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FLASH GENE

Symbol

HPSE2

contributors: mct/npt - updated : 24-01-2009

HGNC name	heparanase 2
HGNC id	18374

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	UFS urofacial syndrome
Location	10q24.2      Physical location : 100.216.834 - 100.995.632
Synonym name	heparanase-like protein
	heparanase 3
Synonym symbol(s)	HPR2, HPA2, MGC133234, FLJ11684, FLJ44022
EC.number	3.2.-.-

DNA

TYPE	functioning gene
STRUCTURE	776.74 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D10S2437 - D10S110 - HPSE2 - D10S198 - D10S1309E - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001166246 - splicing 4419 NP_001159718 - 548 - McKenzie (2000) NM_001166244 - splicing 4175 NP_001159716 - 534 - McKenzie (2000) NM_001166245 - splicing 4013 NP_001159717 - 480 - McKenzie, Deloukas (2004) NM_021828 12 - 4349 NP_068600 - 592 - -

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 Cardiovascular heart         Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE)

HOMOLOGY

Homologene

FAMILY

heparanase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular

basic FUNCTION	may be playing a role in extracellular matrix remodeling and in increasing heparin-binding growth factor release during embryo implantation (D'Souza 2008)
	may be important for the synergic action of muscles implicated in facial expression and urine voiding (Pang 2010)
	required for normal lower-urinary-tract innervation and/or neural function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituents of the extracellular matrix and basement membrane

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

UFS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS