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

    Gene ID: 81792, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001324511.2NP_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:53195
      Pep_M12B_propep; Reprolysin family propeptide
    2. NM_001324512.2NP_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_030955.4NP_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:545596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:246453
      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:246456
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:80194
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:702813
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:515676
      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_017009905.2XP_016865394.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X1

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

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

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

    5. XM_017009909.2XP_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_054353581.1XP_054209556.1  A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform X1

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

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

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

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