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Protein Coding Gene : Dsg2 desmoglein 2

Primary Identifier  MGI:1196466 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  13511
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to enable calcium ion binding activity and cell adhesion molecule binding activity. Predicted to be involved in several processes, including Purkinje myocyte development; homophilic cell adhesion via plasma membrane adhesion molecules; and regulation of heart contraction. Located in desmosome. Is expressed in several structures, including alimentary system; epithelium; genitourinary system; respiratory system; and vibrissa. Used to study arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; and intrinsic cardiomyopathy. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy; arrhythmogenic right ventricular dysplasia 10; dilated cardiomyopathy; and dilated cardiomyopathy 1BB. Orthologous to human DSG2 (desmoglein 2).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGI:2147165,
  • desmoglein 2,
  • DNA segment, Chr 18, ERATO Doi 293, expressed,
  • AA408168,
  • MGI:1098574,
  • expressed sequence AA408168,
  • D18Ertd293e,
  • Dsg2

Features --> Cross References

Genome

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0 CDSs

0 Exons

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0 Involved In Mutations

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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

15 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

 

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0 Driver For