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Dsg2 Gene Detail
Summary
  • Symbol
    Dsg2
  • Name
    desmoglein 2
  • Synonyms
    D18Ertd293e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196466
    NCBI Gene: 13511
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20691247-20737583 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.42 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1836 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196466
 protein coding gene Chr18:20691131-20737583 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024180
 protein coding gene Chr18:18125574-18172940 (+)
A/J MGP_AJ_G0024144
 protein coding gene Chr18:17684354-17739027 (+)
AKR/J MGP_AKRJ_G0024113
 protein coding gene Chr18:18211775-18269897 (+)
BALB/cJ MGP_BALBcJ_G0024144
 protein coding gene Chr18:17696151-17744689 (+)
C3H/HeJ MGP_C3HHeJ_G0023912
 protein coding gene Chr18:18141452-18191231 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024587
 protein coding gene Chr18:18999978-19048627 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022029
 protein coding gene Chr18:16796243-16847274 (+)
CAST/EiJ MGP_CASTEiJ_G0023386
 protein coding gene Chr18:17934279-17984108 (+)
CBA/J MGP_CBAJ_G0023880
 protein coding gene Chr18:19478389-19535537 (+)
DBA/2J MGP_DBA2J_G0024012
 protein coding gene Chr18:17392261-17442287 (+)
FVB/NJ MGP_FVBNJ_G0023978
 protein coding gene Chr18:17174745-17225555 (+)
LP/J MGP_LPJ_G0024094
 protein coding gene Chr18:18286274-18334857 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024006
 protein coding gene Chr18:20390220-20455786 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024634
 protein coding gene Chr18:17947839-17998045 (+)
PWK/PhJ MGP_PWKPhJ_G0023131
 protein coding gene Chr18:17493087-17542797 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022940
 protein coding gene Chr18:18191729-18242968 (+)
WSB/EiJ MGP_WSBEiJ_G0023451
 protein coding gene Chr18:17892549-17942570 (+)



Homology
more
  • Human Ortholog
    DSG2, desmoglein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSG2, desmoglein 2
  • Synonyms
    CDHF5, HDGC
  • Links
    NCBI Gene ID: 1829
    UniProt: Q14126

  • Chr Location
    18q12.1; chr18:31497624-31551351 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Dsg2 mouse models; 4 with human DSG2 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 9 alleles in 9 genetic backgrounds
    7 phenotypes from multigenic genotypes
    35 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.
Homozygous mutation of this gene results in embryonic lethality before somite formation, impaired cell proliferation, and increased apoptosis. Heterozygous mutation of this gene also results in embryonic lethality before somite formation with partial penetrance. Conditional homozygous KO in intestinal epithelial cells increases susceptibility to dextran sodium sulfate (DSS)-induced colitis. Homozygosity for the p.W56A mutation affects cell-cell adhesion, leading to hypertrophic cardiomyopathy, arrhythmia and partial embryonic lethality.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    8
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1153
  • Tissues
    162
  • cDNA Data
    16
  • Literature Summary
    26
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13511 NCBI Gene Model | MGI Sequence Detail 46337 C57BL/6J ±  kb
    transcript NM_007883 RefSeq | MGI Sequence Detail 5655 C57BL/6  
    polypeptide O55111 UniProt | EBI | MGI Sequence Detail 1122 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 18
      Primer pair 2

      Microarray probesets 9
    Other
    Accession IDs
    less
    MGI:1098574, MGI:2147165
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 26
      Diseases 2
      Gene Ontology 8
      Phenotypes 35
    • Earliest
      J:64280 Ruiz P, et al., Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol. 1996 Oct;135(1):215-25
    • Latest
      J:359825 Xu T, et al., The role of desmoglein-2 in kidney disease. Kidney Int. 2024 May;105(5):1035-1048
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    03/25/2025
    MGI 6.24     		The Jackson Laboratory