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Aliases for ADAMTS6 Gene

Aliases for ADAMTS6 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 6 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 6 2 3
  • ADAM-TS 6 3 4
  • ADAM-TS6 3 4
  • ADAMTS-6 3 4
  • EC 58
  • EC 3.4.24.- 4

External Ids for ADAMTS6 Gene

Previous GeneCards Identifiers for ADAMTS6 Gene

  • GC05M064657
  • GC05M066048
  • GC05M064480
  • GC05M064526
  • GC05M064545
  • GC05M061399

Summaries for ADAMTS6 Gene

Entrez Gene Summary for ADAMTS6 Gene

  • 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 encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]

GeneCards Summary for ADAMTS6 Gene

ADAMTS6 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6) is a Protein Coding gene. Diseases associated with ADAMTS6 include Inguinal Hernia and Weill-Marchesani Syndrome. Among its related pathways are HIV Life Cycle and O-linked glycosylation. GO annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS10.

Additional gene information for ADAMTS6 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS6 Gene

Genomics for ADAMTS6 Gene

Regulatory Elements for ADAMTS6 Gene

Enhancers for ADAMTS6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H065125 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +354.6 354568 4 PKNOX1 ZNF10 ZFP37 FEZF1 ZNF501 RAD21 ZNF843 ATF2 FOSL1 PRDM6 ADAMTS6 FAM159B ENSG00000207439 LOC100419140
GH05H065031 2.1 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +447.1 447144 7 HDGF PKNOX1 SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 FOS SP3 PPWD1 SREK1IP1 ADAMTS6 GC05M065036 ENSG00000272354
GH05H065059 1.4 Ensembl ENCODE dbSUPER 5.5 +420.5 420485 4 RB1 ZSCAN5C FOS ATF7 ETV6 RUNX3 CREM IKZF2 SMAD5 CBFB TRAPPC13 PPWD1 ADAMTS6 GC05M065036 GC05P065124
GH05H064811 0.7 Ensembl 10.8 +670.8 670827 0.4 CTCF ZNF654 CEBPB TRIM22 CEBPG REST RAD21 GATA3 GATA2 ZNF143 ADAMTS6 GC05P064823 CWC27
GH05H065196 1.6 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +278.0 278010 14.4 FOXA2 JUN RFX5 POLR2A RCOR1 FOS RUNX3 IKZF2 EGR2 SCRT1 TRAPPC13 CENPK ADAMTS6 LOC100419140 ENSG00000207439
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181592 427 4001 PKNOX1 FOXA2 SIN3A FEZF1 DMAP1 ZNF2 YY1 FOS SP3 MXD4

Genomic Locations for ADAMTS6 Gene

Genomic Locations for ADAMTS6 Gene
333,292 bases
Minus strand

Genomic View for ADAMTS6 Gene

Genes around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS6 Gene

Proteins for ADAMTS6 Gene

  • Protein details for ADAMTS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 6
    Protein Accession:
    Secondary Accessions:
    • Q59EX6
    • Q5IR87
    • Q5IR88
    • Q5IR89
    • Q68DL1

    Protein attributes for ADAMTS6 Gene

    1117 amino acids
    Molecular mass:
    125273 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS6 Gene


neXtProt entry for ADAMTS6 Gene

Selected DME Specific Peptides for ADAMTS6 Gene


Post-translational modifications for ADAMTS6 Gene

  • 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).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn99, Asn172, Asn222, Asn234, Asn724, and posLast=956956
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS6 Gene

Gene Families for ADAMTS6 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADAMTS6 Gene

Graphical View of Domain Structure for InterPro Entry



  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
genes like me logo Genes that share domains with ADAMTS6: view

Function for ADAMTS6 Gene

Molecular function for ADAMTS6 Gene

GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 6,expressed in the periimplantation period in mouse embryo and adult tissues,extracellular matrix protein
UniProtKB/Swiss-Prot Induction:
Isoform 1 and isoform 2 expressions are up-regulated by TNF in retinal pigment epithelial cells.

Enzyme Numbers (IUBMB) for ADAMTS6 Gene

Phenotypes From GWAS Catalog for ADAMTS6 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10464288
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view
genes like me logo Genes that share phenotypes with ADAMTS6: view

Animal Model Products

miRNA for ADAMTS6 Gene

miRTarBase miRNAs that target ADAMTS6

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS6 Gene

Localization for ADAMTS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS6 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTS6 gene
Compartment Confidence
extracellular 4
plasma membrane 3
nucleus 3
cytosol 1

Gene Ontology (GO) - Cellular Components for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS6 Gene

Pathways & Interactions for ADAMTS6 Gene

genes like me logo Genes that share pathways with ADAMTS6: view

Gene Ontology (GO) - Biological Process for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view

No data available for SIGNOR curated interactions for ADAMTS6 Gene

Drugs & Compounds for ADAMTS6 Gene

No Compound Related Data Available

Transcripts for ADAMTS6 Gene

Unigene Clusters for ADAMTS6 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS6 Gene

No ASD Table

Relevant External Links for ADAMTS6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTS6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS6 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS6 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTS6 Gene:


mRNA Expression by UniProt/SwissProt for ADAMTS6 Gene:

Tissue specificity: Expressed at low levels in placenta and barely detectable in a number of other tissues.

Evidence on tissue expression from TISSUES for ADAMTS6 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with ADAMTS6: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS6 Gene

Orthologs for ADAMTS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTS6 33 34
  • 99.7 (n)
(Monodelphis domestica)
Mammalia ADAMTS6 34
  • 96 (a)
(Bos Taurus)
Mammalia ADAMTS6 33 34
  • 95.88 (n)
(Canis familiaris)
Mammalia ADAMTS6 33 34
  • 95.88 (n)
(Mus musculus)
Mammalia Adamts6 33 16 34
  • 92.84 (n)
(Rattus norvegicus)
Mammalia Adamts6 33
  • 92.18 (n)
(Ornithorhynchus anatinus)
Mammalia ADAMTS6 34
  • 89 (a)
(Gallus gallus)
Aves ADAMTS6 33 34
  • 87.44 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts6 33
  • 81.56 (n)
(Danio rerio)
Actinopterygii adamts6 33 34
  • 75.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14869 34
  • 19 (a)
(Caenorhabditis elegans)
Secernentea gon-1 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
Species where no ortholog for ADAMTS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAMTS6 Gene

Gene Tree for ADAMTS6 (if available)
Gene Tree for ADAMTS6 (if available)

Paralogs for ADAMTS6 Gene

genes like me logo Genes that share paralogs with ADAMTS6: view

Variants for ADAMTS6 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000001800 -- 65,423,603(+) AGCCT(A/G)TGTAA intron-variant
rs1000012046 -- 65,336,145(+) AAACC(A/G)TGAGT intron-variant, upstream-variant-2KB
rs1000014382 -- 65,448,137(+) TAATA(C/T)ATATA intron-variant
rs1000016559 -- 65,302,687(+) ATAAA(G/T)ACCTC intron-variant
rs1000018503 -- 65,310,067(+) AGTGA(A/G)TGAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS6 Gene

Variant ID Type Subtype PubMed ID
nsv980650 CNV duplication 23825009
nsv968184 CNV duplication 23825009
nsv830325 CNV gain 17160897
nsv512852 CNV insertion 21212237
nsv4863 CNV insertion 18451855
nsv477387 CNV novel sequence insertion 20440878
nsv474000 CNV novel sequence insertion 20440878
nsv1115692 CNV duplication 24896259
nsv1073887 CNV deletion 25765185
esv8314 CNV gain 19470904
esv3605301 CNV loss 21293372
esv3605300 CNV loss 21293372
esv3605299 CNV loss 21293372
esv3566027 CNV deletion 23714750
esv3566025 CNV deletion 23714750
esv3431828 CNV duplication 20981092
esv3375527 CNV duplication 20981092
esv3347526 CNV insertion 20981092
esv2730276 CNV deletion 23290073
esv2730275 CNV deletion 23290073
esv26770 CNV loss 19812545
esv2672410 CNV deletion 23128226
dgv5693n100 CNV gain 25217958

Variation tolerance for ADAMTS6 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS6 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS6 Gene

Disorders for ADAMTS6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAMTS6 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
inguinal hernia
  • hernia inguinal
weill-marchesani syndrome
  • congenital mesodermal dystrophy
coffin-siris syndrome 1
  • coffin-siris syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADAMTS6

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ADAMTS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS6 Gene

Publications for ADAMTS6 Gene

  1. ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family. (PMID: 10464288) Hurskainen TL … Apte SS (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control. (PMID: 16129570) Bevitt DJ … McKie N (Gene 2005) 3 4 22 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha. (PMID: 12697333) Bevitt DJ … McKie N (Biochimica et biophysica acta 2003) 4 22 60
  5. The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. (PMID: 26025392) Kelwick R … Edwards DR (Genome biology 2015) 3 60

Products for ADAMTS6 Gene

Sources for ADAMTS6 Gene

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