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FLASH GENE

Symbol

DSG3

contributors: mct - updated : 22-08-2014

HGNC name	desmoglein 3 (pemphigus vulgaris antigen)
HGNC id	3050

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with DSC1, DSC2, DSC3 and desmogleins DSG1, DSG2
STRUCTURE	30.93 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see DSG1 ,TTR

regionally located

clustered with DSG1, DGS2 and desmocollins DSC1, DSC2, DSC3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001944 16 - 5561 NP_001935 - 999 - 2008 18343367

EXPRESSION

Type	restricted

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 Digestive esophagus           mouth           pharynx         Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining epidermis stratum basale

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an intracellular anchor (IA) region, necessary for complex formation with CTNND1, and to maintain free DSG3 at the cell surface before it is integrated into desmosomes

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

cadherin superfamily of calcium dependent cell-adhesion molecule

CATEGORY

adhesion , antigen

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

basic FUNCTION	required for cell adhesion and desmosome formation
	critical for development of the epidermis and physiologic terminal differentiation of keratinocytes
	DSG2 is less important than DSG3 for keratinocyte cohesion

CELLULAR PROCESS

cell communication

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of desmosome

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

associates wirh CTNND1, through the membrane proximal region (corresponding to AAs 641-714) in the intracellular anchor (IA) region of DSG3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   in Pemphigus vulgaris, autoantibodies generated target the desmosomal cadherin desmoglein-3 (DSG3) tumoral     --over   in head neck cancer

Susceptibility

to pemphigus vulgaris (PV) and herpetiform pemphigus, (autoantigen)

Variant & Polymorphism other	genetic variation may be an additive risk factor predisposing to PV

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer head and neck   target in the development of adjuvant therapy for head neck cancer

ANIMAL & CELL MODELS