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Dlg4 Gene Detail
Summary
  • Symbol
    Dlg4
  • Name
    discs large MAGUK scaffold protein 4
  • Synonyms
    Dlgh4, PSD95, PSD-95, SAP90, SAP90A
  • Feature Type
    protein coding gene
  • IDs
    MGI:1277959
    NCBI Gene: 13385
  • Gene Overview
    MyGene.info: DLG4
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:70017203-70045535 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 42.96 cM, cytoband B4
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    216 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1277959
 protein coding gene Chr11:70016942-70047522 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018579
 protein coding gene Chr11:70516623-70546535 (+)
A/J MGP_AJ_G0018547
 protein coding gene Chr11:67842022-67871277 (+)
AKR/J MGP_AKRJ_G0018516
 protein coding gene Chr11:69863205-69893269 (+)
BALB/cJ MGP_BALBcJ_G0018519
 protein coding gene Chr11:68171127-68200295 (+)
C3H/HeJ MGP_C3HHeJ_G0018332
 protein coding gene Chr11:69903121-69932125 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018970
 protein coding gene Chr11:72633630-72663909 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016615
 protein coding gene Chr11:64766308-64794385 (+)
CAST/EiJ MGP_CASTEiJ_G0017887
 protein coding gene Chr11:70146251-70181530 (+)
CBA/J MGP_CBAJ_G0018304
 protein coding gene Chr11:75896147-75930123 (+)
DBA/2J MGP_DBA2J_G0018414
 protein coding gene Chr11:67426341-67454961 (+)
FVB/NJ MGP_FVBNJ_G0018404
 protein coding gene Chr11:67073600-67102590 (+)
LP/J MGP_LPJ_G0018484
 protein coding gene Chr11:71093006-71126545 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018427
 protein coding gene Chr11:76487198-76516218 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019012
 protein coding gene Chr11:70138305-70167617 (+)
PWK/PhJ MGP_PWKPhJ_G0017661
 protein coding gene Chr11:68079336-68109075 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017451
 protein coding gene Chr11:69952846-69980892 (+)
WSB/EiJ MGP_WSBEiJ_G0017941
 protein coding gene Chr11:69802290-69833505 (+)



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
    UniProt: P78352

  • Chr Location
    17p13.1; chr17:7189890-7220050 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Dlg4 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 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
    71 phenotypes from 7 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    54 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
    165
  • GO References
    90
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    189
  • Tissues
    51
  • cDNA Data
    12
  • Literature Summary
    102
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13385 NCBI Gene Model | MGI Sequence Detail 28333 C57BL/6J ±  kb
    transcript NM_007864 RefSeq | MGI Sequence Detail 3339 C57BL/6  
    polypeptide Q62108 UniProt | EBI | MGI Sequence Detail 724 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 13
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 317
      Developmental Gene Expression 102
      Diseases 1
      Gene Ontology 90
      Phenotypes 54
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:279421 Carbonell AU, et al., Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nat Commun. 2019 Aug 6;10(1):3529
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/03/2019
    MGI 6.14     		The Jackson Laboratory