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Protein Coding Gene : Dsc2 desmocollin 2

Primary Identifier  MGI:103221 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  13506
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable calcium ion binding activity. Acts upstream of or within cellular response to starvation. Located in adherens junction and desmosome. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 11. Orthologous to human DSC2 (desmocollin 2).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-24091,
  • MGD-MRK-8904,
  • MGI:2147359,
  • desmocollin 2,
  • Dsc2a,
  • Dsc2,
  • AW228162,
  • Dsc2b,
  • expressed sequence AW228162

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For