DSG2 Gene

Aliases
for DSG2 gene

Previous GC identifers: GC18P028897 GC18P027330 GC18P027332 GC18P025934

Summaries
for DSG2 gene

Genomic Views
for DSG2 gene

RefSeq DNA sequence:

NC_000018.9  NC_018929.1  NT_010966.14  

SwitchGear Promoter luciferase reporter plasmid: DSG2 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSG2

DSG2 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 GC18P029101:  view genomic region     (about GC identifiers)

Proteins
for DSG2 gene

1 PDB 3D structure from and Proteopedia for DSG2:

2YQG (3D)    

Explore the universe of human proteins at neXtProt for DSG2: NX_Q14126

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for DSG2 (Desmoglein-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: DSG2 OriGene Custom Protein Services for DSG2
	GenScript Custom Purified and Recombinant Proteins Services for DSG2
	Novus Biologicals DSG2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DSG2

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

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DSG2
	R&D Systems Antibodies for DSG2 (Desmoglein-2)
	OriGene Antibodies: DSG2 OriGene Custom Antibody Services for DSG2
	GenScript Custom Superior Antibodies Services for DSG2
	Novus Biologicals DSG2 Antibodies
	Abcam antibodies for DSG2
	Uscn Antibodies for DSG2
	ThermoFisher Antibodies for DSG2

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for DSG2 (Desmoglein-2)
	GenScript Custom Assay Services for DSG2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for DSG2

Protein Domains /
Families
for DSG2 gene

ProtoNet protein and cluster: Q14126

Function
for DSG2 gene

miRNA Products:		miRTarBase miRNAs that target DSG2: hsa-mir-155 (MIRT001550)
		OriGene 3'-UTR Clone: DSG2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DSG2
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate DSG2 (see all 16):
		hsa-miR-1271 hsa-miR-499-5p hsa-miR-124 hsa-miR-208b hsa-miR-208a hsa-miR-7-1* hsa-miR-506 hsa-miR-96
		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 DSG2 (see all 4) OriGene shRNA RFP: DSG2 OriGene siRNA: DSG2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DSG2

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for DSG2

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 DSG2 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSG2 (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DSG2 (NM_001943)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSG2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DSG2
		Search LifeMap BioReagents cell lines for DSG2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG2

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

(inferred from 1 allele) (MGI details for Dsg2)

Pathways & Interactions
for DSG2 gene

	Super-pathway	contained gene-specific pathways
1	Apoptotic cleavage of cellular proteins	Apoptotic cleavage of cellular proteins 1.00 Apoptotic execution phase 0.73
2	Arrhythmogenic right ventricular cardiomyopathy (ARVC)	Arrhythmogenic right ventricular cardiomyopathy (ARVC) 1.00 Arrhythmogenic right ventricular cardiomyopathy 0.99
3	Apoptotic cleavage of cell adhesion proteins	Apoptotic cleavage of cell adhesion proteins 1.00
4	Ubiquitinated Orc1 is degraded by the proteasome	Apoptosis 0.31

1 BioSystems Pathway for DSG2

Arrhythmogenic right ventricular cardiomyopathy

4        Reactome Pathways for DSG2

	Apoptotic cleavage of cell adhesion proteins
	Apoptotic execution phase
	Apoptotic cleavage of cellular proteins
	Apoptosis

1         Kegg Pathway  (Kegg details for DSG2)

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

Drugs & Compounds
for DSG2 gene

Transcripts
for DSG2 gene

Expression
for DSG2 gene

DSG2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAAGGATTT

6 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeInner Nuclear LayerType1 Off Cone Bipolar Cells			Bipolar, Retina
	HeartAtrioventricular CanalAtrioventricular Canal Cells			Myocardium
	KidneyUreteric BudUreteric Bud Cells			Kidney
	KidneyUreteric BudUreteric Bud Tip Cells			Kidney
	KidneyRenal Collecting Duct System			Kidney
	KidneyRenal Vesicle			Kidney
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 8 LifeMap Cells
	Name			Category
	PureStem™ progenitor E68 (Embryonic Progenitor Cell)
	PureStem™ progenitor T42 (Embryonic Progenitor Cell)
	PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)			Adipose, Bone, Cartilage
	PureStem™ progenitor E69 (Embryonic Progenitor Cell)
	PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
	PureStem™ progenitor T36 (Embryonic Progenitor Cell)
	PureStem™ progenitor U31 (Embryonic Progenitor Cell)
	PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSG2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DSG2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSG2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSG2

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG2

Orthologs
for DSG2 gene

Paralogs
for DSG2 gene

Paralogs for DSG2 gene

CDH4²  CDH18²  DSG4²  CDH3²  CDH10²  CDH11²  CDH1²  CDH6²  

DSC2²  CDH8²  CDH20²  CDH22²  DSC1²  CDH19²  DSG1²  CDH7²  

CDH9²  CDH12²  CDH26²  DSC3²  CDH2²  CDH24²  CDH15²  CDH5²  

DSG3²  

7 SIMAP similar genes for DSG2 using alignment to 3 protein entries:     DSG2_HUMAN (see all proteins):

DSG3    DKFZp686P23184    DSG4    CDH1    DSC2    CDH19

DSG1

DSG2 for paralogs           About GeneDecksing

Genomic Variants
for DSG2 gene

10/886 NCBI SNPs in DSG2 are shown (see all 886)     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
rs1939226391,2	C,F,	pathogenic	56833547(+)	GCAGCG/ATCATC	2	/I /V	mis1		1		EU	1323
rs1219130121,2	C	pathogenic	56839828(+)	CTAACA/GAAGGA	2	K E	mis1		0	--	--	--	--
rs1219130131,2	C,	pathogenic	56844806(+)	CCCCCG/ATGGCT	2	/M /V	mis1		1		EU	1305
rs80957041,2	C,F,H,	probable-non-pathogenic	56818172(+)	GTGACA/CGTGAC	2	T	syn1 ese3		4		NS EA	420
rs340656721,2	C,F,	probable-non-pathogenic	56818599(+)	AGTAAC/TTCAGG	2	T I	mis1		3		NA	78
rs22302351,2	C,F,H,	probable-non-pathogenic	56828372(+)	TGAATG/ATTACT	2	/I /V	mis1 ese3		17		MN NS EA NA CSA WA	1772
rs344170281,2	C,	probable-pathogenic	56818660(+)	CCTACT/CCCTCT	2	/P /S	mis1		1		NA	76
rs22302341,2	C,F,H,	probable-pathogenic	56839942(+)	CGCGCA/G/TTAAAA	3	I V L	mis1		23		MN NA NS EA EU	3734
rs99512701,2	C,F,	--	25933519(+)	tcctaT/Gttgtt	1	--	us2k1		3		WA CSA	122
rs287332031,2		--	25933721(+)	AGCCCA/GGGCTG	1	--	us2k1		0	--	--	--	--

HapMap Linkage Disequilibrium report for DSG2 (29078006 - 29128971 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for DSG2: --
Human Gene Mutation Database (HGMD): DSG2

Locus Specific Mutation Databases (LSDB): DSG2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSG2

DNA2.0 Custom Variant and Variant Library Synthesis for DSG2

Disorders / Diseases
for DSG2 gene

20/39 diseases for DSG2

10/12 Novoseek disease relationships for DSG2 gene (see all 12)    About this table

Publications
for DSG2 gene

PubMed articles for DSG2 gene, integrated from 9 sources (see all 128): (articles sorted by number of sources associating them with DSG2)

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. Identification of the ubiquitous human desmoglein, Dsg2, and the expression catalogue of the desmoglein subfamily of desmosomal cadherins. (PubMed id 8143788)^{1, 2, 9} Schaefer S.... Franke W.W. (1994)
3. The human gene (DSG2) coding for HDGC, a second member of the desmoglein subfamily of the desmosomal cadherins, is, like DSG1 coding for desmoglein DGI, assigned to chromosome 18. (PubMed id 1612610)^{1, 3, 9} Arnemann J....Buxton R.S. (1992)
4. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. (PubMed id 16773573)^{1, 2, 9} Awad M.M....Judge D.P. (2006)
5. Role of genetic testing in arrhythmogenic right ventr icular cardiomyopathy/dysplasia. (PubMed id 19863551)^{1, 2} Barahona-Dussault C....Brugada R. (2010)
6. 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)
7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
9. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)^{1, 2} Zhang H.... Aebersold R. (2003)
10. Complete amino acid sequence of the epidermal desmoglein precursor polypeptide and identification of a second type of desmoglein gene. (PubMed id 1935985)^{1, 2} Koch P.J.... Franke W.W. (1991)

External Searches for DSG2 gene

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Products
for DSG2 gene