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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ADAMTS20 Gene

protein-coding GIFtS: 51
GCID: GC12M043715

ADAM metallopeptidase with thrombospondin type 1 motif,...

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

Explore 5 diseases affiliated with
ADAMTS20 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, 20¹ ²		A Disintegrin And Metalloproteinase With Thrombospondin Motifs 20²
GON-1¹ ²		EC 3.4.24.-³
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 20¹ ²		ADAM-TS 20³
ADAM-TS20² ³		EC 3.4.24.14⁸
ADAMTS-20² ³		EC 3.4.24.82⁸

External Ids:	HGNC: 17178¹	Entrez Gene: 80070²	Ensembl: ENSG00000173157⁷	OMIM: 611681⁵	UniProtKB: P59510³

Export aliases for ADAMTS20 gene to outside databases

Previous GC identifers: GC12M043464 GC12M042034 GC12M040776

(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 ADAMTS20:

The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has

a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular

matrix. This protein may be involved in tissue remodeling. (provided by RefSeq, Sep 2011)

UniProtKB/Swiss-Prot: ATS20_HUMAN, P59510

Function: May play a role in tissue-remodeling process occurring in both normal and pathological conditions

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ADAMTS20 gene promoter:
Nkx3-1 GR SREBP-1c FOXD3 SREBP-1b FOXL1 Evi-1 SREBP-1a FOXJ2 (long isoform) GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ADAMTS20 promoter sequence

Search SABiosciences Chromatin IP Primers for ADAMTS20

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ADAMTS20

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

Entrez Gene cytogenetic band: 12q12 Ensembl cytogenetic band: 12q12 HGNC cytogenetic band: 12q12

ADAMTS20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS20 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M043715: view genomic region (about GC identifiers)

Start:	43,747,669 bp from pter	End:	43,945,724 bp from pter
Size:	198,056 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: ATS20_HUMAN, P59510 (See protein sequence)

Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 20 precursor

Size: 1910 amino acids; 214721 Da

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

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

Secondary accessions: A6NNC9

Alternative splicing: 2 isoforms: P59510-1 P59510-2

Explore the universe of human proteins at neXtProt for ADAMTS20: NX_P59510

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_P59510

3 DME Specific Peptides for ADAMTS20 (P59510)

VCGGDNS

CSRSCGGG

DKCGVCGG

ADAMTS20 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_079279.3

ENSEMBL proteins:

ENSP00000374071 ENSP00000447427 ENSP00000448341 ENSP00000378911

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	Uscn Proteins for ADAMTS20

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:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	--	--
GO:0031012	colocalizes with extracellular matrix	TAS	--

ADAMTS20 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

ADAMTS20 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR000884 Thrombospondin_1_rpt

IPR024079 MetalloPept_cat_dom

IPR010294 ADAM_spacer1

IPR001590 Peptidase_M12B

IPR002870 Peptidase_M12B_N

Graphical View of Domain Structure for InterPro Entry P59510

ProtoNet protein and cluster: P59510

4 Blocks protein families:

IPB000884 Thrombospondin

IPB001762 Disintegrin

IPB002870 Metalloendopeptidase M12B

IPB010294 ADAM-TS Spacer 1

UniProtKB/Swiss-Prot: ATS20_HUMAN, P59510

Similarity: Contains 1 disintegrin domain

Similarity: Contains 1 GON domain

Similarity: Contains 1 peptidase M12B domain

Similarity: Contains 15 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: ATS20_HUMAN, P59510

Function: May play a role in tissue-remodeling process occurring in both normal and pathological conditions

Enzyme Numbers (IUBMB): EC 3.4.24.-¹ EC 3.4.24.14² EC 3.4.24.82²

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004175	endopeptidase activity	--	--
GO:0004222	metalloendopeptidase activity	IEA	--
GO:0008270	zinc ion binding	IEA	--

ADAMTS20 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ADAMTS20:

Decreased viability of wild-ty

7 MGI mutant phenotypes (inferred from 14 alleles) (MGI details for Adamts20):

cellular	embryogenesis	integument	limbs/digits/tail	mortality/aging
nervous system	pigmentation

ADAMTS20 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ADAMTS20

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADAMTS20

(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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ADAMTS20

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for ADAMTS20 (P59510³ ENSP00000374071⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0009967	positive regulation of signal transduction	--	--
GO:0030198	extracellular matrix organization	--	--
GO:0043066	negative regulation of apoptotic process	--	--
GO:0045636	positive regulation of melanocyte differentiation	--	--

ADAMTS20 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ADAMTS20
Search CenterWatch for drugs/clinical trials and news about ADAMTS20 / ATS20

(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 ADAMTS20 gene (2 alternative transcripts):

NM_025003.3 NM_175851.1

Unigene Cluster for ADAMTS20:

ADAM metallopeptidase with thrombospondin type 1 motif, 20

Hs.287554 [show with all ESTs]

Unigene Representative Sequence: AF488804

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

ENST00000389420(uc010skx.2) ENST00000549670 ENST00000553158(uc001rnp.1)

ENST00000395541(uc001rno.1)

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Additional cDNA sequence:

AF488804.1 AJ515153.3 AJ515154.2 AK023228.1

4 DOTS entries:

DT.100740815 DT.92066875 DT.91742187 DT.97773791

8 AceView cDNA sequences:

AJ515153 AJ515154 NM_025003 AU132053 AK023228 NM_175851 AF488804 AU153670

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS20 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18a	·	18b	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^
SP1:
SP2:																																																	-

ExUns:	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40
SP1:							-
SP2:

ECgene alternative splicing isoforms for ADAMTS20

(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

ADAMTS20 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATGTTTAT

About this image

ADAMTS20 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)

Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ADAMTS20 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ADAMTS20

SOURCE GeneReport for Unigene cluster: Hs.287554

UniProtKB/Swiss-Prot: ATS20_HUMAN, P59510

Tissue specificity: Very sparingly expressed, although is detected at low levels in testis, prostate, ovary, heart,

placenta, lung and pancreas. Overexpressed in several brain, colon and breast carcinomas

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In Situ
Assay Products:

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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 ADAMTS20 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ADAMTS20¹	ADAM metallopeptidase with thrombospondin type 1 motif, more	70.88(n) 63.93(a)		417794 XM_416037.3 XP_416037.3
lizard (Anolis carolinensis)	Reptilia	ADAMTS20⁶	--	61(a)	1 ↔ 1	5(54722968-54794148)
zebrafish (Danio rerio)	Actinopterygii	CABZ01021681.1⁶ CABZ01086544.1⁶	--	59(a) 46(a)	1 ↔ 1 possible ortholog	Zv9_NA761(266-42075) Zv9_NA281(2110-13971)
fruit fly (Drosophila melanogaster)	Insecta	CG14869⁶	--	23(a)	1 → many	3R(11267965-11301915)
worm (Caenorhabditis elegans)	Secernentea	gon-1⁶ mig-17⁶	ADAM family mig-17	27(a) 17(a)	1 ↔ many possible ortholog	IV(9935046-9945754) V(11446634-11449228)

ENSEMBL Gene Tree for ADAMTS20 (if available)
TreeFam Gene Tree for ADAMTS20 (if available)

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

Paralogs for ADAMTS20 gene

ADAMTS7² ADAMTS17² ADAMTS1² ADAMTS18² ADAMTS6² ADAMTS19² ADAMTS12² ADAMTS14²

ADAMTS2² ADAMTS5² ADAMTS4² ADAMTS15² ADAMTS16² ADAMTS8² ADAMTS9² ADAMTS3²

ADAMTS10²

13 SIMAP similar genes for ADAMTS20 using alignment to 6 protein entries: ATS20_HUMAN (see all proteins):

ADAMTS9 ADAMTS4 ADAMTS8 ADAMTS1 ADAMTS15 DKFZp686E01144

ADAMTS13 ADAMTS6 ADAMTSL1 ADAMTS18 ADAMTS2 ADAMTS16

ADAMTS10

ADAMTS20 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 12 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs79065113^1,2	C,F	other	40874826(+)	`ACAACA/G/TATCCT`	3	S R C	mis¹		1	EA	120
rs77785604^1,2	F	--	40775800(+)	`TATCCT/CAATAT`	1	--	ds500¹		1	EA	120
rs61748366^1,2	C	--	40776288(+)	`TTTGCC/TGAAAA`	2	S G	mis¹		1	NA	4486
rs111317806^1,2	F	--	40776348(+)	`ACAAGG/CTGGTA`	1	--	int¹		2	CSA	4
rs73284831^1,2	C	--	40776477(+)	`TCAAAT/CTGGTG`	1	--	int¹		2	WA	120
rs80117651^1,2	C,F	--	40776901(+)	`GGGAGA/GTTGTT`	1	--	int¹		1	WA	118
rs7297735^1,2	C,F,A,H	--	40776916(+)	`AAGCAG/AAGCAG`	1	--	int¹		21	NS EA NA WA CSA	2318
rs73284837^1,2	C	--	40777797(+)	`CACCAC/TACCTG`	1	--	int¹		1	WA	2
rs75559961^1,2	C,F	--	40779032(+)	`AACAGC/GGTGCA`	1	--	int¹		1	WA	118
rs11182036^1,2	C,F,A,H	--	40780318(+)	`CTCTGT/GACTAA`	1	--	int¹		11	NS EA WA CSA NA	784

HapMap Linkage Disequilibrium report for ADAMTS20 (43747669 - 43945724 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ADAMTS20
1 CNV: 23444
2 Indels: 58572 101498

2 SABiosciences Cancer Mutation PCR Assays for ADAMTS20:

Cosmic Id	AA Change
142269	p.G1870E
142268	p.G1870R

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ADAMTS20

DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS20

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

ADAMTS20 for disorders           About GeneDecksing

OMIM gene information: 611681    OMIM disorders: --

5 diseases for ADAMTS20:    About MalaCards

weill-marchesani syndrome hermaphroditism breast carcinoma carcinoma

prostatitis

1 disease from the University of Copenhagen DISEASES database for ADAMTS20:

Weill-Marchesani syndrome

Human Genome Epidemiology (HuGE) Navigator: ADAMTS20 (1 document)

Export disorders for ADAMTS20 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 ADAMTS20 gene integrated from 9 sources:
(articles sorted by number of sources associating them with ADAMTS20)

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Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. (PubMed id 12514189)^{1, 2, 3, 9} Somerville R.P.... Apte S.S. (2003)
Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain. (PubMed id 12562771)^{1, 2, 3} Llamazares M.... Lopez-Otin C. (2003)
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (PubMed id 22379998)¹ McCormack M....Cavalleri G.L. (2012)
Association of the OCA2 polymorphism His615Arg with m elanin content in east Asian populations: further evidence of convergent evolut ion of skin pigmentation. (PubMed id 20221248)¹ Edwards M....Parra E.J. (2010)
The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 80070	HGNC: 17178	AceView: ADAMTS20	Ensembl:ENSG00000173157	euGenes: HUgn80070
ECgene: ADAMTS20	H-InvDB: ADAMTS20

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ADAMTS20	Pharmacogenomics, SNPs, Pathways

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