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FLASH GENE

Symbol

ADAMTS2

contributors: mct/npt - updated : 27-10-2006

HGNC name	ADAM metallopeptidase with thrombospondin type 1 motif, 2
HGNC id	218

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EDS7C Ehlers-Danlos syndrome, type VIIC
Location	5q23      Physical location : 178.537.851 - 178.772.431
Synonym name	procollagen amino-propeptide processing enzyme
	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2
Synonym symbol(s)	PCNIP, ADAM-TS2, ADAMTS-3, NPI, PCINP, PCPNI, NPI
EC.number	3.4.24.14

DNA

TYPE	functioning gene
STRUCTURE	231.50 kb     22 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 3661 134 1211 - Reardon variant 2 - - 1701 - 566 - Reardon lacking the C terminal TSP motifs and peptidase activity 11 exons

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   vessels aorta     highly Lymphoid/Immune thymus       lowly Nervous brain       lowly Reproductive female system uterus     highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose       Connective bone       Connective dense tendon

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence
	a propeptide domain
	a reprolysin-type catalytic domain
	a disintegrin-like domain
	four thrombospondin type 1 (TSP1) module
	a cysteine rich domain
	a spacer domain without cysteine residues
	terminal TSP-like modules

conjugated

MetalloP

HOMOLOGY

interspecies

ortholog to murine Adamts2

Homologene

FAMILY

ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	a disintegrin-like and metalloprotease, cell surface adhesion protein, procollagen I/II aminopeptide processing enzyme
	extracellular metalloproteinase responsible for cleaving the N-propeptides of procollagens I-III
	cleaving the propeptides of type I and II collagen prior to fibril assembly and may be playing a role in development that is independent of its role in collagen biosynthesis

CELLULAR PROCESS	protein, post translation
	protein, degradation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Zn2+

protein

cell & other

REGULATION

inhibited by

TIMP3 (inhibit procollagen processing by cells)

ASSOCIATED DISORDERS

corresponding disease(s)

EDS7C

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS