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Dsc2 Gene Detail
Summary
  • Symbol
    Dsc2
  • Name
    desmocollin 2
  • Synonyms
    Dsc2a, Dsc2b
  • Feature Type
    protein coding gene
  • IDs
    MGI:103221
    NCBI Gene: 13506
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:20163690-20192611 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 11.14 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    95 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103221
 protein coding gene Chr18:20163690-20192611 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024176
 protein coding gene Chr18:17526885-17557196 (-)
A/J MGP_AJ_G0024139
 protein coding gene Chr18:17048483-17077874 (-)
AKR/J MGP_AKRJ_G0024106
 protein coding gene Chr18:17586535-17618190 (-)
BALB/cJ MGP_BALBcJ_G0024138
 protein coding gene Chr18:17089220-17118101 (-)
C3H/HeJ MGP_C3HHeJ_G0023906
 protein coding gene Chr18:17505105-17534932 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024582
 protein coding gene Chr18:18351072-18380902 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022022
 protein coding gene Chr18:16235960-16264687 (-)
CAST/EiJ MGP_CASTEiJ_G0023382
 protein coding gene Chr18:17357128-17389168 (-)
CBA/J MGP_CBAJ_G0023876
 protein coding gene Chr18:18827717-18858843 (-)
DBA/2J MGP_DBA2J_G0024006
 protein coding gene Chr18:16819230-16848179 (-)
FVB/NJ MGP_FVBNJ_G0023971
 protein coding gene Chr18:16596399-16625443 (-)
LP/J MGP_LPJ_G0024089
 protein coding gene Chr18:17646530-17675667 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024000
 protein coding gene Chr18:19685908-19715818 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024629
 protein coding gene Chr18:17331001-17360531 (-)
PWK/PhJ MGP_PWKPhJ_G0023127
 protein coding gene Chr18:16907246-16936348 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022936
 protein coding gene Chr18:17609943-17638918 (-)
WSB/EiJ MGP_WSBEiJ_G0023447
 protein coding gene Chr18:17279932-17308830 (-)



Homology
more
  • Human Ortholog
    DSC2, desmocollin 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DSC2, desmocollin 2
  • Synonyms
    ARVD11, CDHF2, DG2, DGII/III, DSC3
  • Links
    NCBI Gene ID: 1824
    neXtProt AC: NX_Q02487
    UniProt: Q02487

  • Chr Location
    18q12.1; chr18:31058840-31102522 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human DSC2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    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.
Homozygous knockout increases the severity of cardiac pressure overload phenotypes (cardiac hypertrophy and fibrosis, decreased ventricular muscle contractility). Conditional homozygous KO in intestinal epithelial cells does not affect susceptibility to dextran sodium sulfate (DSS)-induced colitis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • 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
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
    982
  • Tissues
    112
  • cDNA Data
    55
  • Literature Summary
    19
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13506 NCBI Gene Model | MGI Sequence Detail 28922 C57BL/6J ±  kb
    transcript NM_001317363 RefSeq | MGI Sequence Detail 4675 Not Specified  
    polypeptide P55292 UniProt | EBI | MGI Sequence Detail 902 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 64
      cDNA 57
      Primer pair 7

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-24091, MGD-MRK-8904, MGI:2147359
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 19
      Gene Ontology 8
      Phenotypes 9
    • Earliest
      J:4712 Buxton RS, et al., Nomenclature of the desmosomal cadherins. J Cell Biol. 1993 May;121(3):481-3
    • Latest
      J:302344 Raya-Sandino A, et al., Regulation of Intestinal Epithelial Intercellular Adhesion and Barrier Function by Desmosomal Cadherin Desmocollin-2. Mol Biol Cell. 2021 Feb 17;:mbcE20120775
    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