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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ADAMTS2 Gene

protein-coding GIFtS: 56
GCID: GC05M178537

ADAM metallopeptidase with thrombospondin type 1 motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)

Explore 16 diseases affiliated with
ADAMTS2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 2¹ ²		PCPNI² ³
ADAM-TS2¹ ² ³		PC I-NP² ³
PCINP¹ ² ³		EC 3.4.24.14³ ⁸
NPI¹ ² ⁵		HPCPNI¹
ADAMTS-3¹ ²		PCI-NP²
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 2¹ ²		PNPI²
Procollagen I N-Proteinase² ³		A Disintegrin And Metalloproteinase With Thrombospondin Motifs 2²
Procollagen I/II Amino Propeptide-Processing Enzyme² ³		ADAM-TS 2³
Procollagen N-Endopeptidase² ³		PNPI²
ADAMTS-2² ³		EC 3.4.24⁸

External Ids:	HGNC: 218¹	Entrez Gene: 9509²	Ensembl: ENSG00000087116⁷	OMIM: 604539⁵	UniProtKB: O95450³

Export aliases for ADAMTS2 gene to outside databases

Previous GC identifers: GC05M178625 GC05M179449 GC05M178654 GC05M178473 GC05M173265

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ADAMTS2:

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein

family. Members of the family share several distinct protein modules, including a propeptide region, a

metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of

this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded

by this gene excises the N-propeptide of type I, type II and type V procollagens. Mutations in this gene cause

Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in

multiple transcript variants. (provided by RefSeq, Jul 2010)

UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450

Function: Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III

collagen. May also play a role in development that is independent of its role in collagen biosynthesis

Gene Wiki entry for ADAMTS2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ADAMTS2 gene promoter:
USF1 USF2 USF-1:USF-2 E47 S8 E2F E2F-1 USF-1 SEF-1 (1) Hand1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for ADAMTS2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTS2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5qter Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q23-q24

ADAMTS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M178537: view genomic region (about GC identifiers)

Start:	178,537,852 bp from pter	End:	178,772,431 bp from pter
Size:	234,580 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450 (See protein sequence)

Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 2 precursor

Size: 1211 amino acids; 134755 Da

Cofactor: Binds 1 zinc ion per subunit (By similarity)

Subunit: May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity)

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

Caution: Has sometimes been referred to as ADAMTS3

Alternative splicing: 2 isoforms: O95450-1 O95450-2 (Has no significant N-procollagen peptidase activity)

Explore the universe of human proteins at neXtProt for ADAMTS2: NX_O95450

Post-translational modifications:

The precursor is cleaved by a furin endopeptidase (By similarity)¹

Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence

C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the

repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose

residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members.

Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence

W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95450

4/20 DME Specific Peptides for ADAMTS2 (O95450) (see all 20)

VCGGDNS

TKYGCRR

SNCDGLAG

EQCRFDFG

ADAMTS2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_055059.2 NP_067610.1

ENSEMBL proteins:

ENSP00000251582 ENSP00000274609

Reactome Protein details: O95450
Human Recombinant Protein Products for ADAMTS2:

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	Uscn Proteins for ADAMTS2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0031012	extracellular matrix	--	--

ADAMTS2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ADAMTS2 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR000884 Thrombospondin_1_rpt

IPR024079 MetalloPept_cat_dom

IPR010294 ADAM_spacer1

IPR010909 PLAC

IPR001590 Peptidase_M12B

Graphical View of Domain Structure for InterPro Entry O95450

ProtoNet protein and cluster: O95450

5/6 Blocks protein families (see all 6):

IPB000884 Thrombospondin

IPB001762 Disintegrin

IPB002870 Metalloendopeptidase M12B

IPB008085 Thrombospondin type 1 repeat signature

IPB010294 ADAM-TS Spacer 1

UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450

Domain: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular

matrix

Similarity: Contains 1 disintegrin domain

Similarity: Contains 1 peptidase M12B domain

Similarity: Contains 1 PLAC domain

Similarity: Contains 4 TSP type-1 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ATS2_HUMAN, O95450

Function: Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III

collagen. May also play a role in development that is independent of its role in collagen biosynthesis

Catalytic activity: Cleaves the N-propeptide of collagen chain alpha-1(I) at Pro- -Gln and of alpha-1(II) and

alpha-2(I) at Ala- -Gln

Genatlas biochemistry entry for ADAMTS2:

a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 2,extracellular matrix

protein

Enzyme Numbers (IUBMB): EC 3.4.24.14¹ ² EC 3.4.24²

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004222	metalloendopeptidase activity	IEA	--
GO:0008233	peptidase activity	--	--
GO:0008237	metallopeptidase activity	TAS	10417273
GO:0008270	zinc ion binding	IEA	--

ADAMTS2 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Adamts2):

craniofacial	integument	normal	reproductive system	respiratory system
skeleton

ADAMTS2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Adamts2^tm1Prc for ADAMTS2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ADAMTS2

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		hsa-miR-4291 hsa-miR-1178 hsa-miR-330-5p hsa-miR-2110 hsa-miR-767-5p hsa-miR-29a hsa-miR-29c hsa-miR-3653

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Collagen biosynthesis and modifying enzymes	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for ADAMTS2

	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Collagen formation

ADAMTS2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ADAMTS2

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for ADAMTS2 (O95450³ ENSP00000251582⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PIK3R1	P27986³, ENSP00000274335⁴	I2D: score=1 STRING: ENSP00000274335
PIK3R5	Q8WYR1³, ENSP00000269300⁴	I2D: score=1 STRING: ENSP00000269300
BMP1	ENSP00000305714⁴	STRING: ENSP00000305714
PCOLCE	ENSP00000223061⁴	STRING: ENSP00000223061
TLL1	ENSP00000061240⁴	STRING: ENSP00000061240

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0007283	spermatogenesis	IEA	--
GO:0016485	protein processing	IEA	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0030199	collagen fibril organization	IEA	--

ADAMTS2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ADAMTS2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ADAMTS2

1 HMDB Compound for ADAMTS2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Zinc	Zinc (see all 2)	7440-66-6	--

1 Novoseek chemical compound relationship for ADAMTS2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
procollagen	74.7	6	18542833 (2), 18084737 (1), 15389701 (1), 12646579 (1)

Search CenterWatch for drugs/clinical trials and news about ADAMTS2 / ATS2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ADAMTS2 gene (2 alternative transcripts):

NM_014244.4 NM_021599.2

Unigene Cluster for ADAMTS2:

ADAM metallopeptidase with thrombospondin type 1 motif, 2

Hs.23871 [show with all ESTs]

Unigene Representative Sequence: NM_014244

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000251582(uc003mjw.3) ENST00000522937 ENST00000523450 ENST00000518335

ENST00000274609(uc011dgm.2)

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Additional cDNA sequence:

AJ003125.1 AK308213.1 BC098581.1 BX537606.1

4 DOTS entries:

DT.202953 DT.97825427 DT.91828867 DT.95150484

24/175 AceView cDNA sequences (see all 175):

BQ017847 AI143851 AI753961 AA732806 BQ574410 BQ015260 T47635 BF058422

CA441693 BX479109 AL046910 AI147135 BU579808 BQ019905 AA664436 AI097350

AA906547 AW583281 NM_021599 CA449120 AI381219 CK725208 AI755089 BX282618

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ADAMTS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ADAMTS2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ADAMTS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ADAMTS2

SOURCE GeneReport for Unigene cluster: Hs.23871

UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450

Tissue specificity: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS2 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ADAMTS2¹	ADAM metallopeptidase with thrombospondin type 1 motif, more	71.82(n) 76.32(a)		416291 XM_414611.3 XP_414611.3
lizard (Anolis carolinensis)	Reptilia	ADAMTS2⁶ --	--	79(a) 25(a)	1 ↔ 1 possible ortholog	2(140868727-140956694) 2(10454625-10471737)
zebrafish (Danio rerio)	Actinopterygii	adamts3¹	ADAM metallopeptidase with thrombospondin type 1 motif, more	66.07(n) 64.17(a)		571682 XM_695292.2 XP_700384.2
honey bee (Apis mellifera)	Insecta	--	--	24(a)	1 → many	Group16.4(41440-51250)

ENSEMBL Gene Tree for ADAMTS2 (if available)
TreeFam Gene Tree for ADAMTS2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ADAMTS2 gene

ADAMTS17² ADAMTS18² ADAMTS6² ADAMTS12² ADAMTS20² ADAMTS5² ADAMTS4² ADAMTS16²

ADAMTS9² ADAMTS10² ADAMTS7² ADAMTS1² ADAMTS19² ADAMTS14² ADAMTS15² ADAMTS8²

ADAMTS3²

10 SIMAP similar genes for ADAMTS2 using alignment to 1 protein entry: ATS2_HUMAN:

ADAMTS14 ADAMTS3 ADAMTS13 ADAMTS20 ADAMTS1 ADAMTS4

DKFZp686E01144 ADAMTS15 ADAMTS18 ADAMTS8

ADAMTS2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1650353^1,2	H	--	173265036(+)	`atttcA/Cctgtg`	1	--	ds500¹		4	NS EA	420
rs76423191^1,2	C	--	173265274(+)	`ATGCTC/TCCCGG`	1	--	ds500¹		1	NA	2
rs10077338^1,2	C,F,H	--	173265367(+)	`GAAGAC/TAACAA`	1	--	ds500¹		7	NS EA WA CSA	538
rs60250623^1,2	C,F	--	173265481(+)	`TGTATC/TGGTAA`	1	--	ut3¹		3	CSA WA	122
rs11740156^1,2	C,H	--	173265545(+)	`GTCATA/GCAGGA`	1	--	ut3¹		1	NA	92
rs78886769^1,2	C	--	173265960(+)	`AGCCCG/AGTGAA`	1	--	ut3¹		2	NA	122
rs77882118^1,2		--	173266258(+)	`TTAGTC/ACTGAA`	1	--	ut3¹		1	WA	118
rs13187674^1,2	H	--	173266392(+)	`AGGCAG/TGATTG`	1	--	ut3¹		4	NS EA	420
rs115989271^1,2	C,F	--	173266580(+)	`GATTCC/TGTTCT`	1	--	ut3¹		1	WA	118
rs13188171^1,2	H	--	173266655(+)	`CCTCAG/TACAAA`	1	--	ut3¹		4	NS EA	420

HapMap Linkage Disequilibrium report for ADAMTS2 (178537852 - 178772431 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 21 variations for ADAMTS2
11 CNVs: 3590 8504 81153 93395 59253 93391 2611 37537 53794 81155 37744
10 Indels: 46834 64394 12789 93392 12788 93394 93393 46833 93390 81154
Human Gene Mutation Database (HGMD): ADAMTS2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ADAMTS2 for disorders           About GeneDecksing

OMIM gene information: 604539
OMIM disorders: 225410
UniProtKB/Swiss-Prot: ATS2_HUMAN, O95450

Defects in ADAMTS2 are the cause of Ehlers-Danlos syndrome type 7C (EDS7C) [MIM:225410]. EDS is a connective

tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint

hyperlaxity. EDS7C is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin

contains numerous folds, as in the cutis laxa syndrome

16 diseases for ADAMTS2: About MalaCards

ehlers-danlos syndrome, type viic ehlers-danlos syndrome ehlers-danlos syndrome dermatosparaxis type attention deficit hyperactivity disorder

lewy body dementia connective tissue disease cutis laxa osteogenesis imperfecta

exhibitionism frontotemporal dementia vascular dementia dementia

renal cell carcinoma parkinson's disease retinitis carcinoma

4 diseases from the University of Copenhagen DISEASES database for ADAMTS2:

Alzheimer's disease Brain disease Ehlers-Danlos syndrome Anosognosia

4 Novoseek disease relationships for ADAMTS2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dermatosparaxis	97.8	12	10417273 (3), 1642226 (1), 11408482 (1), 15389701 (1) (see all 7)
ehlers-danlos syndrome	88.9	7	10417273 (1), 15373769 (1), 11408482 (1), 15389701 (1) (see all 6)
connective tissue diseases	45.5	1	15389701 (1)
cancer	0	1	15538223 (1)

Export disorders for ADAMTS2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ADAMTS2 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with ADAMTS2)

Utopia: connect your pdf to the dynamic
world of online information

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (PubMed id 10417273)^{1, 2, 9} Colige A.... Nusgens B.V. (1999)
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. (PubMed id 15373769)^{1, 3, 9} Colige A....Nusgens B.V. (2004)
ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. (PubMed id 10094461)^{1, 3} Tang B.L. and Hong W. (1999)
ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. (PubMed id 10464288)^{1, 9} Hurskainen T.L.... Apte S.S. (1999)
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. (PubMed id 11741898)^{1, 9} Colige A.... Nusgens B.V. (2002)
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)¹ Fox C.S....Borecki I.B. (2012)
Expression of ADAMTS-2, -3, -13, and -14 in culprit co ronary lesions in patients with acute myocardial infarction or stable angina. (PubMed id 22205175)¹ Lee C.W....Park S.J. (2012)
ADAMTS-2 functions as anti-angiogenic and anti-tumora l molecule independently of its catalytic activity. (PubMed id 20574651)¹ Dubail J....Colige A. (2010)
Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)¹ Wang J....He F. (2008)
Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. (PubMed id 18937294)¹ Lasky-Su J....Faraone S.V. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9509	HGNC: 218	AceView: ADAMTS2	Ensembl:ENSG00000087116	euGenes: HUgn9509
ECgene: ADAMTS2	H-InvDB: ADAMTS2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ADAMTS2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ADAMTS2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ADAMTS2 gene:
Search GeneIP for patents involving ADAMTS2

GeneCards and IP:
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ADAMTS2 (Gene Symbol)
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 2
ADAM-TS2
PCINP
NPI
ADAMTS-3
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 2
Procollagen I N-Proteinase
Procollagen I/II Amino Propeptide-Processing Enzyme
Procollagen N-Endopeptidase
ADAMTS-2
PCPNI
PC I-NP
EC 3.4.24.14
HPCPNI
PCI-NP
PNPI
A Disintegrin And Metalloproteinase With Thrombospondin Motifs 2
ADAM-TS 2
PNPI
EC 3.4.24

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ADAMTS2 Gene

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