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Dsg4 Gene Detail
Summary
  • Symbol
    Dsg4
  • Name
    desmoglein 4
  • Synonyms
    CDHF13, lah
  • Feature Type
    protein coding gene
  • IDs
    MGI:2661061
    NCBI Gene: 16769
  • Gene Overview
    MyGene.info: DSG4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr18:20436175-20471821 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      35647 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 11.35 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    DSG4, desmoglein 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    DSG4, desmoglein 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDGF13, CDHF13, HYPT6, LAH
  • Links
    NCBI Gene ID: 147409
    neXtProt AC: NX_Q86SJ6
    UniProt: Q86SJ6

  • Chr Location
    18q12.1; chr18:31376777-31415791 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 65341
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: DSG4
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Dsg4 mouse models; 1 with human DSG4 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 5 alleles in 5 genetic backgrounds
    9 phenotypes from multigenic genotypes
    9 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.
Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 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
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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
  • Tissues
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000028141 VEGA Gene Model | MGI Sequence Detail 35647 C57BL/6J ±  kb
    transcript OTTMUST00000069707 VEGA | MGI Sequence Detail 3478 Not Applicable  
    polypeptide OTTMUSP00000035447 VEGA | MGI Sequence Detail 1041 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      181 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 3
      Genomic 2
      Primer pair 1

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-16159, MGI:99398
    References
    more
    • Summaries
      All 28
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 5
      Phenotypes 9
    • Earliest
      J:33849 Montagutelli X, et al., Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol. 1996 Jul;107(1):20-5
    • Latest
      J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory