About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
Dlg4 Gene Detail
Summary
  • Symbol
    Dlg4
  • Name
    discs, large homolog 4 (Drosophila)
  • Synonyms
    Dlgh4, PSD95, PSD-95, SAP90, SAP90A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277959
    NCBI Gene: 13385
  • Gene Overview
    MyGene.info: DLG4
Location & Maps
more
  • Sequence Map
    Chr11:70017085-70045532 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      28448 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 42.96 cM, cytoband B4
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    DLG4, discs large MAGUK scaffold protein 4
  • Vertebrate Orthologs
    8
  • Human Ortholog
    DLG4, discs large MAGUK scaffold protein 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PSD95, SAP90, SAP-90
  • Links
    NCBI Gene ID: 1742
    neXtProt AC: NX_P78352

  • Chr Location
    17p13.1; chr17:7189890-7220050 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with Dlg4 mouse models

Human Disease Mouse Models
       Autism   OMIM: 209850 View 1 model
Williams-Beuren Syndrome; WBS   OMIM: 194050 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    48 phenotypes from 6 alleles in 6 genetic backgrounds
    3 phenotypes from multigenic genotypes
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    10
  • Genomic Mutations
    2 involving Dlg4
  • Incidental Mutations
    Mutagenetix , APF
Homozygotes for a targeted null mutation exhibit severely impaired spatial learning, alterations in long-term potentiation and depression, and lack of hyperalgesia responses in a neuropathic pain model.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    123
  • GO References
    78
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    167
  • Tissues
    47
  • cDNA Data
    9
  • Literature Summary
    68
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006024 VEGA Gene Model | MGI Sequence Detail 28448 C57BL/6J ±  kb
transcript OTTMUST00000013521 VEGA | MGI Sequence Detail 3271 Not Applicable  
polypeptide OTTMUSP00000006268 VEGA | MGI Sequence Detail 767 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    216 from dbSNP Build 142
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000006514 disks large homolog 4
  • InterPro Domains
    IPR016313 Disks large 1
    IPR019590 Disks large homologue 1, N-terminal PEST domain
    IPR020590 Guanylate kinase, conserved site
    IPR008144 Guanylate kinase-like domain
    IPR008145 Guanylate kinase/L-type calcium channel beta subunit
    IPR019583 PDZ-associated domain of NMDA receptors
    IPR001478 PDZ domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR001452 SH3 domain
Molecular
Reagents
less
  • All nucleic 10
    cDNA 10

    Microarray probesets 5
References
more
  • Summaries
    All 218
    Developmental Gene Expression 68
    Diseases 1
    Gene Ontology 78
    Phenotypes 40
  • Earliest
    J:48918 Stathakis DG, et al., Human postsynaptic density-95 (PSD95): location of the gene (DLG4) and possible function in nonneural as well as in neural tissues. Genomics. 1997 Aug 15;44(1):71-82
  • Latest
    J:234203 Patriarchi T, et al., Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice. Eur J Hum Genet. 2016 Jun;24(6):871-80
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
09/13/2016
MGI 6.05 		The Jackson Laboratory