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Aliases for ADAMTS3 Gene

Aliases for ADAMTS3 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 3 2 3
  • Procollagen II Amino Propeptide-Processing Enzyme 3 4
  • Procollagen II N-Proteinase 3 4
  • ADAM-TS 3 3 4
  • ADAM-TS3 3 4
  • ADAMTS-3 3 4
  • PC II-NP 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 3 3
  • Zinc Metalloendopeptidase 3
  • EC 3.4.24.- 4
  • ADAMTS-4 3
  • KIAA0366 4

External Ids for ADAMTS3 Gene

Previous GeneCards Identifiers for ADAMTS3 Gene

  • GC04M073136
  • GC04M073386
  • GC04M073547
  • GC04M073612
  • GC04M073511
  • GC04M068951

Summaries for ADAMTS3 Gene

Entrez Gene Summary for ADAMTS3 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 protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADAMTS3 Gene

ADAMTS3 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3) is a Protein Coding gene. Diseases associated with ADAMTS3 include Hennekam Syndrome and Van Maldergem Syndrome. Among its related pathways are Collagen chain trimerization and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include heparin binding and metalloendopeptidase activity. An important paralog of this gene is ADAMTS2.

UniProtKB/Swiss-Prot for ADAMTS3 Gene

  • Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens.

Gene Wiki entry for ADAMTS3 Gene

Additional gene information for ADAMTS3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS3 Gene

Genomics for ADAMTS3 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS3 Gene

Promoters and enhancers for ADAMTS3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J072566 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 657 +0.8 797 3.6 HDGF PKNOX1 ARNT SIN3A ZNF2 POLR2B CBX5 ZNF213 ZNF263 SP3 ADAMTS3 HMGA1P2 ENSG00000250877
GH04J072846 Enhancer 0.8 ENCODE 4.8 -277.3 -277300 0.5 HDAC1 PKNOX1 FOXA2 TCF12 ZNF766 CBX5 ATF7 CREM ELF1 ZNF148 ADAMTS3 GC04P072808 GC04M072932 PIR44130
GH04J073245 Enhancer 0.6 ENCODE 5.1 -676.4 -676365 1.4 SMARCE1 MTA2 ARNT TEAD4 TAL1 MZF1 CBFA2T3 ZEB2 DPF2 EP300 ADAMTS3 ANKRD17 LOC102724832 GC04P073141
GH04J072896 Enhancer 0.6 ENCODE 5 -327.3 -327338 1.4 HLF CEBPB CEBPG YY1 NR2F2 SP1 JUND ATF3 CEBPA HNF4A ADAMTS3 PIR44130 GC04M072932 GC04P072808
GH04J072899 Enhancer 0.6 ENCODE 4.3 -330.9 -330868 2.2 SOX5 SOX13 TEAD1 CEBPG ETS1 TEAD3 GATA3 EGR1 POLR2A CEBPA ADAMTS3 GC04M072932 PIR44130 GC04P072808
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTS3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS3 gene promoter:
  • FOXF2
  • FOXJ2 (long isoform)
  • FOXJ2
  • FOXI1
  • HFH-3
  • HTF
  • FOXO1
  • FOXO1a
  • Arnt

Genomic Locations for ADAMTS3 Gene

Genomic Locations for ADAMTS3 Gene
288,418 bases
Minus strand
287,831 bases
Minus strand

Genomic View for ADAMTS3 Gene

Genes around ADAMTS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS3 Gene

Proteins for ADAMTS3 Gene

  • Protein details for ADAMTS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 3
    Protein Accession:
    Secondary Accessions:
    • A1L3U9
    • Q9BXZ8

    Protein attributes for ADAMTS3 Gene

    1205 amino acids
    Molecular mass:
    135603 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for ADAMTS3 Gene

Post-translational modifications for ADAMTS3 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 posLast=11491149, posLast=11461146, Ser1088, posLast=942942, Asn814, Asn475, posLast=345345, Asn242, posLast=119119, and Asn83
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS3 Gene

No data available for DME Specific Peptides for ADAMTS3 Gene

Domains & Families for ADAMTS3 Gene

Gene Families for ADAMTS3 Gene

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

Suggested Antigen Peptide Sequences for ADAMTS3 Gene

Graphical View of Domain Structure for InterPro Entry



  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
  • 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 ADAMTS3: view

Function for ADAMTS3 Gene

Molecular function for ADAMTS3 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the propeptides of type II collagen prior to fibril assembly. Does not act on types I and III collagens.
GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 3,extracellular matrix protein

Enzyme Numbers (IUBMB) for ADAMTS3 Gene

Phenotypes From GWAS Catalog for ADAMTS3 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 24552833
GO:0004222 metalloendopeptidase activity TAS --
GO:0005515 protein binding IPI 24552833
GO:0008201 heparin binding IEA --
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS3: view
genes like me logo Genes that share phenotypes with ADAMTS3: view

Human Phenotype Ontology for ADAMTS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS3 Gene

MGI Knock Outs for ADAMTS3:

Animal Model Products

CRISPR Products

miRNA for ADAMTS3 Gene

miRTarBase miRNAs that target ADAMTS3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS3

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADAMTS3 Gene

Localization for ADAMTS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

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 ADAMTS3 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 24552833
GO:0031012 colocalizes_with extracellular matrix TAS 22261194
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with ADAMTS3: view

Pathways & Interactions for ADAMTS3 Gene

genes like me logo Genes that share pathways with ADAMTS3: view

Gene Ontology (GO) - Biological Process for ADAMTS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0010573 vascular endothelial growth factor production IDA 24552833
GO:0016485 protein processing IDA 11408482
GO:0030199 collagen fibril organization NAS 11812023
GO:0030574 collagen catabolic process NAS 11408482
genes like me logo Genes that share ontologies with ADAMTS3: view

No data available for SIGNOR curated interactions for ADAMTS3 Gene

Drugs & Compounds for ADAMTS3 Gene

No Compound Related Data Available

Transcripts for ADAMTS3 Gene

mRNA/cDNA for ADAMTS3 Gene

Unigene Clusters for ADAMTS3 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS3 Gene

No ASD Table

Relevant External Links for ADAMTS3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS3 Gene

This gene is overexpressed in Fallopian Tube (x4.2).

Protein differential expression in normal tissues from HIPED for ADAMTS3 Gene

This gene is overexpressed in Spinal cord (38.0) and CD4 Tcells (28.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS3 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTS3 Gene:


mRNA Expression by UniProt/SwissProt for ADAMTS3 Gene:

Tissue specificity: Found in cartilage and skin.

Evidence on tissue expression from TISSUES for ADAMTS3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with ADAMTS3: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS3 Gene

Orthologs for ADAMTS3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTS3 34 33
  • 99.5 (n)
(Bos Taurus)
Mammalia ADAMTS3 34 33
  • 91.65 (n)
(Canis familiaris)
Mammalia ADAMTS3 33
  • 89.59 (n)
(Rattus norvegicus)
Mammalia Adamts3 33
  • 87.96 (n)
(Mus musculus)
Mammalia Adamts3 16 34 33
  • 85.05 (n)
(Monodelphis domestica)
Mammalia ADAMTS3 34
  • 85 (a)
(Ornithorhynchus anatinus)
Mammalia ADAMTS3 34
  • 82 (a)
(Gallus gallus)
Aves ADAMTS3 34 33
  • 77.3 (n)
(Anolis carolinensis)
Reptilia ADAMTS3 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts3 33
  • 73.57 (n)
(Danio rerio)
Actinopterygii adamts3 34
  • 77 (a)
LOC568788 33
  • 71.97 (n)
(Caenorhabditis elegans)
Secernentea C37C3.6a 35
  • 34 (a)
C37C3.6b 35
  • 34 (a)
T19D2.1 35
  • 26 (a)
F08C6.1 35
  • 24 (a)
Species where no ortholog for ADAMTS3 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)
  • 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 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)

Evolution for ADAMTS3 Gene

Gene Tree for ADAMTS3 (if available)
Gene Tree for ADAMTS3 (if available)
Evolutionary constrained regions (ECRs) for ADAMTS3: view image

Paralogs for ADAMTS3 Gene

(7) SIMAP similar genes for ADAMTS3 Gene using alignment to 2 proteins:

  • Q96AY5_HUMAN
genes like me logo Genes that share paralogs with ADAMTS3: view

Variants for ADAMTS3 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs193921131 uncertain-significance, Malignant tumor of prostate 72,568,699(-) C/A coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs1000008351 -- 72,485,382(-) T/C intron_variant
rs1000009041 -- 72,445,423(-) T/C intron_variant
rs1000023468 -- 72,318,452(-) A/G intron_variant
rs1000038175 -- 72,368,403(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS3 Gene

Variant ID Type Subtype PubMed ID
esv3600969 CNV loss 21293372
esv3416833 CNV insertion 20981092
esv3052821 CNV deletion 24192839
esv2760818 CNV loss 21179565
esv2759260 CNV loss 17122850
esv2727821 CNV deletion 23290073
esv2727820 CNV deletion 23290073
esv2727819 CNV deletion 23290073
esv2727817 CNV deletion 23290073
esv2727816 CNV deletion 23290073
esv2727815 CNV deletion 23290073
esv2727814 CNV deletion 23290073
esv2727813 CNV deletion 23290073
esv2727812 CNV deletion 23290073
esv2727811 CNV deletion 23290073
esv2667909 CNV deletion 23128226
esv2663516 CNV deletion 23128226
esv22832 CNV gain+loss 19812545
esv2079277 CNV deletion 18987734
esv1992065 CNV deletion 18987734
esv1789836 CNV insertion 17803354
esv1266268 CNV insertion 17803354
esv1255200 CNV deletion 17803354
esv1024654 CNV insertion 17803354
dgv2826n106 CNV deletion 24896259
dgv2825n106 CNV insertion 24896259
nsv964341 CNV deletion 23825009
nsv955686 CNV deletion 24416366
nsv829969 CNV gain 17160897
nsv829968 CNV gain 17160897
nsv819816 CNV gain 19587683
nsv819500 CNV loss 19587683
nsv594656 CNV gain 21841781
nsv514226 CNV loss 21397061
nsv477796 CNV novel sequence insertion 20440878
nsv476267 CNV novel sequence insertion 20440878
nsv441889 CNV loss 18776908
nsv4385 CNV deletion 18451855
nsv291650 CNV insertion 16902084
nsv289840 CNV deletion 16902084
nsv1150252 CNV insertion 26484159
nsv1147304 CNV deletion 26484159
nsv1145858 CNV insertion 26484159
nsv1142399 CNV tandem duplication 24896259
nsv1132934 CNV insertion 24896259
nsv1129248 CNV insertion 24896259
nsv1076862 CNV insertion 25765185
nsv1073773 CNV deletion 25765185
nsv1073344 CNV deletion 25765185
nsv1011153 CNV loss 25217958
esv996163 CNV deletion 20482838
esv4638 CNV loss 18987735
esv3600971 CNV loss 21293372

Variation tolerance for ADAMTS3 Gene

Residual Variation Intolerance Score: 3.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS3 Gene

Disorders for ADAMTS3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ADAMTS3 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
van maldergem syndrome
  • cerebrofacioarticular syndrome
  • lymphatic edema
peters-plus syndrome
  • krause-kivlin syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS3 Gene

Publications for ADAMTS3 Gene

  1. Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. (PMID: 11408482) Fernandes RJ … Apte SS (The Journal of biological chemistry 2001) 3 4 22 58
  2. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 44 58
  3. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 44 58
  4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58
  5. Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q. (PMID: 15708897) Kawahara C … Loughlin J (Annals of the rheumatic diseases 2005) 3 44 58

Products for ADAMTS3 Gene

Sources for ADAMTS3 Gene

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