Dsg2 desmoglein 2 [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Dsg2provided by MGI
Official Full Name: desmoglein 2provided by MGI
Primary source: MGI:1196466
See related: Ensembl:ENSMUSG00000044393; Vega:OTTMUSG00000030073
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AA408168; D18Ertd293e

Genomic context

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Location :: 18 A2; 18 11.42 cM

Sequence :: Chromosome: 18; NC_000084.6 (20558116..20604526)

See Dsg2 in Epigenomics, MapViewer

Chromosome 18 - NC_000084.6 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In vivo interaction between Dsg2 and Na(V)1.5 provides a molecular pathway for the observed electrical disturbances during the early arrhythmogenic right ventricular cardiomyopathy.
Title: Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.
Mutant desmoglein 2 cannot support the increased requirements placed on intercalated disc adhesion during postnatal heart development. This induces cardiomyocyte death, aseptic inflammation and fibrotic replacement.
Title: Histological and ultrastructural abnormalities in murine desmoglein 2-mutant hearts.
ventricular arrhythmias that has been linked to mutations in desmosomal proteins including desmoglein 2
Title: Desmoglein 2 mutant mice develop cardiac fibrosis and dilation.
Myocyte necrosis underlies progressive myocardial dystrophy in N271S-dsg2-related arrhythmogenic right ventricular cardiomyopathy.
Title: Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy.

Submit: New GeneRIF Correction

Alleles

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Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (knock-out) (1) 1 citation

Pathways from BioSystems

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Apoptosis, organism-specific biosystem (from REACTOME)
Apoptosis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Apoptotic cleavage of cell adhesion proteins, organism-specific biosystem (from REACTOME)
Apoptotic cleavage of cell adhesion proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
Apoptotic cleavage of cellular proteins, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Apoptotic execution phase, organism-specific biosystem (from REACTOME)
Apoptotic execution phase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...

General gene information

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Markers

RH126772 (e-PCR)
- UniSTS:167233

Dsg2 (e-PCR), detects polymorphism
- UniSTS:257217

BB237469 (e-PCR)
- UniSTS:209360

AJ000328 (e-PCR)
- UniSTS:160722

RH124679 (e-PCR)
- UniSTS:161501

Homology

Homologs of the Dsg2 gene: The Dsg2 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, and zebrafish.
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
apoptotic process	ISO Inferred from Sequence Orthology more info
bundle of His cell to Purkinje myocyte communication	ISO Inferred from Sequence Orthology more info
cell adhesion	ISO Inferred from Sequence Orthology more info
execution phase of apoptosis	ISO Inferred from Sequence Orthology more info
homophilic cell adhesion	IEA Inferred from Electronic Annotation more info
regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
regulation of ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
apical plasma membrane	ISO Inferred from Sequence Orthology more info
cell junction	IEA Inferred from Electronic Annotation more info
desmosome	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
lateral plasma membrane	ISO Inferred from Sequence Orthology more info
membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desmoglein-2

Names: desmoglein-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007883.2 → NP_031909.2 desmoglein-2 precursor

Status: VALIDATED

Source sequence(s)

AB072269, AK029320, BC131653, BG092030

Consensus CDS

CCDS29084.1

UniProtKB/Swiss-Prot

O55111

Related

ENSMUSP00000057096, OTTMUSP00000038847, ENSMUST00000059787, OTTMUST00000074515

Conserved Domains (1) summary

cd11304
Location:168 – 273
Blast Score: 246

Cadherin_repeat; Cadherin tandem repeat domain.

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000084.6 Reference GRCm38.p1 C57BL/6J

Range

20558116..20604526

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000040.1

Range

21057703..21106454

Download

GenBank, FASTA, Sequence Viewer (Graphics)
NW_001036398.1

Range

1..2363, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01136957.1 (22650..34750)	None
genomic	AAHY01136958.1	None
genomic	AAHY01136959.1	None
genomic	AAHY01136960.1	None
genomic	AAHY01136961.1	None
genomic	AAHY01136962.1	None
genomic	AAHY01136963.1 (1590..10543)	None
genomic	AAHY01152986.1	None
genomic	AAHY01152987.1	None
genomic	AC132091.3 (34502..79204)	None
genomic	CH466557.1	EDK96950.1	mixed
mRNA	AB072269.1	BAB86843.1
mRNA	AJ000328.1	CAA03995.1
mRNA	AK029320.1	None	C57BL/6J
mRNA	AK076345.1	BAC36305.1	C57BL/6J
mRNA	BC020144.1	AAH20144.1
mRNA	BC034056.1	AAH34056.1
mRNA	BC044848.1	AAH44848.1	FVB/N
mRNA	BC131653.1	AAI31654.1
mRNA	BC131654.1	AAI31655.1
mRNA	BG092030.1	None	C57BL/6J