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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20569232-20604878 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.35 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    181 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2661061
 protein coding gene Chr18:20569232-20606191 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024178
 protein coding gene Chr18:17993732-18030359 (+)
A/J MGP_AJ_G0024142
 protein coding gene Chr18:17558300-17594296 (+)
AKR/J MGP_AKRJ_G0024111
 protein coding gene Chr18:18080060-18115676 (+)
BALB/cJ MGP_BALBcJ_G0024142
 protein coding gene Chr18:17572385-17608147 (+)
C3H/HeJ MGP_C3HHeJ_G0023910
 protein coding gene Chr18:18016875-18052423 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024585
 protein coding gene Chr18:18866059-18907471 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022027
 protein coding gene Chr18:16673287-16708801 (+)
CAST/EiJ MGP_CASTEiJ_G0023384
 protein coding gene Chr18:17803474-17841322 (+)
CBA/J MGP_CBAJ_G0023878
 protein coding gene Chr18:19344774-19380426 (+)
DBA/2J MGP_DBA2J_G0024010
 protein coding gene Chr18:17267851-17303945 (+)
FVB/NJ MGP_FVBNJ_G0023976
 protein coding gene Chr18:17049659-17085504 (+)
LP/J MGP_LPJ_G0024092
 protein coding gene Chr18:18143800-18185374 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024004
 protein coding gene Chr18:20252336-20293909 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024632
 protein coding gene Chr18:17811789-17848174 (+)
PWK/PhJ MGP_PWKPhJ_G0023129
 protein coding gene Chr18:17366323-17402798 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022938
 protein coding gene Chr18:18066591-18102393 (+)
WSB/EiJ MGP_WSBEiJ_G0023449
 protein coding gene Chr18:17762534-17801394 (+)



Homology
more
  • Human Ortholog
    DSG4, desmoglein 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSG4, desmoglein 4
  • Synonyms
    CDGF13, CDHF13, HYPT6, LAH
  • Links
    NCBI Gene ID: 147409
    neXtProt AC: NX_Q86SJ6
    UniProt: Q86SJ6

  • Chr Location
    18q12.1; chr18:31376777-31414912 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Dsg4 mouse models; 2 with human DSG4 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
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
less
  • 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
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.
Mice carrying mutations at this locus exhibit abnormalities in hair growth, vibrissae growth, and a thickened epidermis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    12
  • GO References
    6
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
non-membrane-bounded 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
    721
  • Tissues
    14
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001804 Ensembl Gene Model | MGI Sequence Detail 35647 C57BL/6J ±  kb
    transcript ENSMUST00000019426 Ensembl | MGI Sequence Detail 3478 Not Applicable  
    polypeptide ENSMUSP00000019426 Ensembl | MGI Sequence Detail 1041 Not Applicable  
    For the selected sequence
    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 5
      Diseases 3
      Gene Ontology 6
      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:320249 Godsel LM, et al., Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor. J Clin Invest. 2022 Feb 1;132(3):e144363
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory