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 T... See more...

Aliases for ADAMTS8 Gene

Aliases for ADAMTS8 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8 2 3 5
  • ADAM-TS8 2 3 4
  • METH2 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 8 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 8 3 4
  • ADAMTS-8 3 4
  • METH-2 3 4
  • METH-8 3 4
  • EC 3.4.24.82 51
  • EC 3.4.24.14 51
  • EC 3.4.24.- 4
  • ADAM-TS 8 4
  • EC 3.4.24 51
  • FLJ41712 2
  • ADAMTS8 5

External Ids for ADAMTS8 Gene

Previous GeneCards Identifiers for ADAMTS8 Gene

  • GC11M132275
  • GC11M131787
  • GC11M129812
  • GC11M129780
  • GC11M126229

Summaries for ADAMTS8 Gene

Entrez Gene Summary for ADAMTS8 Gene

  • 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]

GeneCards Summary for ADAMTS8 Gene

ADAMTS8 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 8) is a Protein Coding gene. Diseases associated with ADAMTS8 include Keshan Disease and Colorectal Cancer, Hereditary Nonpolyposis, Type 2. Among its related pathways are Degradation of the extracellular matrix and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include heparin binding and integrin binding. An important paralog of this gene is ADAMTS1.

UniProtKB/Swiss-Prot Summary for ADAMTS8 Gene

Gene Wiki entry for ADAMTS8 Gene

Additional gene information for ADAMTS8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS8 Gene

Genomics for ADAMTS8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADAMTS8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J130429 Promoter/Enhancer 1.3 EPDnew Ensembl dbSUPER 600.7 +0.2 209 1.6 CTCF PRDM10 ZIC2 PATZ1 EZH2 ZNF341 ZBTB20 ZXDB ZBTB26 ZNF777 ADAMTS8 lnc-ADAMTS8-1 ZBTB44
GH11J130427 Enhancer 0.6 Ensembl dbSUPER 600.7 +1.3 1309 0.2 EZH2 POLR2A ZNF335 SMARCA4 ZNF362 ADAMTS8 lnc-ADAMTS8-1 ZBTB44
GH11J130159 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 9.4 +266.8 266771 5.7 GATAD2A IKZF1 LARP7 RXRB EZH2 GABPA GTF2F1 ZFX CEBPA KMT2B ST14 ADAMTS8 lnc-ZBTB44-1 ZBTB44
GH11J130824 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 -400.6 -400591 8.8 CTCF RFX1 JUND FOXA1 RELA ZIC2 RAD21 ZBTB44 SP1 DPF2 ENSG00000255455 SNX19 ADAMTS8 LINC02551 HSALNG0088249 ADAMTS15
GH11J130846 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 11.3 -419.3 -419315 3.5 PKNOX1 MNT SP1 JUND FOS JUN FOSL1 MAX EP300 FOSL2 LINC02551 SNX19 ADAMTS8 ADAMTS15 ENSG00000255455 HSALNG0088249
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS8

Top Transcription factor binding sites by QIAGEN in the ADAMTS8 gene promoter:
  • AML1a
  • ATF-2
  • C/EBPbeta
  • CUTL1
  • FOXO1
  • FOXO1a
  • Hlf

Genomic Locations for ADAMTS8 Gene

Genomic Locations for ADAMTS8 Gene
chr11:130,404,923-130,428,609
(GRCh38/hg38)
Size:
23,687 bases
Orientation:
Minus strand
chr11:130,274,818-130,298,888
(GRCh37/hg19)
Size:
24,071 bases
Orientation:
Minus strand

Genomic View for ADAMTS8 Gene

Genes around ADAMTS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS8 Gene

Proteins for ADAMTS8 Gene

  • Protein details for ADAMTS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UP79-ATS8_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 8
    Protein Accession:
    Q9UP79
    Secondary Accessions:
    • Q9NZS0

    Protein attributes for ADAMTS8 Gene

    Size:
    889 amino acids
    Molecular mass:
    96460 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for ADAMTS8 Gene

Selected DME Specific Peptides for ADAMTS8 Gene

Q9UP79:
  • CSRTCGGGV
  • SCSVIED
  • DKCGVCGG
  • GQCVKAGCD

Post-translational modifications for ADAMTS8 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Asn344, Asn400, Asn465, Asn490, and Asn599
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS8 Gene

Gene Families for ADAMTS8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ADAMTS8 Gene

InterPro:
Blocks:
  • Thrombospondin, type I
  • Disintegrin
  • Thrombospondin type 1 repeat signature
  • Metalloendopeptidase M12B
  • ADAM-TS Spacer 1
ProtoNet:

Suggested Antigen Peptide Sequences for ADAMTS8 Gene

GenScript: Design optimal peptide antigens:
  • METH-8 (ATS8_HUMAN)
  • ADAMTS8 protein (Q29RW5_HUMAN)
  • ADAMTS8 protein (Q5FWF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UP79

UniProtKB/Swiss-Prot:

ATS8_HUMAN :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Domain:
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
genes like me logo Genes that share domains with ADAMTS8: view

Function for ADAMTS8 Gene

Molecular function for ADAMTS8 Gene

UniProtKB/Swiss-Prot Function:
Has anti-angiogenic properties.

Enzyme Numbers (IUBMB) for ADAMTS8 Gene

Phenotypes From GWAS Catalog for ADAMTS8 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005178 integrin binding TAS 10438512
GO:0008201 heparin binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10438512
genes like me logo Genes that share ontologies with ADAMTS8: view
genes like me logo Genes that share phenotypes with ADAMTS8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS8

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS8

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS8 Gene

Localization for ADAMTS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS8 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTS8 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1
golgi apparatus 1
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for ADAMTS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IBA 21873635
GO:0062023 colocalizes_with collagen-containing extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with ADAMTS8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS8 Gene

Pathways & Interactions for ADAMTS8 Gene

genes like me logo Genes that share pathways with ADAMTS8: view

Gene Ontology (GO) - Biological Process for ADAMTS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008285 negative regulation of cell proliferation TAS 10438512
GO:0030198 extracellular matrix organization IBA 21873635
GO:0035435 phosphate ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with ADAMTS8: view

No data available for SIGNOR curated interactions for ADAMTS8 Gene

Drugs & Compounds for ADAMTS8 Gene

No Compound Related Data Available

Transcripts for ADAMTS8 Gene

mRNA/cDNA for ADAMTS8 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS8

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: - - -
SP2: - - - - - - - - -
SP3: -
SP4:

Relevant External Links for ADAMTS8 Gene

GeneLoc Exon Structure for
ADAMTS8

Expression for ADAMTS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS8 Gene

This gene is overexpressed in Lung (x8.5) and Artery - Aorta (x4.1).

Protein differential expression in normal tissues from HIPED for ADAMTS8 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS8 Gene



Protein tissue co-expression partners for ADAMTS8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTS8

SOURCE GeneReport for Unigene cluster for ADAMTS8 Gene:

Hs.271605

mRNA Expression by UniProt/SwissProt for ADAMTS8 Gene:

Q9UP79-ATS8_HUMAN
Tissue specificity: Highly expressed in adult and fetal lung, lower expression in brain, placenta, heart, stomach and fetal brain and kidney.

Evidence on tissue expression from TISSUES for ADAMTS8 Gene

  • Lung(4.5)
genes like me logo Genes that share expression patterns with ADAMTS8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS8 Gene

Orthologs for ADAMTS8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADAMTS8 30 31
  • 99.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADAMTS8 30 31
  • 88.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Adamts8 30 17 31
  • 83.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adamts8 30
  • 82.94 (n)
Cow
(Bos Taurus)
Mammalia ADAMTS8 30 31
  • 82.92 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS8 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ADAMTS8 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADAMTS8 30 31
  • 76.94 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADAMTS8 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adamts8 30
  • 58.75 (n)
Zebrafish
(Danio rerio)
Actinopterygii adamts8a 30 31
  • 61.77 (n)
OneToMany
adamts15b 31
  • 50 (a)
OneToMany
Species where no ortholog for ADAMTS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ADAMTS8 Gene

ENSEMBL:
Gene Tree for ADAMTS8 (if available)
TreeFam:
Gene Tree for ADAMTS8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS8: view image

Paralogs for ADAMTS8 Gene

(12) SIMAP similar genes for ADAMTS8 Gene using alignment to 3 proteins:

  • ATS8_HUMAN
  • Q29RW5_HUMAN
  • Q5FWF1_HUMAN
genes like me logo Genes that share paralogs with ADAMTS8: view

Variants for ADAMTS8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS8 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs199760382 Uncertain Significance: Oromandibular-limb hypogenesis spectrum 130,406,119(-) G/T NONSENSE

Additional dbSNP identifiers (rs#s) for ADAMTS8 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS8 Gene

Variant ID Type Subtype PubMed ID
esv2759871 CNV loss 17122850
nsv508660 CNV deletion 20534489
nsv550 CNV insertion 18451855

Variation tolerance for ADAMTS8 Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.82; 94.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS8 Gene

Disorders for ADAMTS8 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ADAMTS8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keshan disease
  • caused by deficiency of selenium in the diet
colorectal cancer, hereditary nonpolyposis, type 2
  • hnpcc2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ADAMTS8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS8 Gene

Publications for ADAMTS8 Gene

  1. METH-1, a human ortholog of ADAMTS-1, and METH-2 are members of a new family of proteins with angio-inhibitory activity. (PMID: 10438512) Vázquez F … Iruela-Arispe ML (The Journal of biological chemistry 1999) 2 3 4 23
  2. ADAM-TS8, a novel metalloprotease of the ADAM-TS family located on mouse chromosome 9 and human chromosome 11. (PMID: 10610729) Georgiadis KE … Apte SS (Genomics 1999) 3 4 23
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41
  4. ADAMTS-8 exhibits aggrecanase activity and is expressed in human articular cartilage. (PMID: 15296936) Collins-Racie LA … LaVallie ER (Matrix biology : journal of the International Society for Matrix Biology 2004) 3 23
  5. METH-2 silencing and promoter hypermethylation in NSCLC. (PMID: 15328519) Dunn JR … Liloglou T (British journal of cancer 2004) 3 23

Products for ADAMTS8 Gene

  • Signalway ELISA kits for ADAMTS8
  • Signalway Proteins for ADAMTS8

Sources for ADAMTS8 Gene