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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
  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 12 3
  • EC 3.4.24.82 63
  • EC 3.4.24.- 4
  • EC 3.4.24 63
  • 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 Infectious disease and Diseases associated with O-glycosylation of proteins. GO annotations related to this gene include peptidase activity and metalloendopeptidase activity. An important paralog of this gene is ADAMTS20.

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

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

Genomics for ADAMTS12 Gene

Regulatory Elements for ADAMTS12 Gene

Enhancers for ADAMTS12 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADAMTS12 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADAMTS12 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTS12 Gene

Chromosome:
5
Start:
33,523,535 bp from pter
End:
33,892,194 bp from pter
Size:
368,660 bases
Orientation:
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:
    P58397-ATS12_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 12
    Protein Accession:
    P58397
    Secondary Accessions:
    • A2RRN9
    • A5D6V6
    • Q6UWL3

    Protein attributes for ADAMTS12 Gene

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

    Alternative splice isoforms for ADAMTS12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS12 Gene

Proteomics data for ADAMTS12 Gene at MOPED

Selected DME Specific Peptides for ADAMTS12 Gene

Post-translational modifications for ADAMTS12 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).
  • 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.
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn 105, Asn 125, Asn 215, Asn 485, Asn 685, Asn 790, Asn 952, Asn 1105, Asn 1276, Asn 1301, Asn 1321, Asn 1372, Asn 1379, and Asn 1504
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS12 Gene

Gene Families for ADAMTS12 Gene

Suggested Antigen Peptide Sequences for ADAMTS12 Gene

Graphical View of Domain Structure for InterPro Entry

P58397

UniProtKB/Swiss-Prot:

ATS12_HUMAN :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Domain:
  • 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.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 PLAC domain.
  • Contains 8 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTS12: view

Function for ADAMTS12 Gene

Molecular function for ADAMTS12 Gene

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 EnzymeRegulation:
Inhibited by alpha-2 macroglobulin.
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 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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ADAMTS12 Gene COMPARTMENTS Subcellular localization image for ADAMTS12 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytosol 1
mitochondrion 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ADAMTS12 Gene

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:0016477 cell migration IMP 21494557
GO:0030167 proteoglycan catabolic process IDA 17895370
GO:0050727 regulation of inflammatory response IDA 23019333
GO:0051603 proteolysis involved in cellular protein catabolic process IMP 18485748
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:

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

No ASD Table

Relevant External Links for ADAMTS12 Gene

GeneLoc Exon Structure for
ADAMTS12
ECgene alternative splicing isoforms for
ADAMTS12

Expression for ADAMTS12 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for ADAMTS12 Gene



SOURCE GeneReport for Unigene cluster for ADAMTS12 Gene Hs.12680

mRNA Expression by UniProt/SwissProt for ADAMTS12 Gene

P58397-ATS12_HUMAN
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.
genes like me logo Genes that share expression patterns with ADAMTS12: view

Protein tissue co-expression partners for ADAMTS12 Gene

Primer Products

Orthologs for ADAMTS12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS12 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADAMTS12 35
  • 86.59 (n)
  • 84.41 (a)
ADAMTS12 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTS12 35
  • 85.9 (n)
  • 85.12 (a)
ADAMTS12 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts12 35
  • 82.53 (n)
  • 81.07 (a)
Adamts12 16
Adamts12 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS12 35
  • 99.22 (n)
  • 98.92 (a)
ADAMTS12 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts12 35
  • 82.79 (n)
  • 81.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS12 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves ADAMTS12 35
  • 66.42 (n)
  • 62.68 (a)
ADAMTS12 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 30 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts12 35
  • 61.89 (n)
  • 59.31 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100003937 35
  • 57.88 (n)
  • 52.31 (a)
ADAMTS12 36
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3622 37
  • 27 (a)
CG4096 37
  • 39 (a)
CG4096 36
  • 35 (a)
ManyToMany
stl 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 37
  • 35 (a)
C37C3.6b 37
  • 35 (a)
T19D2.1 37
  • 27 (a)
adt-1 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for ADAMTS12:
  • 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

ENSEMBL:
Gene Tree for ADAMTS12 (if available)
TreeFam:
Gene Tree for ADAMTS12 (if available)

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 Sequence Context AA Info Type
rs16891862 - 33,881,280(+) TCCTT(A/C/G)ATTGA reference, missense
rs13362345 - 33,577,027(+) CTCTC(A/C/T)GGCTA reference, missense
rs25754 - 33,534,955(+) GGACA(A/G)TCCTC reference, missense
rs3813474 - 33,576,497(+) GGTCC(A/G)TATTA reference, missense
rs16891281 - 33,527,202(+) TTTTG(A/G)CTTTT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv522715 CNV Gain 19592680
nsv830253 CNV Loss 17160897
nsv818344 CNV Loss 17921354
dgv1793e1 CNV Complex 17122850
nsv525683 CNV Loss 19592680
esv26135 CNV Gain 19812545
nsv4780 CNV Insertion 18451855
esv2659139 CNV Deletion 23128226
nsv509061 CNV Insertion 20534489
esv1004172 CNV Insertion 20482838
esv272783 CNV Insertion 20981092
esv271611 CNV Insertion 20981092
esv1490875 CNV Insertion 17803354
nsv509966 CNV Loss 20534489
esv2730048 CNV Deletion 23290073
esv2306417 CNV Deletion 18987734
esv2730049 CNV Deletion 23290073
esv2623201 CNV Deletion 19546169
nsv327771 CNV Loss 16902084
esv2730050 CNV Deletion 23290073
esv24231 CNV Loss 19812545
esv989506 CNV Deletion 20482838
nsv830254 CNV Loss 17160897
nsv4781 CNV Insertion 18451855
esv268005 CNV Insertion 20981092
esv273639 CNV Insertion 20981092
esv2730052 CNV Deletion 23290073
nsv4782 CNV Insertion 18451855
dgv22e24 CNV Gain 17666407
esv270198 CNV Insertion 20981092
esv33441 CNV Gain 17666407
esv1422494 CNV Insertion 17803354
esv32546 CNV Gain 17666407

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ADAMTS12 Gene

Disorders for ADAMTS12 Gene

Relevant External Links for ADAMTS12

Genetic Association Database (GAD)
ADAMTS12
Human Genome Epidemiology (HuGE) Navigator
ADAMTS12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS12

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. 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. … Lopez-Otin C. (J. Biol. Chem. 2001) 2 3 4 67
  2. The role of ADAMTS-7 and ADAMTS-12 in the pathogenesis of arthritis. (PMID: 19098927) Liu C.J. (Nat Clin Pract Rheumatol 2009) 3 23
  3. Regulation of chondrocyte differentiation by ADAMTS-12 metalloproteinase depends on its enzymatic activity. (PMID: 19151918) Bai X.H. … Liu C.J. (Cell. Mol. Life Sci. 2009) 3 23
  4. Inhibition of ADAMTS-7 and ADAMTS-12 degradation of cartilage oligomeric matrix protein by alpha-2-macroglobulin. (PMID: 18485748) Luan Y. … Liu C.-J. (Osteoarthritis Cartilage 2008) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for ADAMTS12 Gene

Sources for ADAMTS12 Gene

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