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ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 [ Homo sapiens (human) ]

Gene ID: 56999, updated on 2-Nov-2024

Summary

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Official Symbol
ADAMTS9provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 9provided by HGNC
Primary source
HGNC:HGNC:13202
See related
Ensembl:ENSG00000163638 MIM:605421; AllianceGenome:HGNC:13202
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
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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
Expression
Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues See more
Orthologs
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Genomic context

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See ADAMTS9 in Genome Data Viewer
Location:
3p14.1
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (64515654..64688000, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (64559268..64731664, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (64501330..64673676, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377123 Neighboring gene PRICKLE2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64474389-64475332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64475333-64476276 Neighboring gene MPRA-validated peak4681 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:64493024-64494223 Neighboring gene RNA, U6 small nuclear 739, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:64526487-64527686 Neighboring gene ADAMTS9 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:64582623-64583210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64627975-64628476 Neighboring gene NANOG hESC enhancer GRCh37_chr3:64663850-64664351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64670743-64671244 Neighboring gene ADAMTS9 antisense RNA 2 Neighboring gene uncharacterized LOC105377124 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:64930462-64931334 Neighboring gene MPRA-validated peak4685 silencer Neighboring gene uncharacterized LOC124909390

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. Association of Polymorphism rs67920064 in ADAMTS9 Gene with Mandibular Retrognathism in a Chinese Population. Wang C, et al. Med Sci Monit, 2020 Jun 30. PMID 32604397, Free PMC Article
  2. The 3p14.2 tumour suppressor ADAMTS9 is inactivated by promoter CpG methylation and inhibits tumour cell growth in breast cancer. Shao B, et al. J Cell Mol Med, 2018 Feb. PMID 29193730, Free PMC Article
  3. ADAMTS9 is Silenced by Epigenetic Disruption in Colorectal Cancer and Inhibits Cell Growth and Metastasis by Regulating Akt/p53 Signaling. Chen L, et al. Cell Physiol Biochem, 2017. PMID 29186710
  4. The ADAMTS9 gene is associated with cognitive aging in the elderly in a Taiwanese population. Lin E, et al. PLoS One, 2017. PMID 28225792, Free PMC Article
  5. Relationship between cytosine-adenine repeat polymorphism of ADAMTS9 gene and clinical and radiologic severity of knee osteoarthritis. Gok K, et al. Int J Rheum Dis, 2018 Apr. PMID 27230574

See all (102) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LncRNA ADAMTS9-AS2 regulates periodontal ligament cell migration under mechanical compression via ADAMTS9/fibronectin.
    Title: LncRNA ADAMTS9-AS2 regulates periodontal ligament cell migration under mechanical compression via ADAMTS9/fibronectin.
  2. Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
    Title: Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate.
  3. Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
    Title: Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability.
  4. Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
    Title: Differential gene expression of ADAMTS-1, ADAMTS-9 and TIMP-3 in periodontitis.
  5. LncRNA ADAMTS9-AS1 knockdown restricts cell proliferation and EMT in non-small cell lung cancer.
    Title: LncRNA ADAMTS9-AS1 knockdown restricts cell proliferation and EMT in non-small cell lung cancer.
  6. The use of pan-cancer analysis of ADAMTS9 expression in various cancer types.
    Title: The use of pan-cancer analysis of ADAMTS9 expression in various cancer types.
  7. DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
    Title: DNMT3A-mediated silence in ADAMTS9 expression is restored by RNF180 to inhibit viability and motility in gastric cancer cells.
  8. The utility of synovial fluid levels of ADAMTS9 and ADAMTS4 in predicting treatment responses to intraarticular steroid injections in patients with knee osteoarthritis
    Title: The utility of synovial fluid levels of ADAMTS9 and ADAMTS4 in predicting treatment responses to intraarticular steroid injections in patients with knee osteoarthritis.
  9. Association of Polymorphism rs67920064 in ADAMTS9 Gene with Mandibular Retrognathism in a Chinese Population.
    Title: Association of Polymorphism rs67920064 in ADAMTS9 Gene with Mandibular Retrognathism in a Chinese Population.
  10. Association Between Plasma ADAMTS-9 Levels and Severity of Coronary Artery Disease.
    Title: Association Between Plasma ADAMTS-9 Levels and Severity of Coronary Artery Disease.
Submit: New GeneRIF Correction See all GeneRIFs (65)

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
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study of liver enzymes in korean children.
EBI GWAS Catalog
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
EBI GWAS Catalog
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
EBI GWAS Catalog
Seven new loci associated with age-related macular degeneration.
EBI GWAS Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
EBI GWAS Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42955, KIAA1312

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metallopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cornea development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in endothelial cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
involved_in ventricular cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
  
colocalizes_with collagen-containing extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 9
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9

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_001318781.2 → NP_001305710.1  A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1. This isoform (4) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC096888, AC122178, AF488803, BC026271, BC171764
    Consensus CDS
    CCDS82801.1
    UniProtKB/Swiss-Prot
    Q9P2N4
    Related
    ENSP00000295903.4, ENST00000295903.8
    Conserved Domains (6) summary
    smart00209
    Location:563 → 614
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:293 → 468
    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:293 → 471
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:73 → 206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:725 → 843
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:1710 → 1906
    GON; GON domain

  2. NM_182920.2 → NP_891550.1  A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_891550.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB037733, AC122178, AF488803, BC026271, BC036770, BX482310, CD103111
    Consensus CDS
    CCDS2903.1
    UniProtKB/Swiss-Prot
    A1L4L0, B7ZVX9, B9ZVN0, Q9NR29, Q9P2N4
    Related
    ENSP00000418735.1, ENST00000498707.5
    Conserved Domains (6) summary
    smart00209
    Location:591 → 642
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:293 → 496
    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:293 → 499
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:73 → 206
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:753 → 871
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:1738 → 1934
    GON; GON domain

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    64515654..64688000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007095711.1 RNA Sequence

  2. XR_245151.1 RNA Sequence

  3. XR_007095712.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    64559268..64731664 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_008486756.1 RNA Sequence

  2. XR_008486755.1 RNA Sequence

  3. XR_008486757.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020249.2: Suppressed sequence

    Description
    NM_020249.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

  2. NM_182921.1: Suppressed sequence

    Description
    NM_182921.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2N4.4 GenPept UniProtKB/Swiss-Prot:Q9P2N4

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
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