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FLASH GENE

Symbol

DSC2

contributors: mct - updated : 18-04-2020

HGNC name	desmocollin 2
HGNC id	3036

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARVD10 arrhythmogenic right ventricular dysplasia, famililal, 10
Location	18q12.1      Physical location : 28.645.943 - 28.682.388
Synonym name	desmosomal glycoprotein
	cadherin family member 2
	desmosomal glycoprotein II/III
Synonym symbol(s)	DSC3, CDHF2, DG2, DGII/III, DKFZp686I11137, ARVD10
EC.number	2.7.1.37

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with DSC1, DSC3 and desmogleins DSG1, DSG2, DSG3
STRUCTURE	43.58 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

clustered with DSC1, DSC3 and desmogleins DSG1, DSG2, DSG3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024422 16 splicing 5211 NP_077740 120 901 - 1991 2037591 also called DSC2a NM_004949 17 splicing 5257 NP_004940 100 847 - 1991 2037591 also called DSC2b inclusion of a 46bp exon containing an in frame stop codon

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive esophagus         Homo sapiens   intestine large intestine colon   highly Homo sapiens Lymphoid/Immune lymph node       moderately Respiratory respiratory tract larynx     highly Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis     Muscular striatum cardiac myocardium

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	five cadherin domains
	five extracellular domains at the N-terminus, extracellular domain (ECD) with three disulfide bridges, four N-glycosylation sites, and four O-mannosylation sites (importance of N-glycosylation at multiple sites of DSC2 for efficient intracellular transport to the plasma membrane)
	a single transmembrane-spanning domain
	a cytoplasmic tail at the carboxy terminus

conjugated

GlycoP

HOMOLOGY

intraspecies

homolog to desmoglein

Homologene

FAMILY

cadherin superfamily of calcium dependent cell-adhesion molecule (intercellular) adhesion molecule

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	plasma membrane,junction,desmosome
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	required for cell adhesion and desmosome formation
	involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion
	may contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms
	playing a crucial role for normal cardiac desmosome formation, early cardiac morphogenesis, and cardiac function
	play a critical role in the maintenance of tissue integrity in epithelia and cardiac muscle
	desmosomal component, that is a key membrane glycoprotein critically involved in cell-cell adhesion and the maintenance of normal tissue architectures in epithelia
	is involved in the transformation and development of esophageal tumors
	DSG2 and DSC2 both exhibit microtubule-dependent transport in epithelial cells but use distinct motors to traffic to the plasma membrane
	DSG2 and DSC2 play opposing roles in controlling colonic carcinoma cell proliferation through differential effects on EGFR signaling
	DSC2 may be involved in the regulation of the invasive behavior of cells by a mechanism that controls cell&
	8209;cell attachment and cytoskeleton rearrangement
	essential for the unity of epithelial cells, and served as a vital regulator in signaling processes such as epithelial morphogenesis, differentiation, wound healing
	epithelial DSC2 is a key contributor to intestinal mucosal wound healing

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of intercellular desmosome junctions

INTERACTION

DNA

RNA

small molecule

protein	LEF1 acts as a switch activating DSC2 and repressing DSC3 in the presence of JUP
	juxtamembrane region of DSC2 and PKP2, PKP3 are involved in the desmosomal plaque formation, possibly through the interaction between this region and plakophilins
	PKP3 increases desmosome assembly, size and stability by increasing expression of DSC2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARVD10

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in oesophageal squamous cell carcinoma (ESCC), and is associated with enhanced tumour metastasis and poor prognosisv

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	DSC2 is a useful immunohistochemical marker for separation of UC with squamous differentiation from pure Urothelial carcinoma (UC)
	DSC2 expression level was an independent prognostic factor for esophageal squamous cell carcinoma
Therapy target

ANIMAL & CELL MODELS