrome 1
- elite association - COSMIC cancer census association via MalaCards
Search DLG3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DLG3_HUMAN
  • Mental retardation, X-linked 90 (MRX90) [MIM:300850]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:15185169}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DLG3

Genetic Association Database (GAD)
DLG3
Human Genome Epidemiology (HuGE) Navigator
DLG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DLG3
genes like me logo Genes that share disorders with DLG3: view

No data available for Genatlas for DLG3 Gene

Publications for DLG3 Gene

  1. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. (PMID: 15185169) Tarpey P. … Raymond F.L. (Am. J. Hum. Genet. 2004) 3 4 22 64
  2. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. (PMID: 19795139) Zanni G. … Chelly J. (Neurogenetics 2010) 3 22 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) GratacA^s M. … Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 46 64
  5. DLG3/SAP102 protein expression in malformations of cortical development: a study of human epileptic cortex by tissue microarray. (PMID: 19167192) Qu M. … Smits A. (Epilepsy Res. 2009) 3 22 64

Products for DLG3 Gene

  • Addgene plasmids for DLG3

Sources for DLG3 Gene

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