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FLASH GENE

Symbol

DSE

contributors: npt/mct - updated : 26-11-2014

HGNC name	dermatan sulfate epimerase
HGNC id	21144

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EDSMC2 Ehlers-Danlos syndrome, musculocontractural type 2
Location	6q22.1      Physical location : 116.601.282 - 116.759.440
Synonym name	squamous cell carcinoma antigen recognized by T cells 2
	chondroitin-glucuronate 5-epimerase
Synonym symbol(s)	SART2, DSEPI, DSEPPI, EDSMC2, SART-2, DS-epi1
EC.number	5.1.3.19

DNA

TYPE	functioning gene
STRUCTURE	161.14 kb     6 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	Variants 1 and 2 both encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013352 6 - 4077 NP_037484 110 958 - 2006 16505484 NM_001080976 6 - 4043 NP_001074445 - 958 - 2006 16505484

EXPRESSION

Type	ubiquitous

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 intestine large intestine colon   lowly Lymphoid/Immune spleen       highly Homo sapiens Nervous brain       lowly Homo sapiens Respiratory lung       highly Homo sapiens Skin/Tegument skin       highly Homo sapiens

cell lineage
cell lines	squamous cell carcinoma (head and neck, esophagus, lung and uterus), renal cell carcinoma, brain tumors, partly in adenocarcinoma and melanoma
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a potential signal peptide
	a motif-like ER membrane retention signal
	five potential N-glycosylation sites
	two C-terminal hydrophobic potential transmembrane domains

HOMOLOGY

interspecies	homolog to murine B130024B19Rik
	homolog to rattus LOC365583

intraspecies

homolog to highly to DCAG1

Homologene

FAMILY

dermatan-sulfate isomerase family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,vesicle
text	localization in ERs and in part in Golgi

basic FUNCTION	tumor rejection antigen, capable of inducing tumor-specific cytotoxic T lymphocytes
	may be useful for specific immunotherapy for cancer patients
	converting D-glucuronic acid to L-iduronic acid residues in dermatan sulfate biosynthesis
	convert glucuronic acid to iduronic acid in chondroitin/dermatan sulfate biosynthesis
	iduronic acid (IdoA)-producing enzyme

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EDSMC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in esophagus squamous cell carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive oesophagus downregulation of IdoA by DSE inhibitors may represent a new anticancer therapy

ANIMAL & CELL MODELS

Dse-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin