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 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; chr18:29078027-29128814 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human DSG2

Alleles and phenotypes

All alleles(11) : Targeted(3) Gene trapped(8)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (17 annotations)

Process	apoptotic process, bundle of His cell to Purkinje myocyte communication, ...
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, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	341
RT-PCR	13

cDNA source data(15)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(19) cDNA(17) Primer pair(2)
Microarray probesets(9)

Other database links

VEGA Gene Model	OTTMUSG00000030073 (Evidence)
Ensembl Gene Model	ENSMUSG00000044393 (Evidence)
Entrez Gene	13511 (Evidence)
NIA Mouse Gene Index	U018462
Consensus CDS Project	CCDS29084.1
International Mouse Knockout Project Status	Dsg2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030073	VEGA Gene Model | MGI Sequence Detail	46448	C57BL/6J
transcript	OTTMUST00000074515	VEGA | MGI Sequence Detail	5766	Not Applicable
polypeptide	OTTMUSP00000038847	VEGA | MGI Sequence Detail	1122	Not Applicable

All sequences(35) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(182 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002126	Cadherin
InterPro	IPR020894	Cadherin conserved site
InterPro	IPR000233	Cadherin, cytoplasmic domain
InterPro	IPR015919	Cadherin-like
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