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Aliases for ADAMTS2 Gene

Aliases for ADAMTS2 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2 2 3 5
  • Procollagen N-Endopeptidase 2 3 4
  • Procollagen I N-Proteinase 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 2 2 3
  • Procollagen I/II Amino Propeptide-Processing Enzyme 3 4
  • ADAM-TS2 3 4
  • ADAMTS-2 3 4
  • PC I-NP 3 4
  • PCINP 3 4
  • PCPNI 3 4
  • PNPI 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 2 3
  • EC 4
  • ADAM-TS 2 4
  • ADAMTS-3 3
  • PCI-NP 3
  • NPI 3

External Ids for ADAMTS2 Gene

Previous GeneCards Identifiers for ADAMTS2 Gene

  • GC05M178625
  • GC05M179449
  • GC05M178654
  • GC05M178473
  • GC05M173265
  • GC05M178537

Summaries for ADAMTS2 Gene

Entrez Gene Summary for ADAMTS2 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 procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. 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 ADAMTS2 Gene

ADAMTS2 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2) is a Protein Coding gene. Diseases associated with ADAMTS2 include Ehlers-Danlos Syndrome, Dermatosparaxis Type and Ehlers-Danlos Syndrome. Among its related pathways are Collagen chain trimerization and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS3.

UniProtKB/Swiss-Prot for ADAMTS2 Gene

  • Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis.

Gene Wiki entry for ADAMTS2 Gene

Additional gene information for ADAMTS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS2 Gene

Genomics for ADAMTS2 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS2 Gene

Promoters and enhancers for ADAMTS2 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
GH05J179342 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.0 984 4.3 ZSCAN4 KLF14 RAD21 ZNF335 GLIS2 SCRT2 ZNF416 SP3 USF2 ZEB2 ADAMTS2 ZNF879 LOC105377759 PIR51374
GH05J179696 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 18.4 -353.5 -353515 4.9 CLOCK FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC CANX GC05M179696 MAML1 HNRNPH1 ZNF354B RUFY1 MRNIP CNOT6 ZNF879 LOC101928445
GH05J179619 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.4 -276.8 -276843 6.1 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 HNRNPH1 MAML1 ZNF879 MRNIP RUFY1 ZNF354C ZFP2 GRM6 LOC100996419 ENSG00000254035
GH05J179166 Enhancer 0.9 Ensembl ENCODE 18.5 +178.2 178225 1.3 CTCF RB1 ZIC2 RAD21 ZNF335 ZFHX2 CTBP1 PATZ1 VEZF1 ZNF143 ADAMTS2 GRM6 PIR31099 GC05M179111
GH05J179677 Promoter/Enhancer 1.6 Ensembl ENCODE 10.4 -333.2 -333176 2.3 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 CANX HMGB3P22 MAML1 MRNIP HNRNPH1 ZNF354B ZNF879 CNOT6 ZNF354C RUFY1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS2 gene promoter:
  • Hand1
  • E47
  • S8
  • E2F
  • E2F-1
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • SEF-1 (1)

Genomic Locations for ADAMTS2 Gene

Genomic Locations for ADAMTS2 Gene
234,580 bases
Minus strand
234,580 bases
Minus strand

Genomic View for ADAMTS2 Gene

Genes around ADAMTS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS2 Gene

Proteins for ADAMTS2 Gene

  • Protein details for ADAMTS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 2
    Protein Accession:

    Protein attributes for ADAMTS2 Gene

    1211 amino acids
    Molecular mass:
    134755 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • May belong to a multimeric complex. Binds specifically to collagen type XIV (By similarity).

    Alternative splice isoforms for ADAMTS2 Gene


neXtProt entry for ADAMTS2 Gene

Post-translational modifications for ADAMTS2 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=11501150, Asn1145, Asn1098, posLast=10311031, posLast=993993, posLast=949949, Asn251, Asn112, and posLast=6464
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS2 Gene

No data available for DME Specific Peptides for ADAMTS2 Gene

Domains & Families for ADAMTS2 Gene

Gene Families for ADAMTS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADAMTS2 Gene

GenScript: Design optimal peptide antigens:

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 ADAMTS2: view

Function for ADAMTS2 Gene

Molecular function for ADAMTS2 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the propeptides of type I and II collagen prior to fibril assembly. Does not act on type III collagen. May also play a role in development that is independent of its role in collagen biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves the N-propeptide of collagen chain alpha-1(I) at Pro- -Gln and of alpha-1(II) and alpha-2(I) at Ala- -Gln.
GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 2,extracellular matrix protein

Enzyme Numbers (IUBMB) for ADAMTS2 Gene

Phenotypes From GWAS Catalog for ADAMTS2 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10417273
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view
genes like me logo Genes that share phenotypes with ADAMTS2: view

Human Phenotype Ontology for ADAMTS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS2 Gene

MGI Knock Outs for ADAMTS2:

miRNA for ADAMTS2 Gene

miRTarBase miRNAs that target ADAMTS2

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADAMTS2 Gene

Localization for ADAMTS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS2 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 ADAMTS2 gene
Compartment Confidence
extracellular 5
plasma membrane 3
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view

Pathways & Interactions for ADAMTS2 Gene

genes like me logo Genes that share pathways with ADAMTS2: view

Gene Ontology (GO) - Biological Process for ADAMTS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007283 spermatogenesis IEA --
GO:0016485 protein processing IEA --
GO:0030199 collagen fibril organization IEA --
GO:0030324 lung development IEA --
genes like me logo Genes that share ontologies with ADAMTS2: view

No data available for SIGNOR curated interactions for ADAMTS2 Gene

Drugs & Compounds for ADAMTS2 Gene

(1) Drugs for ADAMTS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 2430

(1) Additional Compounds for ADAMTS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAMTS2: view

Transcripts for ADAMTS2 Gene

mRNA/cDNA for ADAMTS2 Gene

Unigene Clusters for ADAMTS2 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS2 Gene

No ASD Table

Relevant External Links for ADAMTS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS2 Gene

Protein differential expression in normal tissues from HIPED for ADAMTS2 Gene

This gene is overexpressed in Amniocyte (37.6) and Bone marrow mesenchymal stem cell (31.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS2 Gene

Protein tissue co-expression partners for ADAMTS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS2 Gene:


SOURCE GeneReport for Unigene cluster for ADAMTS2 Gene:


mRNA Expression by UniProt/SwissProt for ADAMTS2 Gene:

Tissue specificity: Expressed at high level in skin, bone, tendon and aorta and at low levels in thymus and brain.

Evidence on tissue expression from TISSUES for ADAMTS2 Gene

  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
  • chest wall
  • clavicle
  • diaphragm
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • intestine
  • pelvis
  • placenta
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • coagulation system
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ADAMTS2: view

No data available for mRNA differential expression in normal tissues for ADAMTS2 Gene

Orthologs for ADAMTS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTS2 34 33
  • 98.43 (n)
(Bos Taurus)
Mammalia ADAMTS2 34 33
  • 89.23 (n)
(Canis familiaris)
Mammalia ADAMTS2 34 33
  • 88.49 (n)
(Rattus norvegicus)
Mammalia Adamts2 33
  • 87.32 (n)
(Mus musculus)
Mammalia Adamts2 16 34 33
  • 86.45 (n)
(Monodelphis domestica)
Mammalia ADAMTS2 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia ADAMTS2 34
  • 76 (a)
(Gallus gallus)
Aves ADAMTS2 34 33
  • 71.77 (n)
(Anolis carolinensis)
Reptilia ADAMTS2 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492431 33
  • 63.93 (n)
(Danio rerio)
Actinopterygii ADAMTS2 (2 of 2) 34
  • 69 (a)
adamts22 34 33
  • 63.32 (n)
(Caenorhabditis elegans)
Secernentea C37C3.6a 35
  • 33 (a)
C37C3.6b 35
  • 33 (a)
Species where no ortholog for ADAMTS2 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 ADAMTS2 Gene

Gene Tree for ADAMTS2 (if available)
Gene Tree for ADAMTS2 (if available)
Evolutionary constrained regions (ECRs) for ADAMTS2: view image

Paralogs for ADAMTS2 Gene

(7) SIMAP similar genes for ADAMTS2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ADAMTS2: view

Variants for ADAMTS2 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10038484 benign, Ehlers-Danlos syndrome, type vii, autosomal recessive 179,113,025(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1006568806 uncertain-significance, Ehlers-Danlos syndrome, type vii, autosomal recessive 179,112,120(-) T/A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1019414511 uncertain-significance, Ehlers-Danlos syndrome, type vii, autosomal recessive 179,111,278(-) A/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1044205 benign, Ehlers-Danlos syndrome, type vii, autosomal recessive 179,110,916(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1044209 benign, Ehlers-Danlos syndrome, type vii, autosomal recessive 179,110,915(-) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS2 Gene

Variant ID Type Subtype PubMed ID
dgv10209n54 CNV loss 21841781
dgv10210n54 CNV gain 21841781
dgv210e55 CNV gain 17911159
dgv213n111 CNV duplication 26073780
dgv3239n106 CNV deletion 24896259
dgv5847n100 CNV gain 25217958
dgv734n27 CNV gain 19166990
esv1300070 CNV deletion 17803354
esv1695463 CNV deletion 17803354
esv2007859 CNV deletion 18987734
esv2159438 CNV deletion 18987734
esv2657354 CNV deletion 23128226
esv2659777 CNV deletion 23128226
esv2664480 CNV deletion 23128226
esv2731272 CNV deletion 23290073
esv2731274 CNV deletion 23290073
esv2731275 CNV deletion 23290073
esv2731276 CNV deletion 23290073
esv2731277 CNV deletion 23290073
esv2731278 CNV deletion 23290073
esv2731279 CNV deletion 23290073
esv2731280 CNV deletion 23290073
esv2731281 CNV deletion 23290073
esv2731282 CNV deletion 23290073
esv2731283 CNV deletion 23290073
esv2731285 CNV deletion 23290073
esv2731286 CNV deletion 23290073
esv2731287 CNV deletion 23290073
esv2731288 CNV deletion 23290073
esv2731289 CNV deletion 23290073
esv2759397 CNV gain 17122850
esv27894 CNV gain 19812545
esv3567094 CNV deletion 23714750
esv3570594 CNV loss 25503493
esv3607736 CNV gain 21293372
esv3607737 CNV loss 21293372
esv3607738 CNV gain 21293372
esv3607739 CNV loss 21293372
esv3607740 CNV loss 21293372
esv3607741 CNV loss 21293372
esv3607742 CNV gain 21293372
esv3607743 CNV gain 21293372
esv3890770 CNV gain 25118596
esv3890772 CNV loss 25118596
esv988467 CNV deletion 20482838
esv991289 CNV deletion 20482838
nsv1016097 CNV gain 25217958
nsv1033597 CNV gain 25217958
nsv1073942 CNV deletion 25765185
nsv1074894 CNV deletion 25765185
nsv1110452 CNV duplication 24896259
nsv1114766 CNV deletion 24896259
nsv1117429 CNV tandem duplication 24896259
nsv1117601 CNV deletion 24896259
nsv1117995 CNV deletion 24896259
nsv1120062 OTHER inversion 24896259
nsv1128211 CNV deletion 24896259
nsv1129264 CNV insertion 24896259
nsv1145082 CNV deletion 24896259
nsv1151030 CNV deletion 26484159
nsv327470 CNV deletion 16902084
nsv328099 CNV insertion 16902084
nsv328326 CNV deletion 16902084
nsv328359 CNV insertion 16902084
nsv328622 CNV deletion 16902084
nsv328920 CNV deletion 16902084
nsv329044 CNV insertion 16902084
nsv433375 CNV gain 18776910
nsv441979 CNV gain 18776908
nsv471061 CNV gain 18288195
nsv509109 CNV insertion 20534489
nsv600495 CNV loss 21841781
nsv600496 CNV gain 21841781
nsv600497 CNV loss 21841781
nsv600501 CNV loss 21841781
nsv819099 CNV loss 19587683
nsv830558 CNV loss 17160897
nsv950735 CNV deletion 24416366
nsv955862 CNV deletion 24416366

Variation tolerance for ADAMTS2 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.58; 96.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS2 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 ADAMTS2 Gene

Disorders for ADAMTS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ADAMTS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, dermatosparaxis type
  • edsderms
ehlers-danlos syndrome
  • cutis hyperelastica
hennekam syndrome
  • hennekam lymphangiectasia-lymphedema syndrome
van maldergem syndrome
  • cerebrofacioarticular syndrome
connective tissue disease
  • connective tissue disorder
- elite association - COSMIC cancer census association via MalaCards


  • Ehlers-Danlos syndrome 7C (EDS7C) [MIM:225410]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. {ECO:0000269 PubMed:10417273}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAMTS2

genes like me logo Genes that share disorders with ADAMTS2: view

No data available for Genatlas for ADAMTS2 Gene

Publications for ADAMTS2 Gene

  1. Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. (PMID: 15373769) Colige A … Nusgens BV (The Journal of investigative dermatology 2004) 2 3 22 58
  2. Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. (PMID: 10417273) Colige A … Nusgens BV (American journal of human genetics 1999) 3 4 22 58
  3. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. (PMID: 18937294) Lasky-Su J … Faraone SV (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58
  4. Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. (PMID: 11741898) Colige A … Nusgens BV (The Journal of biological chemistry 2002) 3 22 58
  5. ADAMTS: a novel family of proteases with an ADAM protease domain and thrombospondin 1 repeats. (PMID: 10094461) Tang BL … Hong W (FEBS letters 1999) 2 3 58

Products for ADAMTS2 Gene

Sources for ADAMTS2 Gene