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Aliases for ADAMTS12 Gene

Aliases for ADAMTS12 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 12 2 3
  • ADAM-TS 12 3 4
  • ADAM-TS12 3 4
  • ADAMTS-12 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 12 3
  • EC 3.4.24.- 4
  • PRO4389 3

External Ids for ADAMTS12 Gene

Previous GeneCards Identifiers for ADAMTS12 Gene

  • GC05M033471
  • GC05M033973
  • GC05M033572
  • GC05M033563
  • GC05M033495

Summaries for ADAMTS12 Gene

Entrez Gene Summary for ADAMTS12 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-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAMTS12 Gene

ADAMTS12 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS7.

UniProtKB/Swiss-Prot for ADAMTS12 Gene

  • Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties.

Gene Wiki entry for ADAMTS12 Gene

Additional gene information for ADAMTS12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS12 Gene

Genomics for ADAMTS12 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS12 Gene

Promoters and enhancers for ADAMTS12 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J033888 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.7 +1.1 1074 5 FOXA2 NFIA RXRA REST ZIC2 FOXA1 NR2F2 SP1 ZNF335 JUND ADAMTS12 GC05M033888 RNU6-923P
GH05J033823 Enhancer 0.8 ENCODE dbSUPER 35.5 +67.4 67385 1.6 ZNF687 IKZF1 ZBED1 ZNF143 ELF1 IKZF2 RUNX3 SPI1 ADAMTS12 RNU6-923P PIR33064 ST3GAL5P1
GH05J033787 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 18.8 +103.3 103293 2.9 JUND EBF1 FOS SPI1 ADAMTS12 RNU6-923P PIR33064 ST3GAL5P1
GH05J033806 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +83.3 83266 5.3 CTCF JUND JUN FOS HNF4A NR2F2 ADAMTS12 RAI14 PIR33064 ST3GAL5P1
GH05J033675 Enhancer 0.7 FANTOM5 10.6 +216.1 216061 0.4 BMI1 MEF2B ELF1 DPF2 BATF ATF2 RELA TARDBP IKZF1 EED RXFP3 ADAMTS12 RNU6-923P ST3GAL5P1 PIR33064
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS12 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • MyoD
  • Roaz
  • Pax-5
  • AML1a

Genomic Locations for ADAMTS12 Gene

Genomic Locations for ADAMTS12 Gene
368,660 bases
Minus strand
368,658 bases
Minus strand

Genomic View for ADAMTS12 Gene

Genes around ADAMTS12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS12 Gene

Proteins for ADAMTS12 Gene

  • Protein details for ADAMTS12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 12
    Protein Accession:
    Secondary Accessions:
    • A2RRN9
    • A5D6V6
    • Q6UWL3

    Protein attributes for ADAMTS12 Gene

    1594 amino acids
    Molecular mass:
    177676 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with COMP.

    Alternative splice isoforms for ADAMTS12 Gene


neXtProt entry for ADAMTS12 Gene

Post-translational modifications for ADAMTS12 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Subjected to an intracellular maturation process yielding a 120 kDa N-terminal fragment containing the metalloproteinase, disintegrin, one TSP type-1 and the Cys-rich domains and a 83 kDa C-terminal fragment containing the spacer 2 and four TSP type-1 domains.
  • 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).
  • Glycosylation at Asn1504, Asn1379, Asn1372, Asn1321, posLast=13011301, Asn1276, Asn1105, posLast=952952, posLast=790790, Asn685, posLast=485485, posLast=215215, Asn125, and posLast=105105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ADAMTS12 Gene

Domains & Families for ADAMTS12 Gene

Gene Families for ADAMTS12 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADAMTS12 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.
  • The C-terminal four TSP1-like repeats are necessary and sufficient for binding COMP.
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
genes like me logo Genes that share domains with ADAMTS12: view

Function for ADAMTS12 Gene

Molecular function for ADAMTS12 Gene

UniProtKB/Swiss-Prot Function:
Metalloprotease that may play a role in the degradation of COMP. Cleaves also alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by alpha-2 macroglobulin.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is between 7.5 and 9.5 with COMP for substrate. {ECO:0000269 PubMed:16611630};
UniProtKB/Swiss-Prot Induction:
By IFN-alpha and by IL1B/interleukin-1 beta. Up-regulated in articular cartilage and synovium from arthritis patients. Up-regulared in chondrocytes.

Enzyme Numbers (IUBMB) for ADAMTS12 Gene

Phenotypes From GWAS Catalog for ADAMTS12 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 16611630
GO:0005515 protein binding IPI 16611630
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS12: view
genes like me logo Genes that share phenotypes with ADAMTS12: view

Animal Models for ADAMTS12 Gene

MGI Knock Outs for ADAMTS12:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS12

miRNA for ADAMTS12 Gene

miRTarBase miRNAs that target ADAMTS12

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTS12 Gene

Localization for ADAMTS12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS12 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 ADAMTS12 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IDA 11279086
genes like me logo Genes that share ontologies with ADAMTS12: view

Pathways & Interactions for ADAMTS12 Gene

genes like me logo Genes that share pathways with ADAMTS12: view

Gene Ontology (GO) - Biological Process for ADAMTS12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007160 cell-matrix adhesion IMP 21494557
GO:0016477 cell migration IMP 21494557
GO:0030167 proteoglycan catabolic process IDA 17895370
GO:0032331 negative regulation of chondrocyte differentiation IDA 22247065
genes like me logo Genes that share ontologies with ADAMTS12: view

No data available for SIGNOR curated interactions for ADAMTS12 Gene

Drugs & Compounds for ADAMTS12 Gene

No Compound Related Data Available

Transcripts for ADAMTS12 Gene

Unigene Clusters for ADAMTS12 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 12:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS12 Gene

No ASD Table

Relevant External Links for ADAMTS12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTS12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS12 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.3).

Protein differential expression in normal tissues from HIPED for ADAMTS12 Gene

This gene is overexpressed in Lung (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADAMTS12 Gene

Protein tissue co-expression partners for ADAMTS12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS12 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTS12 Gene:


mRNA Expression by UniProt/SwissProt for ADAMTS12 Gene:

Tissue specificity: Expressed in skeletal muscle and fat. Detected at significant levels in fetal lung. Widely expressed in gastric carcinomas and in cancer cells of diverse origin.

Evidence on tissue expression from TISSUES for ADAMTS12 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with ADAMTS12: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS12 Gene

Orthologs for ADAMTS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS12 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTS12 34 33
  • 99.22 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
-- 34
  • 75 (a)
-- 34
  • 62 (a)
(Bos Taurus)
Mammalia ADAMTS12 34 33
  • 86.59 (n)
(Canis familiaris)
Mammalia ADAMTS12 34 33
  • 85.9 (n)
(Rattus norvegicus)
Mammalia Adamts12 33
  • 82.79 (n)
(Mus musculus)
Mammalia Adamts12 16 34 33
  • 82.53 (n)
(Monodelphis domestica)
Mammalia ADAMTS12 34
  • 68 (a)
(Gallus gallus)
Aves ADAMTS12 34 33
  • 66.42 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
-- 34
  • 20 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts12 33
  • 61.89 (n)
(Danio rerio)
Actinopterygii LOC100003937 33
  • 57.88 (n)
  • 48 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4096 34 35
  • 35 (a)
CG3622 35
  • 27 (a)
stl 34
  • 21 (a)
(Caenorhabditis elegans)
Secernentea C37C3.6b 35
  • 35 (a)
C37C3.6a 35
  • 35 (a)
T19D2.1 35
  • 27 (a)
adt-1 34
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
Species where no ortholog for ADAMTS12 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)
  • 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 ADAMTS12 Gene

Gene Tree for ADAMTS12 (if available)
Gene Tree for ADAMTS12 (if available)
Evolutionary constrained regions (ECRs) for ADAMTS12: view image

Paralogs for ADAMTS12 Gene

(11) SIMAP similar genes for ADAMTS12 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ADAMTS12: view

Variants for ADAMTS12 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS12 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000012145 -- 33,544,543(-) T/C intron_variant
rs1000022271 -- 33,629,161(-) A/C intron_variant
rs1000041840 -- 33,829,355(-) T/A/G genic_upstream_transcript_variant, intron_variant
rs1000063725 -- 33,637,892(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000063814 -- 33,585,804(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS12 Gene

Variant ID Type Subtype PubMed ID
dgv1592e212 CNV loss 25503493
dgv22e24 CNV gain 17666407
dgv3071n106 CNV deletion 24896259
dgv5625n100 CNV gain 25217958
esv1004172 CNV insertion 20482838
esv1422494 CNV insertion 17803354
esv1490875 CNV insertion 17803354
esv2306417 CNV deletion 18987734
esv24231 CNV loss 19812545
esv26135 CNV gain 19812545
esv2623201 CNV deletion 19546169
esv2659139 CNV deletion 23128226
esv2730048 CNV deletion 23290073
esv2730049 CNV deletion 23290073
esv2730050 CNV deletion 23290073
esv2730052 CNV deletion 23290073
esv2759339 CNV loss 17122850
esv3067540 CNV deletion 24192839
esv32546 CNV gain 17666407
esv3305921 CNV mobile element insertion 20981092
esv3307335 CNV mobile element insertion 20981092
esv3308510 CNV mobile element insertion 20981092
esv3321595 CNV insertion 20981092
esv3330229 CNV duplication 20981092
esv33441 CNV gain 17666407
esv3356630 CNV insertion 20981092
esv3360891 CNV insertion 20981092
esv3364818 CNV insertion 20981092
esv3372752 CNV insertion 20981092
esv3408076 CNV insertion 20981092
esv3428745 CNV duplication 20981092
esv3443849 CNV insertion 20981092
esv3570062 CNV loss 25503493
esv3604646 CNV gain 21293372
esv3604656 CNV gain 21293372
esv3604660 CNV gain 21293372
esv3604662 CNV loss 21293372
esv3604665 CNV gain 21293372
esv3894171 CNV gain 25118596
esv3894172 CNV gain 25118596
esv989506 CNV deletion 20482838
nsv1030667 CNV gain 25217958
nsv1131887 CNV deletion 24896259
nsv1139834 CNV duplication 24896259
nsv1150783 CNV duplication 26484159
nsv327771 CNV deletion 16902084
nsv475823 CNV novel sequence insertion 20440878
nsv477308 CNV novel sequence insertion 20440878
nsv4780 CNV insertion 18451855
nsv4781 CNV insertion 18451855
nsv4782 CNV insertion 18451855
nsv509061 CNV insertion 20534489
nsv509966 OTHER sequence alteration 20534489
nsv522715 CNV gain 19592680
nsv525683 CNV loss 19592680
nsv818344 CNV loss 17921354
nsv830253 CNV loss 17160897
nsv830254 CNV loss 17160897

Variation tolerance for ADAMTS12 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.75; 78.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS12 Gene

Disorders for ADAMTS12 Gene

Additional Disease Information for ADAMTS12

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ADAMTS12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADAMTS12 Gene

Publications for ADAMTS12 Gene

  1. Inhibition of ADAMTS-7 and ADAMTS-12 degradation of cartilage oligomeric matrix protein by alpha-2-macroglobulin. (PMID: 18485748) Luan Y … Liu CJ (Osteoarthritis and cartilage 2008) 3 4 22 58
  2. Identification, characterization, and intracellular processing of ADAM-TS12, a novel human disintegrin with a complex structural organization involving multiple thrombospondin-1 repeats. (PMID: 11279086) Cal S … López-Otín C (The Journal of biological chemistry 2001) 2 3 4 58
  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 44 58
  4. Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 20400778) Morrison AC … Smith NL (Circulation. Cardiovascular genetics 2010) 3 44 58
  5. The role of ADAMTS-7 and ADAMTS-12 in the pathogenesis of arthritis. (PMID: 19098927) Liu CJ (Nature clinical practice. Rheumatology 2009) 3 22 58

Products for ADAMTS12 Gene

Sources for ADAMTS12 Gene

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