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FLASH GENE

Symbol

EXT2

contributors: npt/ - updated : 21-08-2007

HGNC name	exostosin 2
HGNC id	3513

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL11PP Potocki-Shaffer syndrome EXT2 exostoses, multiple, 2
Location	11p11.2      Physical location : 44.117.098 - 44.266.979
Synonym name	exostoses (multiple) 2
	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
	multiple exostoses protein 2
Synonym symbol(s)	SOTV
EC.number	2.4.1.224, 2.4.1.225

DNA

TYPE	functioning gene
STRUCTURE	149.88 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

including exons 1a, ab

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000401 - splicing 3469 NP_000392 82.3 718 - Ewing (2007) NM_207122 - splicing 3651 NP_997005 82.3 718 - Ewing (2007) NM_001178083 - - 3678 NP_001171554 - 728 - Ewing (2007)

EXPRESSION

Type	ubiquitous

constitutive of

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 pharynx       highly Endocrine adrenal gland       highly Reproductive female system uterus cervix   highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text

limb

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	a large N acetylglucosaminyl and glucoronyl transferase activities

conjugated

GlycoP

mono polymer

heteromer , oligo

HOMOLOGY

interspecies

homolog to murine Cxt2

intraspecies

homolog to EXT1,highly

Homologene

FAMILY

glycosyltransferase 47 family

CATEGORY

enzyme , regulatory , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,cytoplasm,organelle,Golgi
text	accumulating in the Golgi network

basic FUNCTION

glycosyltransferase having N-acetylglucosaminyl and glucoronyl transferase activity involved in the chain elongation in heparan sulfate/heparin biosynthesis

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

ossification

text	participating to the development of cytoskeleton of chondrocytes

PATHWAY

metabolism

carbohydrate

signaling

a component	homo/hetero-oligomeric complex with EXT1
	constituent of a stable H5 (heparan sulfate) polymerase complex
	with EXT1 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis (Busse 2007)

INTERACTION

DNA

RNA

small molecule

protein

GALNT5 and TRAP1 in normal type, not in mutated form

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EXT2 , DEL11PP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in osteochondroma tumoral       loss of function in bone tumor

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS