Hs02615534_cn

• Gene Symbol: DSC2
• Assay Reference Genome Location: Chr.18:31066279 on build GRCh38
• Cytoband: 18q12.1

Target Gene Details

• Entrez Gene ID: 1824
• Gene Name: desmocollin 2
• Gene Aliases: ARVD11, CDHF2, DG2, DGII/III, DSC3
• Location: Chr.18:31065974-31102432 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DSC2	NM_004949.4	17	4949	NP_004940.1
	NM_024422.4	16	4903	NP_077740.1
	XM_005258206.4	16	4404	XP_005258263.1
	BC063291.1	16	4885	AAH63291.1
	BE350090.1	1	312
	BU735677.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv2244	Chr.18:31055588 - 31086414 on Build GRCh38	Deletion	DSC2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cadherin

Gene Ontology Categories:

Process(es)

cell adhesion
homophilic cell adhesion via plasma membrane adhesion molecules
cellular response to starvation
cardiac muscle cell-cardiac muscle cell adhesion
bundle of His cell-Purkinje myocyte adhesion involved in cell communication
regulation of heart rate by cardiac conduction
regulation of ventricular cardiac muscle cell action potential

Function(s)

calcium ion binding
protein binding
cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication