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Dsc1 Gene Detail
Summary
  • Symbol
    Dsc1
  • Name
    desmocollin 1
  • Synonyms
    1110020A10Rik, Dsc1a, Dsc1b
  • Feature Type
    protein coding gene
  • IDs
    MGI:109173
    NCBI Gene: 13505
  • Alliance
    genome feature page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20217241-20247928 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.17 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    873 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_109173
 protein coding gene Chr18:20216528-20247928 (-)
129S1/SvImJ ENSMUSG00200019604
 protein coding gene Chr18:17224930-17255636 (-)
A/J ENSMUSG00195001986
 protein coding gene Chr18:17366082-17396784 (-)
AKR/J ENSMUSG00220011687
 protein coding gene Chr18:17410737-17441431 (-)
BALB/cJ ENSMUSG00180003961
 protein coding gene Chr18:17827450-17858138 (-)
C3H/HeJ ENSMUSG00175004368
 protein coding gene Chr18:17353673-17384357 (-)
C57BL/6NJ ENSMUSG00215003469
 protein coding gene Chr18:17066301-17096980 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022023
 protein coding gene Chr18:16291433-16321483 (-)
CAST/EiJ ENSTCUG00005014760
 protein coding gene Chr18:17091752-17123285 (-)
CBA/J ENSMUSG00210020053
 protein coding gene Chr18:17379794-17410475 (-)
DBA/2J ENSMUSG00185007909
 protein coding gene Chr18:17337006-17367701 (-)
FVB/NJ ENSMUSG00205016401
 protein coding gene Chr18:17075239-17105935 (-)
JF1/MsJ ENSUMUG00000017989
 protein coding gene Chr18:17388519-17420107 (-)
LP/J ENSMUSG00230010697
 protein coding gene Chr18:19419027-19449728 (-)
NOD/ShiLtJ ENSMUSG00190016465
 protein coding gene Chr18:17152044-17182728 (-)
NZO/HlLtJ ENSMUSG00225027978
 protein coding gene Chr18:19341993-19372684 (-)
PWK/PhJ ENSLUMG00010015440
 protein coding gene Chr18:17566629-17598308 (-)
SPRET/EiJ ENSMSPG00010004787
 protein coding gene Chr18:17482031-17512034 (-)
WSB/EiJ ENSIUOG00005018632
 protein coding gene Chr18:17241419-17272119 (-)



Homology
more
  • Human Ortholog
    DSC1, desmocollin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSC1, desmocollin 1
  • Synonyms
    CDHF1, DG2/DG3
  • Links
    NCBI Gene ID: 1823
    UniProt: Q08554

  • Chr Location
    18q12.1; chr18:31129236-31162856 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    27 phenotypes from 2 alleles in 2 genetic backgrounds
    5 images
    8 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.
Mutants with targeted disruptions of this gene have fragile epidermis, flaky skin, and defects in the epidermal barrier, leading to chronic dermatitis and display abnormal epidermal differentiation as indicated by hyperproliferation and overxpression of keratin 6 and 16.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    10
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
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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
    639
  • Tissues
    29
  • cDNA Data
    17
  • Literature Summary
    14
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000044322 Ensembl Gene Model | MGI Sequence Detail 30688 C57BL/6J ±  kb
    transcript ENSMUST00000224432 Ensembl | MGI Sequence Detail 4085 Not Applicable  
    polypeptide ENSMUSP00000153639 Ensembl | MGI Sequence Detail 886 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 18
      Primer pair 1
      Antibodies 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-38217, MGI:1915898, MGI:2147239
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 14
      Gene Ontology 10
      Phenotypes 8
    • Earliest
      J:35511 King IA, et al., Expression of the skin-type desmosomal cadherin DSC1 is closely linked to the keratinization of epithelial tissues during mouse development. J Invest Dermatol. 1996 Oct;107(4):531-8
    • 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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory