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 ... See more...

Aliases for ADAMTS4 Gene

Aliases for ADAMTS4 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 4 2 3 5
  • ADMP-1 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 4 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 4 3 4
  • Aggrecanase-1 3 4
  • EC 3.4.24.82 4 50
  • ADAM-TS 4 3 4
  • ADAMTS-2 2 3
  • ADAMTS-4 3 4
  • ADAM-TS4 3 4
  • KIAA0688 2 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 3.4.24 50
  • ADAMTS4 5

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 Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS4 Gene

Genomics for ADAMTS4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADAMTS4 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
GH01J161193 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 260.3 +3.7 3661 10.8 BCLAF1 ZNF207 MYC IKZF1 ZNF600 SIX5 ZNF580 ZNF592 KLF9 POLR2A NDUFS2 ADAMTS4 DUSP12 B4GALT3 USP21 PPOX LOC100287049 DCAF8 NIT1 TOMM40L
GH01J161181 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +17.3 17280 7.6 SP1 IKZF1 NFIC BCL11A TRIM22 IRF4 EBF1 CBFB MAX SMARCA5 B4GALT3 HSALNG0007913 ADAMTS4 SLAMF7 PPOX NIT1 FCER1G CD48 ARHGAP30 CD244
GH01J161386 Enhancer 1 FANTOM5 Ensembl dbSUPER 11.6 -184.5 -184462 1.6 NFIC ZNF341 HDAC2 HNF4A ZBTB33 ATF4 L3MBTL2 PKNOX1 KLF1 SP3 ENSG00000283696 HSALNG0007937 SDHC ADAMTS4 NDUFS2 NR1I3 APOA2 TOMM40L MPZ FCRLA
GH01J161381 Enhancer 1 FANTOM5 ENCODE dbSUPER 11.6 -180.5 -180485 2.1 ZNF654 CTCF REST RAD21 RFX5 SMC3 ZBTB48 ATF2 ATF3 ZNF660 piR-57134-004 SDHC NR1I3 TOMM40L APOA2 ADAMTS4 NDUFS2 MPZ ENSG00000283696 CFAP126
GH01J161378 Promoter/Enhancer 0.7 FANTOM5 Ensembl 11.6 -176.9 -176870 0.5 ZBTB33 RRM2P2 NDUFS2 NR1I3 TOMM40L APOA2 ADAMTS4 SDHC MPZ lnc-SDHC-2 CFAP126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS4

Top Transcription factor binding sites by QIAGEN in the ADAMTS4 gene promoter:
  • CUTL1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ADAMTS4 Gene

Latest Assembly
chr1:161,184,302-161,202,339
(GRCh38/hg38)
Size:
18,038 bases
Orientation:
Minus strand

Previous Assembly
chr1:161,154,092-161,168,844
(GRCh37/hg19 by Entrez Gene)
Size:
14,753 bases
Orientation:
Minus strand

chr1:161,154,098-161,168,846
(GRCh37/hg19 by Ensembl)
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; Evidence={ECO:0000305}; Sequence=BAA31663.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Functional aggrecanase.

    Three dimensional structures from OCA and Proteopedia for ADAMTS4 Gene

    Alternative splice isoforms for ADAMTS4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS4 Gene

Selected DME Specific Peptides for ADAMTS4 Gene

O75173:
  • CDTLGMADVGT
  • PQVGPSAAQTLRSFC
  • PVPRNGGKYCEGRRT
  • LTFREEQCAAYNH
  • WQRGLNTP
  • VETLVVAD
  • TDVVLPGAVSLRYSG
  • MLHDNSK
  • DYDADRQ
  • THILVRQQG
  • DTAILFTRQ
  • CSKQSGSF
  • KHPSIRN
  • TFPGKDYDADRQCQLTFGPDS
  • RALGYYYVL
  • CSRTCGGGV
  • PQAGGWGPWG
  • AHELGHVF
  • HCPQLPPPCAALWC
  • RYSFFVP
  • PWGDCSR
  • SKKKFDKC

Post-translational modifications for ADAMTS4 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 Asn68
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS4 Gene

Domains & Families for ADAMTS4 Gene

Gene Families for ADAMTS4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for ADAMTS4 Gene

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

Suggested Antigen Peptide Sequences for ADAMTS4 Gene

GenScript: Design optimal peptide antigens:
  • Aggrecanase-1 (ATS4_HUMAN)
  • ADAM metallopeptidase with thrombospondin type 1 motif 4 alternative splice variant (Q2HYD0_HUMAN)

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.
genes like me logo Genes that share domains with ADAMTS4: view

Function for ADAMTS4 Gene

Molecular function for ADAMTS4 Gene

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 CatalyticActivity:
Reaction=Glutamyl endopeptidase. Bonds cleaved include 370-Thr-Glu-Gly-Glu-|-Ala-Arg-Gly-Ser-377 in the interglobular domain of mammalian aggrecan.; EC=3.4.24.82;.
UniProtKB/Swiss-Prot Induction:
By IL1/interleukin-1.
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

Enzyme Numbers (IUBMB) for ADAMTS4 Gene

Phenotypes From GWAS Catalog 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 IBA 21873635
GO:0005515 protein binding IPI 18718938
GO:0008233 peptidase activity TAS,IDA 23845380
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 Models for research

  • Taconic Biosciences Mouse Models for ADAMTS4

miRNA for ADAMTS4 Gene

miRTarBase miRNAs that target ADAMTS4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS4

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
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 ADAMTS4 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 14744861
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016607 nuclear speck IDA --
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 --
GO:0030198 extracellular matrix organization IBA 21873635
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 452

(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

mRNA/cDNA for ADAMTS4 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS4

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

Expression for ADAMTS4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for ADAMTS4 Gene



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

Evidence on tissue expression from TISSUES for ADAMTS4 Gene

  • Nervous system(4.7)
  • Heart(2.5)
  • Bone(2.2)
  • Liver(2.1)
  • Muscle(2.1)
  • Intestine(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with ADAMTS4: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADAMTS4 29 30
  • 89.25 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADAMTS4 29 30
  • 87.34 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Adamts4 29 16 30
  • 86.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adamts4 29
  • 86.14 (n)
Oppossum
(Monodelphis domestica)
Mammalia ADAMTS4 30
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADAMTS4 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adamts4 29
  • 66.32 (n)
Species where no ortholog for ADAMTS4 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)
  • 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 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)
  • Zebrafish (Danio rerio)

Evolution for ADAMTS4 Gene

ENSEMBL:
Gene Tree for ADAMTS4 (if available)
TreeFam:
Gene Tree for ADAMTS4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS4: view image
Alliance of Genome Resources:
Additional Orthologs for ADAMTS4

Paralogs for ADAMTS4 Gene

(13) SIMAP similar genes for ADAMTS4 Gene using alignment to 3 proteins:

  • ATS4_HUMAN
  • Q2HYD0_HUMAN
  • Q5VTW1_HUMAN
genes like me logo Genes that share paralogs with ADAMTS4: view

Variants for ADAMTS4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs189165754 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 161,199,417(-) G/A
NM_004550.4(NDUFS2):c.-346G>A
FIVE_PRIME_UTR
rs34884997 Benign: not provided 161,191,082(-) T/C
NM_005099.6(ADAMTS4):c.*56A>G
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs3813623 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1. Benign: Mitochondrial complex I deficiency, nuclear type 1 161,199,375(-) G/AG/T
NM_004550.4(NDUFS2):c.-388G>A
FIVE_PRIME_UTR
rs41270845 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 161,199,465(-) C/G
NM_004550.4(NDUFS2):c.-298C>G
FIVE_PRIME_UTR
rs563669084 Uncertain Significance: Mitochondrial complex I deficiency, nuclear type 1 161,202,168(-) G/A
NM_004550.4(NDUFS2):c.-218G>A
FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ADAMTS4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for ADAMTS4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS4
Leiden Open Variation Database (LOVD)
ADAMTS4

SNP Genotyping and Copy Number Assays for research

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

Disorders for ADAMTS4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ADAMTS4 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
osteoarthritis
  • degenerative arthritis
arthritis
  • inflammatory disorder of joint
chondrosarcoma
  • cartilaginous cancer
peters-plus syndrome
  • ptrpls
bone structure disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS4

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 SD … Hughes CE (Matrix biology : journal of the International Society for Matrix Biology 2006) 3 4 22
  2. The thrombospondin motif of aggrecanase-1 (ADAMTS-4) is critical for aggrecan substrate recognition and cleavage. (PMID: 10827174) Tortorella M … Arner E (The Journal of biological chemistry 2000) 3 4 22
  3. Purification and cloning of aggrecanase-1: a member of the ADAMTS family of proteins. (PMID: 10356395) Tortorella MD … Arner EC (Science (New York, N.Y.) 1999) 3 4 22
  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 SD … Hughes CE (Arthritis and rheumatism 2013) 3 4
  5. ADAMTS4 level in patients with stable coronary artery disease and acute coronary syndromes. (PMID: 19944557) Zha Y … Cui L (Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2010) 3 22

Products for ADAMTS4 Gene

Sources for ADAMTS4 Gene