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    ADAMTS12 ADAM metallopeptidase with thrombospondin type 1 motif 12 [ Homo sapiens (human) ]

    Gene ID: 81792, updated on 13-Nov-2024

    Summary

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    Official Symbol
    ADAMTS12provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 12provided by HGNC
    Primary source
    HGNC:HGNC:14605
    See related
    Ensembl:ENSG00000151388 MIM:606184; AllianceGenome:HGNC:14605
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRO4389
    Summary
    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]
    Expression
    Broad expression in fat (RPKM 3.5), gall bladder (RPKM 2.0) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAMTS12 in Genome Data Viewer
    Location:
    5p13.3-p13.2
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (33523535..33891990, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (33638143..34013900, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (33523640..33892095, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374717 Neighboring gene TOMM40 pseudogene 3 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:33576148-33577347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15963 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:33604013-33605212 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:33612245-33613444 Neighboring gene ST3GAL5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22456 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:33788320-33789519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33850007-33850508 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33891377-33891878 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:33891879-33892378 Neighboring gene RNA, U6 small nuclear 923, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:33931143-33931648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944338-33944838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:33944839-33945339 Neighboring gene solute carrier family 45 member 2 Neighboring gene relaxin family peptide receptor 3 Neighboring gene proteasome 26S subunit, ATPase, 6 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Regulation of chondrocyte differentiation by ADAMTS-12 metalloproteinase depends on its enzymatic activity. Bai XH, et al. Cell Mol Life Sci, 2009 Feb. PMID 19151918, Free PMC Article
    2. Expression of ADAMTS12 in colorectal cancer-associated stroma prevents cancer development and is a good prognostic indicator of colorectal cancer. Wang D, et al. Dig Dis Sci, 2011 Nov. PMID 21559743
    3. Genetic variations in the ADAMTS12 gene are associated with schizophrenia in Puerto Rican patients of Spanish descent. Bespalova IN, et al. Neuromolecular Med, 2012 Mar. PMID 22322903
    4. Association of ADAMTS12 polymorphisms with rheumatoid arthritis. Nah SS, et al. Mol Med Rep, 2012 Jul. PMID 22505177
    5. The ADAMTS12 metalloprotease gene is epigenetically silenced in tumor cells and transcriptionally activated in the stroma during progression of colon cancer. Moncada-Pazos A, et al. J Cell Sci, 2009 Aug 15. PMID 19638407

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADAMTS12 promotes fibrosis by restructuring extracellular matrix to enable activation of injury-responsive fibroblasts.
      Title: ADAMTS12 promotes fibrosis by restructuring extracellular matrix to enable activation of injury-responsive fibroblasts.
    2. ADAMTS12 acts as a tumor microenvironment related cancer promoter in gastric cancer.
      Title: ADAMTS12 acts as a tumor microenvironment related cancer promoter in gastric cancer.
    3. ADAMTS12 is a stromal modulator in chronic liver disease.
      Title: ADAMTS12 is a stromal modulator in chronic liver disease.
    4. ADAMTS12 promotes oxaliplatin chemoresistance and angiogenesis in gastric cancer through VEGF upregulation.
      Title: ADAMTS12 promotes oxaliplatin chemoresistance and angiogenesis in gastric cancer through VEGF upregulation.
    5. MicroRNA-186 suppresses cell proliferation and metastasis in bladder cancer.
      Title: MicroRNA-186 suppresses cell proliferation and metastasis in bladder cancer.
    6. ADAMTS12 promotes migration and epithelial-mesenchymal transition and predicts poor prognosis for pancreatic cancer.
      Title: ADAMTS12 promotes migration and epithelial-mesenchymal transition and predicts poor prognosis for pancreatic cancer.
    7. Promoter Methylation of PRKCB, ADAMTS12, and NAALAD2 Is Specific to Prostate Cancer and Predicts Biochemical Disease Recurrence.
      Title: Promoter Methylation of PRKCB, ADAMTS12, and NAALAD2 Is Specific to Prostate Cancer and Predicts Biochemical Disease Recurrence.
    8. ADAMTS 1, 4, 12, and 13 levels in the maternal and cord blood were lower in the preeclampsia group than in the control group. ADAMTS 1, 4, and 12 levels in placental tissues were higher in the preeclampsia group.
      Title: ADAMTS 1, 4, 12, and 13 levels in maternal blood, cord blood, and placenta in preeclampsia.
    9. ADAMTS12 expression is significantly upregulated in human masticatory mucosa during wound healing
      Title: Human gingiva transcriptome during wound healing.
    10. Decreased levels of ADAMTS-12 were found to be associated with intrahepatic cholestasis of pregnancy.
      Title: Placental ADAMTS-12 Levels in the Pathogenesis of Preeclampsia and Intrahepatic Cholestasis of Pregnancy.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
    EBI GWAS Catalog
    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.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to BMP stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to interleukin-1 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to tumor necrosis factor IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of cellular response to hepatocyte growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cellular response to vascular endothelial growth factor stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of chondrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of hepatocyte growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ossification involved in bone maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteoglycan catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis involved in protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis involved in protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of endothelial tube morphogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 12
    Names
    ADAM-TS 12
    ADAM-TS12
    ADAMTS-12
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001324511.2 → NP_001311440.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform 2. The encoded isoform (2) lacks the furin cleavage site, a portion of the propeptide and most conserved domains compared to isoform 1.
      Source sequence(s)
      AC008880, BC139900, BG108002, BQ774480, N93301
      Consensus CDS
      CCDS87292.1
      UniProtKB/TrEMBL
      D6REX0
      Related
      ENSP00000421638.1, ENST00000515401.1
      Conserved Domains (1) summary
      pfam01562
      Location:53 → 195
      Pep_M12B_propep; Reprolysin family propeptide

    2. NM_001324512.2 → NP_001311441.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes isoform 3. The encoded isoform (3) may undergo proteolytic processing.
      Source sequence(s)
      AC034232, BC131733, BG108002, CA413137
      Consensus CDS
      CCDS87293.1
      UniProtKB/Swiss-Prot
      P58397
      Related
      ENSP00000344847.3, ENST00000352040.7

    3. NM_030955.4 → NP_112217.2  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_112217.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC034232, AJ250725, AW938686, AY358745, BC058841, CA413137
      Consensus CDS
      CCDS34140.1
      UniProtKB/Swiss-Prot
      A2RRN9, A5D6V6, P58397, Q6UWL3
      Related
      ENSP00000422554.1, ENST00000504830.6
      Conserved Domains (6) summary
      smart00209
      Location:545 → 596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:246 → 453
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:246 → 456
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:80 → 194
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:702 → 813
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:515 → 676
      ADAM_CR; ADAM cysteine-rich

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      33523535..33891990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009905.2 → XP_016865394.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X1

    2. XM_017009906.1 → XP_016865395.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X2

    3. XM_017009907.1 → XP_016865396.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X3

    4. XM_017009908.1 → XP_016865397.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X4

    5. XM_017009909.2 → XP_016865398.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187551.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      82443..93312 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      33638143..34013900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353581.1 → XP_054209556.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X1

    2. XM_054353582.1 → XP_054209557.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X2

    3. XM_054353583.1 → XP_054209558.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X3

    4. XM_054353584.1 → XP_054209559.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X4

    5. XM_054353585.1 → XP_054209560.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58397.2 GenPept UniProtKB/Swiss-Prot:P58397

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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