DSC2 Gene

Aliases
for DSC2 gene

Previous GC identifers: GC18M028466 GC18M026899 GC18M026897 GC18M026900 GC18M025501

Summaries
for DSC2 gene

Genomic Views
for DSC2 gene

RefSeq DNA sequence:

NC_000018.9  NC_018929.1  NT_010966.14  

SwitchGear Promoter luciferase reporter plasmid: DSC2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSC2

DSC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M028670:  view genomic region     (about GC identifiers)

Proteins
for DSC2 gene

Explore the universe of human proteins at neXtProt for DSC2: NX_Q02487

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for DSC2 (Desmocollin-2)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: DSC2 OriGene Custom Protein Services for DSC2
	GenScript Custom Purified and Recombinant Proteins Services for DSC2
	Novus Biologicals DSC2 Proteins Novus Biologicals DSC2 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DSC2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for DSC2 (Desmocollin-2)
	OriGene Antibodies: DSC2 OriGene Custom Antibody Services for DSC2
	GenScript Custom Superior Antibodies Services for DSC2
	Novus Biologicals DSC2 Antibodies
	Abcam antibodies for DSC2
	Uscn Antibodies for DSC2
	ThermoFisher Antibodies for DSC2

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DSC2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DSC2

Protein Domains /
Families
for DSC2 gene

ProtoNet protein and cluster: Q02487

Function
for DSC2 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): DSC2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DSC2
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate DSC2 (see all 18):
		hsa-miR-3607-3p hsa-miR-148b hsa-miR-29a hsa-miR-29c hsa-miR-25 hsa-miR-548c-3p hsa-miR-92b hsa-miR-148a
		SwitchGear 3'UTR luciferase reporter plasmid: DSC2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DSC2 (see all 7) OriGene shRNA RFP: DSC2 OriGene siRNA: DSC2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DSC2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for DSC2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSC2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSC2 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): DSC2 (NM_024422)
		Sino Biological Human cDNA Clone for DSC2
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSC2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSC2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DSC2
		Search LifeMap BioReagents cell lines for DSC2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

Pathways & Interactions
for DSC2 gene

	Super-pathway	contained gene-specific pathways
1	Arrhythmogenic right ventricular cardiomyopathy (ARVC)	Arrhythmogenic right ventricular cardiomyopathy (ARVC) 1.00 Arrhythmogenic right ventricular cardiomyopathy 0.99

1 BioSystems Pathway for DSC2

Arrhythmogenic right ventricular cardiomyopathy

1         Kegg Pathway  (Kegg details for DSC2)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

Drugs & Compounds
for DSC2 gene

Transcripts
for DSC2 gene

Expression
for DSC2 gene

DSC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGAGTCATAC

4 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic Angioblasts			Endothelium
	EyeInner Nuclear LayerType1 Off Cone Bipolar Cells			Bipolar, Retina
	KidneyRenal Collecting Duct System			Kidney
	LungLung Bud			Lung
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	Posterior foregut-like cells (A scalable, suspensi...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSC2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DSC2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSC2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSC2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSC2

Orthologs
for DSC2 gene

Paralogs
for DSC2 gene

Paralogs for DSC2 gene

CDH4²  CDH18²  DSG4²  CDH3²  CDH10²  CDH11²  CDH1²  CDH6²  

CDH8²  CDH20²  CDH22²  DSC1²  CDH19²  DSG1²  CDH7²  DSG2²  

CDH9²  CDH12²  CDH26²  DSC3²  CDH2²  CDH24²  CDH15²  CDH5²  

DSG3²  

18/29 SIMAP similar genes for DSC2 using alignment to 4 protein entries:     DSC2_HUMAN (see all proteins) (see all similar genes):

DKFZp686I11137    DKFZp686P18250    DSC3    DSC1    CDH3    CDH26

Nbla04261    CDH1    CDH16    CDH13    CDH2    CDH5

CELSR1    DCHS2    DSG2    PCDH11Y    CDH6    PCDH15

DSC2 for paralogs           About GeneDecksing

Genomic Variants
for DSC2 gene

10/658 NCBI SNPs in DSC2 are shown (see all 658)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1442421141,2	C,F,	probable-non-pathogenic	57285516(+)	GCTGAT/CCTTGG	4	/R	syn1		2		NA EU	5873
rs617319211,2	C,F,	probable-non-pathogenic	57296769(+)	CCCCCC/TGGCAG	4	Q R	mis1		4		NS NA EU	6011
rs1939227081,2	C,	probable-pathogenic	57279117(-)	ACACAC/TGCCTG	4	R C	mis1		1		EU	1323
rs1510240191,2	C,F,	probable-pathogenic	57294996(+)	GGCTAA/CATCAT	4	V L	mis1		2		NA EU	5873
rs1113478881,2	C	unknown	57279239(+)	TTTTAT/ATGTTT	2	--	int1		1		CSA	2
rs799901111,2	C,F,	--	25501525(+)	TTTTCA/GTAGGG	2	--	ds5001		1		WA	118
rs739525901,2	C,	--	25501778(+)	TAACAC/TGAAAT	2	--	ds5001		1		WA	2
rs285307231,2		--	25502602(+)	AATAAC/TTTTAC	2	--	ut31		0	--	--	--	--
rs747495191,2	C,F,	--	25502743(+)	GCATTA/GCAGAA	2	--	ut31		1		WA	118
rs16132461,2	H	--	25503055(-)	CTAAAG/AAATCC	2	--	ut31 ese3		4		NS EA	420

HapMap Linkage Disequilibrium report for DSC2 (28645940 - 28682388 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DSC2: --
Human Gene Mutation Database (HGMD): DSC2

Locus Specific Mutation Databases (LSDB): DSC2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSC2

DNA2.0 Custom Variant and Variant Library Synthesis for DSC2

Disorders / Diseases
for DSC2 gene

20/33 diseases for DSC2

4 Novoseek disease relationships for DSC2 gene    About this table

Publications
for DSC2 gene

PubMed articles for DSC2 gene, integrated from 9 sources (see all 84): (articles sorted by number of sources associating them with DSC2)

Utopia: connect your pdf to the dynamic world of online information

1. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. (PubMed id 18678517)^{1, 2, 9} Posch M.G....Ozcelik C. (2008)
2. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. (PubMed id 17033975)^{1, 2, 9} Syrris P.... McKenna W.J. (2006)
3. Mechanistic insights into arrhythmogenic right ventri cular cardiomyopathy caused by desmocollin-2 mutations. (PubMed id 21062920)^{1, 2} Gehmlich K....McKenna W.J. (2011)
4. Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2} Barahona-Dussault C....Brugada R. (2010)
5. Comprehensive desmosome mutation analysis in north am ericans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 20031617)^{1, 2} den Haan A.D....Judge D.P. (2009)
6. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)^{1, 2} Ramachandran P....Loo J.A. (2006)
7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
9. Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12. (PubMed id 7774948)^{1, 3} Amagai M.... Shimizu N. (1995)
10. Desmosomal glycoproteins II and III. Cadherin-like junctional molecules generated by alternative splicing. (PubMed id 2037591)^{1, 2} Parker A.E.... Buxton R.S. (1991)

External Searches for DSC2 gene

Genome Databases showing DSC2 gene

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Products
for DSC2 gene