Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Dsc2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Dsc2
  • is located in the following cellular components:
    • cell-cell adherens junction ^[2]
    • desmosome ^{[1, 2]}

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Dsc2:
  • participates in the following biological processes:
    • bundle of His cell to Purkinje myocyte communication
    • regulation of heart rate by cardiac conduction
    • regulation of ventricular cardiac muscle cell action potential
  • is located in the following cellular components:
    • desmosome

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Summary text based on GO annotations supported by structural data

• Dsc2 encodes a protein or proteins that contain the following InterPro domains: Cadherin, Cadherin conserved site, Cadherin prodomain, Cadherin, cytoplasmic domain, Cadherin-like, Desmocollin, Desmosomal cadherin, indicating that the gene product:
  • participates in the following biological processes:
    • cell adhesion
    • homophilic cell adhesion
  • performs the following molecular functions:
    • calcium ion binding
  • is located in the following cellular components:
    • membrane
    • plasma membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Dsc2 indicates that it:
  • participates in the following biological processes:
    • cell adhesion
  • is located in the following cellular components:
    • cell junction
    • integral to membrane
    • membrane
    • plasma membrane

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References

1. Gallicano GI et al. (1998) Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol, 143:2009-22. (PubMed:9864371)
2. Tunggal JA et al. (2005) E-cadherin is essential for in vivo epidermal barrier function by regulating tight junctions. EMBO J, 24:1146-56. (PubMed:15775979)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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