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Dsg2
Gene Detail
 Symbol
Name
ID
Dsg2
desmoglein 2
MGI:1196466
Synonyms D18Ertd293e
Feature Type protein coding gene
Genetic Map
Chromosome 18
11.42 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr18:20558074-20604521 bp, + strand
From VEGA annotation of GRCm38

  46448 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1464  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 4 zebrafish

Gene Tree: Dsg2

Human
homologs
Human Homolog DSG2, desmoglein 2
NCBI Gene ID 1829
neXtProt AC  NX_Q14126
Human Synonyms  ARVC10, ARVD10, CDHF5, CMD1BB, HDGC
Human Chr (Location)  18q12.1; chr18:31498064-31548851 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human DSG2
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(8) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Dsg2 interacts with 323 markers (Mir7-2, Mir7b, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process bundle of His cell to Purkinje myocyte communication, cell adhesion, ...
Component apical plasma membrane, cell junction, ...
Function calcium ion binding, metal ion binding
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (356)    Tissues (107)    Images (34)
Theiler Stages: 10, 12, 15, 18, 21, 23, 25, 27, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 341
RT-PCR 13
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(9)
Other database
links
VEGA Gene ModelOTTMUSG00000030073 (Evidence)
Ensembl Gene ModelENSMUSG00000044393 (Evidence)
Entrez Gene13511 (Evidence)
NIA Mouse Gene IndexU018462
Consensus CDS ProjectCCDS29084.1
International Mouse Knockout Project StatusDsg2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030073 VEGA Gene Model | MGI Sequence Detail 46448 C57BL/6J ±  kb
transcript OTTMUST00000074515 VEGA | MGI Sequence Detail 5766 Not Applicable 
polypeptide OTTMUSP00000038847 VEGA | MGI Sequence Detail 1122 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(2) UniProt(3)
Polymorphisms SNPs within 2kb(430 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002126 Cadherin
InterPro IPR020894 Cadherin conserved site
InterPro IPR000233 Cadherin, cytoplasmic domain
InterPro IPR015919 Cadherin-like
InterPro IPR027397 Catenin binding domain
InterPro IPR009123 Desmoglein
InterPro IPR009122 Desmosomal cadherin
Protein Ontology PR:000006707 desmoglein-2
References (Earliest) J:64280 Ruiz P, et al., Targeted mutation of plakoglobin in mice reveals essential functions of desmosomes in the embryonic heart. J Cell Biol. 1996 Oct;135(1):215-25
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(56)
Other
accession IDs
MGI:1098574, MGI:2147165

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory