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ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 [ Homo sapiens (human) ]

Gene ID: 170692, updated on 5-Mar-2024

Summary

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Official Symbol
ADAMTS18provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 18provided by HGNC
Primary source
HGNC:HGNC:17110
See related
Ensembl:ENSG00000140873 MIM:607512; AllianceGenome:HGNC:17110
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
KNO2; MMCAT; ADAMTS21
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
Expression
Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue See more
Orthologs
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Genomic context

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See ADAMTS18 in Genome Data Viewer
Location:
16q23.1
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (77282128..77435034, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (83338334..83491167, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (77316025..77468931, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:77246135-77247108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11151 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45200 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45205 Neighboring gene synaptonemal complex central element protein 1 like Neighboring gene vomeronasal 2 receptor 10, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:77322970-77324169 Neighboring gene uncharacterized LOC124903727 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_45289 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:77341323-77342522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:77468627-77469127 Neighboring gene uncharacterized LOC105376775 Neighboring gene NANOG hESC enhancer GRCh37_chr16:77535256-77535757 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:77574962-77575540 Neighboring gene long intergenic non-protein coding RNA 2131

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
  • 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. Secreted protease ADAMTS18 in development and disease. Nie J, et al. Gene, 2023 Mar 30. PMID 36632911
  2. Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis. Mushimiyimana I, et al. Nucleic Acids Res, 2021 Aug 20. PMID 34320216, Free PMC Article
  3. Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma. Xu B, et al. Genes Genomics, 2021 Feb. PMID 33469885
  4. Inactivation of ADAMTS18 by aberrant promoter hypermethylation contribute to lung cancer progression. Zhang Y, et al. J Cell Physiol, 2019 May. PMID 30417422
  5. Downregulation of ADAMTS18 May Serve as a Poor Prognostic Biomarker for Cervical Cancer Patients. Zhang L, et al. Appl Immunohistochem Mol Morphol, 2018 Oct. PMID 28362704

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
    Title: [A family with developmental glaucoma and microcornea due to novel ADAMTS18 gene mutations].
  2. Secreted protease ADAMTS18 in development and disease.
    Title: Secreted protease ADAMTS18 in development and disease.
  3. Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma.
    Title: Aberrant methylation of the 16q23.1 tumor suppressor gene ADAMTS18 promotes tumorigenesis and progression of clear cell renal cell carcinoma.
  4. Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis.
    Title: Characterization of a functional endothelial super-enhancer that regulates ADAMTS18 and angiogenesis.
  5. Adamts18 links luminal hormone receptor signaling to basement membrane remodeling and stem cell activation.
    Title: The secreted protease Adamts18 links hormone action to activation of the mammary stem cell niche.
  6. ADAMTS18 promoter methylation is a potential epigenetic biomarker.
    Title: Inactivation of ADAMTS18 by aberrant promoter hypermethylation contribute to lung cancer progression.
  7. study suggests that ADAMTS18 is downregulated in cervical cancer and ADAMTS18 may serve as a potential prognostic biomarker for cervical cancer.
    Title: Downregulation of ADAMTS18 May Serve as a Poor Prognostic Biomarker for Cervical Cancer Patients.
  8. In summary, we demonstrate that ADAMTS18 silencing in breast cancer is significantly correlated with promoter CpG methylation. ADAMTS18 acts as an antagonist of AKT and NF-kappaB signaling, further suppressing EMT and metastasis of breast cancer cells.
    Title: Epigenetic silencing of ADAMTS18 promotes cell migration and invasion of breast cancer through AKT and NF-κB signaling.
  9. This study showed that ADAMTS1, 8, and 18 are highly expressed in GC and its nodal metastases, suggesting important roles of these proteases in carcinogenesis and lymphatic metastasis. The findings from the present study indicate that these proteases may be promising candidates for novel and alternative treatments in GC (gastric cancer)
    Title: Differentially regulated ADAMTS1, 8, and 18 in gastric adenocarcinoma.
  10. Studies suggest that ADAM metallopeptidase with thrombospondin type 1 motif, 18 protein (ADAMTS-18) as a promising diagnostic and therapeutic target.
    Title: ADAMTS-18: a metalloproteinase with multiple functions.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

Associated conditions

Description Tests
Microcornea-myopic chorioretinal atrophy
MedGen: C3809567 OMIM: 615458 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity.
EBI GWAS Catalog
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
EBI GWAS Catalog
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
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

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
  
Process Evidence Code Pubs
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within negative regulation of platelet aggregation IDA
Inferred from Direct Assay
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
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 18
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 21
disintegrin and metalloprotease-like protein

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.

Genomic

  1. NG_031879.2 RefSeqGene

    Range
    5081..157987
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001326358.2 → NP_001313287.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes isoform 3. The encoded isoform (3) lacks a predicted signal peptide and a portion of the propeptide compared to isoform 1.
    Source sequence(s)
    AC009139, AC010548, AC025284, BM684970
    Conserved Domains (5) summary
    smart00209
    Location:420 → 471
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:121 → 322
    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:123 → 326
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam05986
    Location:577 → 689
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1016 → 1046
    PLAC; PLAC (protease and lacunin) domain

  2. NM_199355.4 → NP_955387.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_955387.1

    Status: REVIEWED

    Source sequence(s)
    AC009139, AC010548, AJ311903, AK131403, AY172951, BC063283, BM684970
    Consensus CDS
    CCDS10926.1
    UniProtKB/Swiss-Prot
    Q6P4R5, Q6ZWJ9, Q8TE60
    Related
    ENSP00000282849.5, ENST00000282849.10
    Conserved Domains (6) summary
    smart00209
    Location:592 → 643
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:293 → 494
    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:295 → 498
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:86 → 202
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:749 → 861
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:1188 → 1218
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    77282128..77435034 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433672.1 → XP_047289628.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X1

  2. XM_047433673.1 → XP_047289629.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    83338334..83491167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379712.1 → XP_054235687.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X1

  2. XM_054379713.1 → XP_054235688.1  A disintegrin and metalloproteinase with thrombospondin motifs 18 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139054.2: Suppressed sequence

    Description
    NM_139054.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TE60.3 GenPept UniProtKB/Swiss-Prot:Q8TE60

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