The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this 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... See more...

Aliases for ADAMTS7 Gene

Aliases for ADAMTS7 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7 2 3 5
  • ADAM-TS7 2 3 4
  • COMPase 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 7 2 3
  • A Disintegrin And Metalloprotease With Thrombospondin Motifs-7 Preproprotein 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 7 3 4
  • ADAM-TS 7 3 4
  • ADAMTS-7 3 4
  • DKFZp434H204 2
  • EC 3.4.24.82 51
  • EC 3.4.24.- 4
  • EC 3.4.24 51
  • ADAMTS7 5

External Ids for ADAMTS7 Gene

Previous GeneCards Identifiers for ADAMTS7 Gene

  • GC15P074116
  • GC15M072142
  • GC15M076627
  • GC15M076767
  • GC15M076839
  • GC15M079051
  • GC15M055809

Summaries for ADAMTS7 Gene

Entrez Gene Summary for ADAMTS7 Gene

  • The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this 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 may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADAMTS7 Gene

ADAMTS7 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 7) is a Protein Coding gene. Diseases associated with ADAMTS7 include Peters-Plus Syndrome and Weill-Marchesani Syndrome. Among its related pathways are Metabolism of proteins and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS12.

UniProtKB/Swiss-Prot Summary for ADAMTS7 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS7 Gene

Genomics for ADAMTS7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADAMTS7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS7

Top Transcription factor binding sites by QIAGEN in the ADAMTS7 gene promoter:
  • AhR
  • Arnt
  • Cdc5
  • Elk-1
  • MAZR
  • NF-1
  • NF-1/L
  • Sox5
  • Sp1

Genomic Locations for ADAMTS7 Gene

Genomic Locations for ADAMTS7 Gene
chr15:78,759,203-78,811,476
(GRCh38/hg38)
Size:
52,274 bases
Orientation:
Minus strand
chr15:79,051,545-79,103,773
(GRCh37/hg19)
Size:
52,229 bases
Orientation:
Minus strand

Genomic View for ADAMTS7 Gene

Genes around ADAMTS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS7 Gene

Proteins for ADAMTS7 Gene

  • Protein details for ADAMTS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKP4-ATS7_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 7
    Protein Accession:
    Q9UKP4
    Secondary Accessions:
    • Q14F51
    • Q6P7J9

    Protein attributes for ADAMTS7 Gene

    Size:
    1686 amino acids
    Molecular mass:
    184095 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with COMP.
    SequenceCaution:
    • Sequence=AAD56358.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

neXtProt entry for ADAMTS7 Gene

Selected DME Specific Peptides for ADAMTS7 Gene

Q9UKP4:
  • AHELGHSFGIQHDG
  • VETLVVAD
  • LRPFHCQ
  • CSRSCGGG
  • EEEAPEL
  • EDRCGVC
  • LTSPGPT
  • VWIQLLFQ
  • CHLRPCA

Post-translational modifications for ADAMTS7 Gene

  • N-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. N- and C-glycosylations can also facilitate secretion. O-glycosylated proteoglycan. Contains chondroitin sulfate.
  • May be cleaved by a furin endopeptidase (By similarity). The precursor is sequentially processed.
  • Glycosylation at Asn94, Asn693, Asn778, Ser1129, Ser1131, Ser1135, and Thr1214
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS7 Gene

Gene Families for ADAMTS7 Gene

Protein Domains for ADAMTS7 Gene

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

Suggested Antigen Peptide Sequences for ADAMTS7 Gene

GenScript: Design optimal peptide antigens:
  • COMPase (ATS7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKP4

UniProtKB/Swiss-Prot:

ATS7_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.
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
genes like me logo Genes that share domains with ADAMTS7: view

Function for ADAMTS7 Gene

Molecular function for ADAMTS7 Gene

UniProtKB/Swiss-Prot Function:
Metalloprotease that may play a role in the degradation of COMP.
UniProtKB/Swiss-Prot Induction:
Up-regulated in articular cartilage and synovium from arthritis patients.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is between 7.5 and 9.5. {ECO:0000269|PubMed:16585064};
GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 7,extracellular matrix protein

Enzyme Numbers (IUBMB) for ADAMTS7 Gene

Phenotypes From GWAS Catalog for ADAMTS7 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 18485748
GO:0005515 protein binding IPI 18485748
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10464288
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS7: view
genes like me logo Genes that share phenotypes with ADAMTS7: view

Animal Models for ADAMTS7 Gene

MGI Knock Outs for ADAMTS7:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS7

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS7

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ADAMTS7 Gene

Localization for ADAMTS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS7 Gene

Secreted, extracellular space, extracellular matrix. Note=Also found associated with the external cell surface. {ECO:0000250}.

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 ADAMTS7 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 2
lysosome 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAMTS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0009986 cell surface IEA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with ADAMTS7: view

Pathways & Interactions for ADAMTS7 Gene

genes like me logo Genes that share pathways with ADAMTS7: view

Gene Ontology (GO) - Biological Process for ADAMTS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030198 extracellular matrix organization IBA 21873635
GO:0032331 negative regulation of chondrocyte differentiation IDA 22247065
GO:0051603 proteolysis involved in cellular protein catabolic process IMP 18485748
GO:0071347 cellular response to interleukin-1 IMP 18485748
genes like me logo Genes that share ontologies with ADAMTS7: view

No data available for SIGNOR curated interactions for ADAMTS7 Gene

Drugs & Compounds for ADAMTS7 Gene

No Compound Related Data Available

Transcripts for ADAMTS7 Gene

mRNA/cDNA for ADAMTS7 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 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 ADAMTS7

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS7 Gene

No ASD Table

Relevant External Links for ADAMTS7 Gene

GeneLoc Exon Structure for
ADAMTS7

Expression for ADAMTS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Heart (Cardiovascular System)

mRNA differential expression in normal tissues according to GTEx for ADAMTS7 Gene

This gene is overexpressed in Heart - Atrial Appendage (x8.7).

Protein differential expression in normal tissues from HIPED for ADAMTS7 Gene

This gene is overexpressed in Gallbladder (42.6) and Platelet (21.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS7 Gene



Protein tissue co-expression partners for ADAMTS7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTS7

SOURCE GeneReport for Unigene cluster for ADAMTS7 Gene:

Hs.16441

mRNA Expression by UniProt/SwissProt for ADAMTS7 Gene:

Q9UKP4-ATS7_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Detected in meniscus, bone, tendon, cartilage, synovium, fat and ligaments.

Evidence on tissue expression from TISSUES for ADAMTS7 Gene

  • Muscle(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with ADAMTS7: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS7 Gene

Orthologs for ADAMTS7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADAMTS7 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ADAMTS7 30 31
  • 83.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADAMTS7 30 31
  • 82.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS7 31
  • 81 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adamts7 30
  • 78.56 (n)
Mouse
(Mus musculus)
Mammalia Adamts7 30 17 31
  • 78.08 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ADAMTS7 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADAMTS7 30 31
  • 64.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADAMTS7 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adamts7 30
  • 62.63 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC560364 30
  • 61.59 (n)
CT030048.2 31
  • 38 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG4096 30 31 32
  • 52.89 (n)
ManyToMany
CG3622 32
  • 25 (a)
stl 31
  • 21 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001113 30
  • 51.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea T19D2.1 32
  • 27 (a)
adt-2 31
  • 26 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for ADAMTS7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)

Evolution for ADAMTS7 Gene

ENSEMBL:
Gene Tree for ADAMTS7 (if available)
TreeFam:
Gene Tree for ADAMTS7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS7: view image

Paralogs for ADAMTS7 Gene

(8) SIMAP similar genes for ADAMTS7 Gene using alignment to 1 proteins:

  • ATS7_HUMAN
genes like me logo Genes that share paralogs with ADAMTS7: view

Variants for ADAMTS7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS7 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
711075 Likely Benign: not provided 78,796,698(-) C/T SYNONYMOUS_VARIANT
715938 Benign: not provided 78,796,695(-) G/A SYNONYMOUS_VARIANT
719774 Benign: not provided 78,776,190(-) A/G SYNONYMOUS_VARIANT
720403 Likely Benign: not provided 78,796,756(-) C/T MISSENSE_VARIANT
723959 Likely Benign: not provided 78,777,483(-) G/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTS7 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS7 Gene

Variant ID Type Subtype PubMed ID
dgv308e201 CNV deletion 23290073
esv1505425 CNV insertion 17803354
esv2665394 CNV deletion 23128226
esv2749916 CNV deletion 23290073
esv3193587 CNV deletion 24192839
esv33573 CNV gain+loss 17666407
esv988480 CNV insertion 20482838
esv994389 CNV deletion 20482838
nsv1116464 OTHER inversion 24896259
nsv94789 CNV insertion 16902084
nsv952004 CNV deletion 24416366
nsv977739 CNV duplication 23825009
nsv977740 CNV duplication 23825009

Variation tolerance for ADAMTS7 Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.83; 83.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS7 Gene

Disorders for ADAMTS7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAMTS7 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
peters-plus syndrome
  • ptrpls
weill-marchesani syndrome
  • wms
cone-rod dystrophy 2
  • cord2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS7

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 ADAMTS7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS7 Gene

Publications for ADAMTS7 Gene

  1. ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family. (PMID: 10464288) Hurskainen TL … Apte SS (The Journal of biological chemistry 1999) 2 3 4 23
  2. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. (PMID: 21239051) Reilly MP … Rader DJ (Lancet (London, England) 2011) 3 41
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 41
  4. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) Coronary Artery Disease (C4D) Genetics Consortium (Nature genetics 2011) 3 41
  5. The role of ADAMTS-7 and ADAMTS-12 in the pathogenesis of arthritis. (PMID: 19098927) Liu CJ (Nature clinical practice. Rheumatology 2009) 3 23

Products for ADAMTS7 Gene

  • Biorbyt antibodies for ADAMTS7

Sources for ADAMTS7 Gene