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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 3.4.24.82 61
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • 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-glycosylation of TSR domain-containing proteins and Diseases of glycosylation. 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

No data available for CIViC summary , 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 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
GH05G033823 0.9 ENCODE dbSUPER 35.5 +67.4 67385 1.6 MTA2 ZBED1 BHLHE40 SUPT20H CBX5 IKZF1 EED ZNF143 ETV6 SPI1 ADAMTS12 RNU6-923P PIR33064 ST3GAL5P1
GH05G033787 1.2 FANTOM5 ENCODE dbSUPER 18.8 +103.3 103293 2.9 JUND BHLHE40 FOS EBF1 MAFK SPI1 NFE2L2 ADAMTS12 RNU6-923P PIR33064 ST3GAL5P1
GH05G033806 1.4 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +83.3 83266 5.3 CTCF JUND GATA2 JUN FOS HNF4A NR2F2 ADAMTS12 RAI14 PIR33064 ST3GAL5P1
GH05G033798 0.5 dbSUPER 17.9 +91.8 91836 3.5 CTCF ZBED1 RAD21 EP300 ADAMTS12 RNU6-923P RAI14 PIR33064 ST3GAL5P1
GH05G033842 0.8 ENCODE dbSUPER 10.7 +48.7 48748 1.2 JUND GATA2 JUN FOS RNU6-923P ADAMTS12 PIR33064 PIR46912
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000179262 494 1401 ZNF335 CTCF GLIS2 POLR2A GLIS1 RBBP5 ZIC2 SPI1
ENSR00000314389 1894 201 GATA3 BCL6 MAFK FOXA1

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

Selected DME Specific Peptides for ADAMTS12 Gene

P58397:
  • AHELGHSFGIQHDG
  • VETLVVAD
  • LRPFHCQ
  • CSRSCGGG
  • EDRCGVC
  • VWIQLLFQ
  • CHLRPCA

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 posLast=105105, Asn125, posLast=215215, posLast=485485, posLast=685685, Asn790, Asn952, Asn1105, Asn1276, posLast=13011301, Asn1321, posLast=13721372, posLast=13791379, and posLast=15041504
  • Modification sites at PhosphoSitePlus

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.
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

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:0008270 zinc ion binding 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

CRISPR Products

miRNA for ADAMTS12 Gene

miRTarBase miRNAs that target ADAMTS12

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for ADAMTS12 Gene

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

Transcripts for ADAMTS12 Gene

Unigene Clusters for ADAMTS12 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for ADAMTS12 Gene



Protein tissue co-expression partners for ADAMTS12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS12 Gene:

ADAMTS12

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.

Evidence on tissue expression from TISSUES for ADAMTS12 Gene

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS12 34 35
  • 99.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ADAMTS12 34 35
  • 86.59 (n)
dog
(Canis familiaris)
Mammalia ADAMTS12 34 35
  • 85.9 (n)
rat
(Rattus norvegicus)
Mammalia Adamts12 34
  • 82.79 (n)
mouse
(Mus musculus)
Mammalia Adamts12 34 16 35
  • 82.53 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS12 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS12 34 35
  • 66.42 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 30 (a)
ManyToMany
-- 35
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts12 34
  • 61.89 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100003937 34
  • 57.88 (n)
ADAMTS12 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4096 36 35
  • 39 (a)
CG3622 36
  • 27 (a)
stl 35
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C37C3.6a 36
  • 35 (a)
C37C3.6b 36
  • 35 (a)
T19D2.1 36
  • 27 (a)
adt-1 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
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

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
rs1000012145 -- 33,544,543(+) GAGCC(C/T)GCAGT intron-variant
rs1000022271 -- 33,629,161(+) AGTGA(A/C)TGTGA intron-variant
rs1000041840 -- 33,829,355(+) TTTTT(A/G/T)CCCTG intron-variant
rs1000063725 -- 33,637,892(+) TTTAC(A/G)CATTT intron-variant, upstream-variant-2KB
rs1000063814 -- 33,585,804(+) GGAAA(A/G)CCTGT 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)

Relevant External Links for ADAMTS12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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. 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 4 22 64
  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. … Lopez-Otin C. (J. Biol. Chem. 2001) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 A.C. … Smith N.L. (Circ Cardiovasc Genet 2010) 3 46 64
  5. The role of ADAMTS-7 and ADAMTS-12 in the pathogenesis of arthritis. (PMID: 19098927) Liu C.J. (Nat Clin Pract Rheumatol 2009) 3 22 64

Products for ADAMTS12 Gene

Sources for ADAMTS12 Gene

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