Dsc2 desmocollin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dsc2provided by MGI
Official Full Name: desmocollin 2provided by MGI
Primary source: MGI:MGI:103221
See related: Ensembl:ENSMUSG00000024331 AllianceGenome:MGI:103221
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the desmocollin protein subfamily. Desmocollins are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression: Biased expression in placenta adult (RPKM 20.2), large intestine adult (RPKM 17.3) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A2; 18 11.14 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (20163690..20192611, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (20030633..20059554, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
Title: Regulation of intestinal epithelial intercellular adhesion and barrier function by desmosomal cadherin desmocollin-2.
Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
Title: Desmocollin-2 promotes intestinal mucosal repair by controlling integrin-dependent cell adhesion and migration.
these results demonstrate that Dsg2, but not desmocollin 2 is required for the integrity of the intestinal epithelial barrier in vivo
Title: Desmoglein 2, but not desmocollin 2, protects intestinal epithelia from injury.
Downregulation of DSC2 is associated with arrhythmogenic cardiomyopathy.
Title: MicroRNA-130a Regulation of Desmocollin 2 in a Novel Model of Arrhythmogenic Cardiomyopathy.
Cardiac specific overexpression of desmocollin-2 induces necrosis, acute inflammation and patchy cardiac fibrotic remodeling leading to fulminant biventricular cardiomyopathy.
Title: Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.
Data demonstrate that partner desmosomal cadherins Dsg2 and Dsc2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling.
Title: Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling.
plakoglobin (Pg) in conjunction with lymphoid enhancer-binding factor 1 (Lef-1) differentially regulates the proximal promoters of Dsc2 and Dsc3
Title: Plakoglobin as a regulator of desmocollin gene expression.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dsc2 (e-PCR), detects polymorphism
- UniSTS:142871

Dsc2 (e-PCR), detects polymorphism
- UniSTS:142872

Dsc2 (e-PCR), detects polymorphism
- UniSTS:265521

Dsc2 (e-PCR), detects polymorphism
- UniSTS:265522

Dsc2 (e-PCR), detects polymorphism
- UniSTS:265523

Dsc2 (e-PCR), detects polymorphism
- UniSTS:265524

AW228162 (e-PCR)
- UniSTS:181096

Dsc2 (e-PCR), detects polymorphism
- UniSTS:502656

L33779 (e-PCR)
- UniSTS:160723

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	IEA Inferred from Electronic Annotation more info
involved_in bundle of His cell-Purkinje myocyte adhesion involved in cell communication	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell-cardiac muscle cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to starvation	IEP Inferred from Expression Pattern more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of p38MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of heart rate by cardiac conduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate by cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in regulation of ventricular cardiac muscle cell action potential	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in adherens junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in desmosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desmocollin-2

Names: epithelial type 2 desmocollin

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_001317363.1 → NP_001304292.1 desmocollin-2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) includes an alternate exon in its 5' UTR, uses a downstream in-frame start codon, and contains an additional exon at the 3' end, compared to variant Dsc2a. The encoded isoform (3) has a shorter N-terminus and a shorter and distinct C-terminus, compared to isoform Dsc2a.

Source sequence(s)

AK028604, AK048547, BY093917, BY422831, BY425109

UniProtKB/TrEMBL

Q6PEU5

Conserved Domains (2) summary

cd11304
Location:105 → 208

Cadherin_repeat; Cadherin tandem repeat domain

pfam00028
Location:217 → 304

Cadherin; Cadherin domain
NM_001317365.1 → NP_001304294.1 desmocollin-2 isoform Dsc2a preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (Dsc2a) encodes the longest isoform (Dsc2a).

Source sequence(s)

AK048547, BY093917, BY422831, BY425109

Consensus CDS

CCDS84361.1

UniProtKB/Swiss-Prot

P55292, Q64734

UniProtKB/TrEMBL

Q6PEU5

Related

ENSMUSP00000074702.3, ENSMUST00000075214.9

Conserved Domains (4) summary

cd11304
Location:248 → 351

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:31 → 111

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:360 → 447

Cadherin; Cadherin domain

pfam01049
Location:853 → 897

Cadherin_C; Cadherin cytoplasmic region
NM_013505.4 → NP_038533.1 desmocollin-2 isoform Dsc2b preproprotein

See identical proteins and their annotated locations for NP_038533.1

Status: REVIEWED

Description

Transcript Variant: This variant (Dsc2b) contains an additional exon at the 3' end, which results in a frameshift, compared to variant Dsc2a. The encoded isoform (Dsc2b) has a shorter and distinct C-terminus compared to isoform Dsc2a.

Source sequence(s)

AK048547, BY093917, BY422831, BY425109

Consensus CDS

CCDS29077.1

UniProtKB/TrEMBL

Q544V1, Q6PEU5

Related

ENSMUSP00000042905.5, ENSMUST00000039247.11

Conserved Domains (3) summary

cd11304
Location:248 → 351

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:31 → 111

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:360 → 447

Cadherin; Cadherin domain