Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADAMTS4 Gene

Aliases for ADAMTS4 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 4 2 3
  • Aggrecanase-1 3 4
  • EC 3.4.24.82 4 61
  • ADAM-TS 4 3 4
  • ADAMTS-4 3 4
  • ADAM-TS4 3 4
  • ADMP-1 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 4 3
  • EC 3.4.24 61
  • ADAMTS-2 3
  • KIAA0688 4

External Ids for ADAMTS4 Gene

Previous GeneCards Identifiers for ADAMTS4 Gene

  • GC01M158870
  • GC01M156891
  • GC01M157937
  • GC01M158376
  • GC01M157972
  • GC01M159426
  • GC01M161159
  • GC01M132516

Summaries for ADAMTS4 Gene

Entrez Gene Summary for ADAMTS4 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein 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 enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADAMTS4 Gene

ADAMTS4 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4) is a Protein Coding gene. Diseases associated with ADAMTS4 include Osteoarthritis and Arthritis. Among its related pathways are O-glycosylation of TSR domain-containing proteins and HIV Life Cycle. GO annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS1.

UniProtKB/Swiss-Prot for ADAMTS4 Gene

  • Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the 392-Glu- -Ala-393 site.

Gene Wiki entry for ADAMTS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS4 Gene

Genomics for ADAMTS4 Gene

Regulatory Elements for ADAMTS4 Gene

Enhancers for ADAMTS4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F161381 1.5 FANTOM5 Ensembl ENCODE 11.6 -183.7 -183694 2.3 CTCF ZNF654 CEBPB MAFG REST RAD21 RFX5 ZNF316 ZBTB48 SMC3 SDHC NR1I3 MIR5187 TOMM40L APOA2 ADAMTS4 NDUFS2 MPZ RRM2P2 ENSG00000283696
GH01F161378 0.5 FANTOM5 11.6 -180.2 -180154 0.5 POLR2A ZBTB33 NDUFS2 NR1I3 APOA2 MIR5187 TOMM40L ADAMTS4 SDHC MPZ RRM2P2 CFAP126
GH01F161386 1.2 FANTOM5 Ensembl 11.6 -187.6 -187576 0.5 BCOR KLF1 PKNOX1 ESRRA SP3 STAT1 HLF NR2F1 RELA PATZ1 ADAMTS4 NDUFS2 SDHC NR1I3 APOA2 MIR5187 TOMM40L MPZ FCER1G ATF6
GH01F161196 1.2 FANTOM5 ENCODE 10.3 -1.0 -1015 8.0 MLX CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1 ZNF610 B4GALT3 NDUFS2 ARHGAP30 CD48 DUSP12 ADAMTS4 NIT1 TOMM40L PCP4L1 FCER1G
GH01F161180 1 FANTOM5 Ensembl ENCODE 8.6 +14.2 14155 9.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 B4GALT3 ADAMTS4 SLAMF7 NIT1 PPOX FCER1G CD48 ARHGAP30 CD244 FCGR3A
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ADAMTS4 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001750869 356 601 TBP DRAP1 CTCF PKNOX1 SAP130 KLF17 ARID4B ZNF48 RAD21 ZIC2
ENSR00001750868 1456 1201 HDGF SIN3A ARID4B GLI4 GLIS2 ZNF766 GATA2 KLF7 KDM4B ZNF263

Genomic Location for ADAMTS4 Gene

Chromosome:
1
Start:
161,184,308 bp from pter
End:
161,199,056 bp from pter
Size:
14,749 bases
Orientation:
Minus strand

Genomic View for ADAMTS4 Gene

Genes around ADAMTS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS4 Gene

Proteins for ADAMTS4 Gene

  • Protein details for ADAMTS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75173-ATS4_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 4
    Protein Accession:
    O75173
    Secondary Accessions:
    • Q2HYD0
    • Q5VTW2
    • Q6P4Q8
    • Q6UWA8
    • Q9UN83

    Protein attributes for ADAMTS4 Gene

    Size:
    837 amino acids
    Molecular mass:
    90197 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with SRPX2.
    SequenceCaution:
    • Sequence=ABC88384.1; Type=Frameshift; Positions=697; Evidence={ECO:0000305}; Sequence=BAA31663.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAMTS4 Gene

    Alternative splice isoforms for ADAMTS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS4 Gene

Post-translational modifications for ADAMTS4 Gene

  • 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).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn 68
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ADAMTS4
  • Cloud-Clone Corp. Antibodies for ADAMTS4

Domains & Families for ADAMTS4 Gene

Gene Families for ADAMTS4 Gene

Suggested Antigen Peptide Sequences for ADAMTS4 Gene

Graphical View of Domain Structure for InterPro Entry

O75173

UniProtKB/Swiss-Prot:

ATS4_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.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 TSP type-1 domain.
genes like me logo Genes that share domains with ADAMTS4: view

Function for ADAMTS4 Gene

Molecular function for ADAMTS4 Gene

GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type),aggrecanase 1,with thrombospondin type 1 motif 4,potentially degrading aggrecan in arthritis disease,extracellular matrix protein
UniProtKB/Swiss-Prot CatalyticActivity:
Glutamyl endopeptidase; bonds cleaved include 370-Thr-Glu-Gly-Glu- -Ala-Arg-Gly-Ser-377 in the interglobular domain of mammalian aggrecan.
UniProtKB/Swiss-Prot Function:
Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover. May play an important role in the destruction of aggrecan in arthritic diseases. Could also be a critical factor in the exacerbation of neurodegeneration in Alzheimer disease. Cleaves aggrecan at the 392-Glu- -Ala-393 site.
UniProtKB/Swiss-Prot Induction:
By IL1/interleukin-1.

Enzyme Numbers (IUBMB) for ADAMTS4 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 14744861
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0005515 protein binding IPI 18718938
GO:0008233 peptidase activity IEA,TAS 10751421
GO:0008237 metallopeptidase activity IEA,TAS 10356395
genes like me logo Genes that share ontologies with ADAMTS4: view
genes like me logo Genes that share phenotypes with ADAMTS4: view

Animal Models for ADAMTS4 Gene

MGI Knock Outs for ADAMTS4:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS4

miRNA for ADAMTS4 Gene

miRTarBase miRNAs that target ADAMTS4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTS4 Gene

Localization for ADAMTS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADAMTS4 Gene COMPARTMENTS Subcellular localization image for ADAMTS4 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ADAMTS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IDA 14744861
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADAMTS4: view

Pathways & Interactions for ADAMTS4 Gene

genes like me logo Genes that share pathways with ADAMTS4: view

Gene Ontology (GO) - Biological Process for ADAMTS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10356395
GO:0006508 proteolysis IEA --
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with ADAMTS4: view

No data available for SIGNOR curated interactions for ADAMTS4 Gene

Drugs & Compounds for ADAMTS4 Gene

(5) Drugs for ADAMTS4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tinzaparin Approved Pharma Enzyme, inhibitor 37

(3) Additional Compounds for ADAMTS4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAMTS4: view

Transcripts for ADAMTS4 Gene

Unigene Clusters for ADAMTS4 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 4:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for ADAMTS4 Gene

GeneLoc Exon Structure for
ADAMTS4
ECgene alternative splicing isoforms for
ADAMTS4

Expression for ADAMTS4 Gene

mRNA expression in normal human tissues for ADAMTS4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS4 Gene

This gene is overexpressed in Ovary (x5.7) and Adipose - Visceral (Omentum) (x5.6).

Protein differential expression in normal tissues from HIPED for ADAMTS4 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (28.5), Pancreatic juice (24.4), and Gallbladder (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS4 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAMTS4 Gene:

ADAMTS4

SOURCE GeneReport for Unigene cluster for ADAMTS4 Gene:

Hs.211604

mRNA Expression by UniProt/SwissProt for ADAMTS4 Gene:

O75173-ATS4_HUMAN
Tissue specificity: Expressed in brain, lung and heart (PubMed:23897278). Expressed at very low level in placenta and skeletal muscles (PubMed:23897278). Isoform 2: Detected in osteoarthritic synovium (PubMed:16723216, PubMed:23897278).
genes like me logo Genes that share expression patterns with ADAMTS4: view

Primer Products

No data available for Protein tissue co-expression partners for ADAMTS4 Gene

Orthologs for ADAMTS4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS4 34 35
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia ADAMTS4 34 35
  • 89.25 (n)
dog
(Canis familiaris)
Mammalia ADAMTS4 34 35
  • 87.34 (n)
mouse
(Mus musculus)
Mammalia Adamts4 34 16 35
  • 86.82 (n)
rat
(Rattus norvegicus)
Mammalia Adamts4 34
  • 86.14 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS4 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADAMTS4 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts4 34
  • 66.32 (n)
Species where no ortholog for ADAMTS4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • zebrafish (Danio rerio)

Evolution for ADAMTS4 Gene

ENSEMBL:
Gene Tree for ADAMTS4 (if available)
TreeFam:
Gene Tree for ADAMTS4 (if available)

Paralogs for ADAMTS4 Gene

genes like me logo Genes that share paralogs with ADAMTS4: view

Variants for ADAMTS4 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs111314868 -- 161,190,670(+) ATTTT(-/CA)CACAC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs111348569 -- 161,191,236(+) AGGGG(C/T)CGGCC nc-transcript-variant, reference, missense
rs111439732 -- 161,191,561(+) TATCC(A/G)TACCT intron-variant, nc-transcript-variant, reference, synonymous-codon
rs111551458 -- 161,193,764(+) CCACC(C/T)CCACA nc-transcript-variant, reference, synonymous-codon
rs111839273 -- 161,198,283(+) TCAGG(C/T)GCCTG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS4 Gene

Variant ID Type Subtype PubMed ID
esv32799 CNV gain 17666407

Variation tolerance for ADAMTS4 Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS4 Gene

Disorders for ADAMTS4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAMTS4 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteoarthritis
  • arthropathy
arthritis
  • inflammatory disorder of joint
chondrosarcoma
  • chondrosarcoma of bone
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADAMTS4

Genetic Association Database (GAD)
ADAMTS4
Human Genome Epidemiology (HuGE) Navigator
ADAMTS4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS4
genes like me logo Genes that share disorders with ADAMTS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS4 Gene

Publications for ADAMTS4 Gene

  1. An alternative spliced transcript of ADAMTS4 is present in human synovium from OA patients. (PMID: 16723216) Wainwright S.D. … Hughes C.E. (Matrix Biol. 2006) 3 4 22 64
  2. The thrombospondin motif of aggrecanase-1 (ADAMTS-4) is critical for aggrecan substrate recognition and cleavage. (PMID: 10827174) Tortorella M.D. … Arner E.C. (J. Biol. Chem. 2000) 3 4 22 64
  3. Purification and cloning of aggrecanase-1: a member of the ADAMTS family of proteins. (PMID: 10356395) Tortorella M.D. … Arner E.C. (Science 1999) 3 4 22 64
  4. ADAMTS-4_v1 is a splice variant of ADAMTS-4 that is expressed as a protein in human synovium and cleaves aggrecan at the interglobular domain. (PMID: 23897278) Wainwright S.D. … Hughes C.E. (Arthritis Rheum. 2013) 3 4 64
  5. ADAMTS4 level in patients with stable coronary artery disease and acute coronary syndromes. (PMID: 19944557) Zha Y. … Cui L. (Biomed. Pharmacother. 2010) 3 22 64

Products for ADAMTS4 Gene

Sources for ADAMTS4 Gene

Content
Loading form....