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Dlg3 Gene Detail
Summary
  • Symbol
    Dlg3
  • Name
    discs, large homolog 3 (Drosophila)
  • Synonyms
    DLG3, Dlgh3, mKIAA1232, SAP102
  • Feature Type
    protein coding gene
  • IDs
    MGI:1888986
    NCBI Gene: 53310
  • Gene Overview
    MyGene.info: DLG3
Location & Maps
more
  • Sequence Map
    ChrX:100767722-100818410 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      50689 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 43.72 cM, cytoband C2
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    DLG3, discs large MAGUK scaffold protein 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DLG3, discs large MAGUK scaffold protein 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRX, MRX90, NEDLG, PPP1R82, SAP102, XLMR
  • Links
    NCBI Gene ID: 1741
    neXtProt AC: NX_Q92796

  • Chr Location
    Xq13.1; chrX:70444850-70505490 (+)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human DLG3 associations

Human Disease Mouse Models
       Mental Retardation, X-Linked 90; MRX90   OMIM: 300850
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    3 images
    18 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
    31
  • Gene trapped
    26
  • Targeted
    5
  • Incidental Mutations
    APF , CvDC
Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    40
  • GO References
    13
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
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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
    45
  • Tissues
    32
  • cDNA Data
    78
  • Literature Summary
    6
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016499 VEGA Gene Model | MGI Sequence Detail 50689 C57BL/6J ±  kb
transcript OTTMUST00000039843 VEGA | MGI Sequence Detail 4956 Not Applicable  
polypeptide OTTMUSP00000017771 VEGA | MGI Sequence Detail 849 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    84 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000006513 disks large homolog 3
  • 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
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  • All nucleic 80
    Genomic 1
    cDNA 78
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 56
    Developmental Gene Expression 6
    Gene Ontology 13
    Phenotypes 18
  • Earliest
    J:48003 Lin L, et al., cDNA sequence and chromosomal localization of mouse Dlgh3 gene adjacent to the BRCA1 tumor suppressor locus. Biochim Biophys Acta. 1998 Nov 26;1443(1-2):211-6
  • Latest
    J:225474 Fujita-Jimbo E, et al., The association of GPR85 with PSD-95-neuroligin complex and autism spectrum disorder: a molecular analysis. Mol Autism. 2015;6:17
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
09/20/2016
MGI 6.05 		The Jackson Laboratory