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    ADAMTS8 ADAM metallopeptidase with thrombospondin type 1 motif 8 [ Homo sapiens (human) ]

    Gene ID: 11095, updated on 9-Dec-2024

    Summary

    Official Symbol
    ADAMTS8provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 8provided by HGNC
    Primary source
    HGNC:HGNC:224
    See related
    Ensembl:ENSG00000134917 MIM:605175; AllianceGenome:HGNC:224
    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
    METH2; ADAM-TS8
    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) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
    Expression
    Biased expression in lung (RPKM 12.6), appendix (RPKM 7.0) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ADAMTS8 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (130404923..130428609, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (130440731..130464423, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (130274818..130298504, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4081 Neighboring gene RNA, 7SL, cytoplasmic 778, pseudogene Neighboring gene ZBTB44 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr11:130240792-130241293 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:130248135-130248650 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:130253373-130253917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130289647-130290148 Neighboring gene NANOG hESC enhancer GRCh37_chr11:130321509-130322010 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:130347582-130348781 Neighboring gene NANOG hESC enhancer GRCh37_chr11:130378843-130379344 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:130381109-130382308 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:130386937-130387456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:130389783-130390284 Neighboring gene uncharacterized LOC105369574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:130392807-130393434

    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
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41712

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables integrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables low-affinity phosphate transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inorganic anion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    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 8
    Names
    ADAMTS-8
    METH-2
    METH-8
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8

    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.

    Genomic

    1. NG_052870.1 RefSeqGene

      Range
      5385..29071
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_007037.6NP_008968.4  A disintegrin and metalloproteinase with thrombospondin motifs 8 preproprotein

      See identical proteins and their annotated locations for NP_008968.4

      Status: REVIEWED

      Source sequence(s)
      AF060153, AP002986, BC089435, BX424609
      Consensus CDS
      CCDS41732.1
      UniProtKB/Swiss-Prot
      Q9NZS0, Q9UP79
      UniProtKB/TrEMBL
      Q5FWF1
      Related
      ENSP00000257359.6, ENST00000257359.7
      Conserved Domains (6) summary
      smart00209
      Location:529581
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:219426
      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:219429
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:50150
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:690809
      ADAM_spacer1; ADAM-TS Spacer 1
      cl15456
      Location:448514
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      130404923..130428609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017145.2XP_016872634.1  A disintegrin and metalloproteinase with thrombospondin motifs 8 isoform X1

      UniProtKB/TrEMBL
      Q5FWF1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      130440731..130464423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367535.1XP_054223510.1  A disintegrin and metalloproteinase with thrombospondin motifs 8 isoform X1

      UniProtKB/TrEMBL
      Q5FWF1