This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 T... See more...

Aliases for ADAMTS17 Gene

Aliases for ADAMTS17 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 17 2 3
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 17 3 4
  • EC 3.4.24.82 51
  • EC 3.4.24.80 51
  • EC 3.4.24.- 4
  • ADAM-TS 17 4
  • ADAM-TS17 4
  • ADAMTS-17 4
  • EC 3.4.24 51
  • ADAMTS17 5
  • FLJ32769 2
  • FLJ16363 2
  • WMS4 3

External Ids for ADAMTS17 Gene

Previous GeneCards Identifiers for ADAMTS17 Gene

  • GC15M097199
  • GC15M094354
  • GC15M098105
  • GC15M098249
  • GC15M098332
  • GC15M100511
  • GC15M076635

Summaries for ADAMTS17 Gene

Entrez Gene Summary for ADAMTS17 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members 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 protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

GeneCards Summary for ADAMTS17 Gene

ADAMTS17 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 17) is a Protein Coding gene. Diseases associated with ADAMTS17 include Weill-Marchesani Syndrome 4 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 metalloendopeptidase activity. An important paralog of this gene is ADAMTS19.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS17 Gene

Genomics for ADAMTS17 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ADAMTS17 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
GH15J100341 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1124 2 SP1 CREB1 GATAD2A CTCF PRDM10 ZNF629 ZNF692 TARDBP ZIC2 POLR2A ADAMTS17 lnc-ASB7-4 lnc-CERS3-3 SNRPA1 ENSG00000259381 LINS1 PRKXP1 ASB7 LRRK1 CERS3-AS1
GH15J100345 Promoter 0.6 EPDnew 600.7 -2.6 -2592 0.1 SP1 ATF3 HNF4A RXRA ADAMTS17 LOC105371021 lnc-ASB7-4 SPATA41 CERS3
GH15J100349 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 5.2 -7.3 -7253 2 CEBPG CREB1 GATAD2A CTCF ATF7 TEAD4 REST SOX13 IKZF1 NFKBIZ SPATA41 LOC105371021 CERS3-AS1 ADAMTS17 lnc-ASB7-4 piR-39341-147 CERS3
GH15J100307 Enhancer 0.7 ENCODE dbSUPER 11.7 +34.4 34445 1.7 ZIC2 BHLHE40 ZNF423 SPI1 FEZF1 GLIS1 L3MBTL2 CTBP1 ZBTB8A ADAMTS17 SPATA41 piR-57597 lnc-CERS3-4 LYSMD4
GH15J100020 Enhancer 0.8 Ensembl ENCODE 9.4 +321.8 321823 2.6 ZIC2 ZNF341 NFE2 ZNF316 CREB1 FOSL1 MAFG BCOR GATA3 MAFK ADAMTS17 ENSG00000259363 piR-53029-047 piR-50968-046 LYSMD4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS17 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS17

Top Transcription factor binding sites by QIAGEN in the ADAMTS17 gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • CUTL1
  • GATA-1
  • Max
  • MyoD
  • Pax-5
  • STAT3

Genomic Locations for ADAMTS17 Gene

Genomic Locations for ADAMTS17 Gene
chr15:99,971,437-100,342,924
(GRCh38/hg38)
Size:
371,488 bases
Orientation:
Minus strand
chr15:100,511,643-100,882,210
(GRCh37/hg19)
Size:
370,568 bases
Orientation:
Minus strand

Genomic View for ADAMTS17 Gene

Genes around ADAMTS17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS17 Gene

Proteins for ADAMTS17 Gene

  • Protein details for ADAMTS17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE56-ATS17_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 17
    Protein Accession:
    Q8TE56
    Secondary Accessions:
    • Q2I7G4
    • Q6ZN75

    Protein attributes for ADAMTS17 Gene

    Size:
    1095 amino acids
    Molecular mass:
    121127 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS17 Gene

Selected DME Specific Peptides for ADAMTS17 Gene

Q8TE56:
  • VETLVVAD
  • EDRCGVC
  • VLPVLLLL
  • HELGHNLG

Post-translational modifications for ADAMTS17 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 Asn167, Asn483, Asn785, Asn790, Asn832, Asn839, and Asn894
  • Modification sites at PhosphoSitePlus

Domains & Families for ADAMTS17 Gene

Gene Families for ADAMTS17 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ADAMTS17 Gene

InterPro:
Blocks:
  • Thrombospondin, type I
  • Disintegrin
  • Thrombospondin type 1 repeat signature
  • Metalloendopeptidase M12B
ProtoNet:

Suggested Antigen Peptide Sequences for ADAMTS17 Gene

GenScript: Design optimal peptide antigens:
  • A disintegrin and metalloproteinase with thrombospondin motifs 17 (ATS17_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE56

UniProtKB/Swiss-Prot:

ATS17_HUMAN :
  • 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.
Domain:
  • 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 ADAMTS17: view

Function for ADAMTS17 Gene

Enzyme Numbers (IUBMB) for ADAMTS17 Gene

Phenotypes From GWAS Catalog for ADAMTS17 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS17: view
genes like me logo Genes that share phenotypes with ADAMTS17: view

Human Phenotype Ontology for ADAMTS17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS17

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADAMTS17

No data available for Molecular function , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS17 Gene

Localization for ADAMTS17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS17 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 ADAMTS17 gene
Compartment Confidence
extracellular 4
plasma membrane 3
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ADAMTS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0031012 extracellular matrix IBA 21873635
genes like me logo Genes that share ontologies with ADAMTS17: view

Pathways & Interactions for ADAMTS17 Gene

genes like me logo Genes that share pathways with ADAMTS17: view

Gene Ontology (GO) - Biological Process for ADAMTS17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0030198 extracellular matrix organization IBA 21873635
genes like me logo Genes that share ontologies with ADAMTS17: view

No data available for SIGNOR curated interactions for ADAMTS17 Gene

Drugs & Compounds for ADAMTS17 Gene

No Compound Related Data Available

Transcripts for ADAMTS17 Gene

mRNA/cDNA for ADAMTS17 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 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 ADAMTS17

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS17 Gene

No ASD Table

Relevant External Links for ADAMTS17 Gene

GeneLoc Exon Structure for
ADAMTS17

Expression for ADAMTS17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADAMTS17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS17 Gene

This gene is overexpressed in Muscle - Skeletal (x5.6) and Liver (x5.3).

Protein differential expression in normal tissues from HIPED for ADAMTS17 Gene

This gene is overexpressed in Esophagus (37.1) and Plasma (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS17 Gene



Protein tissue co-expression partners for ADAMTS17 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTS17

SOURCE GeneReport for Unigene cluster for ADAMTS17 Gene:

Hs.513200

mRNA Expression by UniProt/SwissProt for ADAMTS17 Gene:

Q8TE56-ATS17_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow and skeletal muscle. Isoform 1 and isoform 2 are expressed at high levels in the fetal heart, kidney, and whole eye, whereas a weak expression is seen in the fetal liver.

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS17 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ADAMTS17: view

Primer Products

No data available for Evidence on tissue expression from TISSUES for ADAMTS17 Gene

Orthologs for ADAMTS17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS17 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ADAMTS17 30 31
  • 99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ADAMTS17 30 31
  • 90.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ADAMTS17 30 31
  • 89.91 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Adamts17 30
  • 86.75 (n)
Mouse
(Mus musculus)
Mammalia Adamts17 30 17 31
  • 86.23 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS17 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ADAMTS17 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ADAMTS17 30 31
  • 76.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ADAMTS17 31
  • 78 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia adamts17 30
  • 72.18 (n)
Zebrafish
(Danio rerio)
Actinopterygii ADAMTS17 31
  • 72 (a)
OneToOne
LOC101884120 30
  • 69.37 (n)
Species where no ortholog for ADAMTS17 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)
  • 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 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)

Evolution for ADAMTS17 Gene

ENSEMBL:
Gene Tree for ADAMTS17 (if available)
TreeFam:
Gene Tree for ADAMTS17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS17: view image

Paralogs for ADAMTS17 Gene

(3) SIMAP similar genes for ADAMTS17 Gene using alignment to 4 proteins:

  • ATS17_HUMAN
  • H0YMH1_HUMAN
  • H3BRA9_HUMAN
  • H3BV94_HUMAN
genes like me logo Genes that share paralogs with ADAMTS17: view

Variants for ADAMTS17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS17 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
710080 Benign: not provided 99,976,049(-) G/T SYNONYMOUS_VARIANT
710081 Likely Benign: not provided 99,976,217(-) C/T SYNONYMOUS_VARIANT
712175 Benign: Weill-Marchesani syndrome 4; not provided 99,993,096(-) G/A SYNONYMOUS_VARIANT
718590 Benign: Weill-Marchesani syndrome 4; not provided 100,132,077(-) C/T MISSENSE_VARIANT
718881 Likely Benign: not provided 100,132,120(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ADAMTS17 Gene

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS17 Gene

Variant ID Type Subtype PubMed ID
dgv1273n106 CNV deletion 24896259
dgv150e215 CNV deletion 23714750
dgv2667n100 CNV gain 25217958
dgv312e201 CNV deletion 23290073
dgv332n27 CNV gain 19166990
dgv333n27 CNV gain 19166990
dgv469e214 CNV loss 21293372
dgv4769n54 CNV gain 21841781
dgv4770n54 CNV gain 21841781
esv1002402 CNV gain 20482838
esv1009964 CNV loss 20482838
esv1039633 CNV deletion 17803354
esv1330314 CNV insertion 17803354
esv1711191 CNV insertion 17803354
esv2042603 CNV deletion 18987734
esv2058680 CNV deletion 18987734
esv21445 CNV loss 19812545
esv23977 CNV loss 19812545
esv2470581 CNV insertion 19546169
esv2609224 CNV insertion 19546169
esv2650135 CNV deletion 19546169
esv2656457 CNV deletion 23128226
esv2659830 CNV deletion 23128226
esv2664256 CNV deletion 23128226
esv2673162 CNV deletion 23128226
esv2750126 CNV deletion 23290073
esv2750127 CNV deletion 23290073
esv2750128 CNV deletion 23290073
esv2750131 CNV deletion 23290073
esv2750132 CNV deletion 23290073
esv2750133 CNV deletion 23290073
esv2760061 CNV gain 17122850
esv2760367 CNV gain 21179565
esv29151 CNV loss 19812545
esv32990 CNV gain 17666407
esv3304921 CNV mobile element insertion 20981092
esv3306937 CNV mobile element insertion 20981092
esv3308527 CNV mobile element insertion 20981092
esv3309889 CNV mobile element insertion 20981092
esv3389112 CNV insertion 20981092
esv3420162 CNV insertion 20981092
esv34620 CNV gain 17911159
esv3581857 CNV loss 25503493
esv3581858 CNV loss 25503493
esv3581859 CNV loss 25503493
esv3637430 CNV gain 21293372
esv3637442 CNV loss 21293372
esv3637443 CNV gain 21293372
esv3637452 CNV gain 21293372
esv3637454 CNV loss 21293372
esv3637455 CNV gain 21293372
esv3637456 CNV loss 21293372
esv3637457 CNV loss 21293372
esv3637458 CNV loss 21293372
esv3637459 CNV loss 21293372
esv3637460 CNV loss 21293372
esv3637461 CNV gain 21293372
esv3637462 CNV loss 21293372
esv3637463 CNV loss 21293372
esv3637464 CNV gain 21293372
esv3637465 CNV loss 21293372
esv3637467 CNV gain 21293372
esv3637469 CNV loss 21293372
esv3637470 CNV gain 21293372
esv3637473 CNV gain 21293372
esv3637474 CNV gain 21293372
esv3892745 CNV gain 25118596
nsv1045838 CNV gain 25217958
nsv1050015 CNV gain 25217958
nsv1069887 CNV deletion 25765185
nsv1069888 CNV deletion 25765185
nsv1069889 CNV deletion 25765185
nsv1121513 CNV deletion 24896259
nsv1131097 CNV deletion 24896259
nsv1136202 CNV deletion 24896259
nsv1160322 CNV deletion 26073780
nsv1689 CNV deletion 18451855
nsv428313 CNV gain 18775914
nsv457284 CNV gain 19166990
nsv457286 CNV loss 19166990
nsv457287 CNV gain 19166990
nsv471263 CNV gain 18288195
nsv471264 CNV loss 18288195
nsv471265 CNV gain 18288195
nsv507798 OTHER sequence alteration 20534489
nsv521725 CNV loss 19592680
nsv522419 CNV loss 19592680
nsv522834 CNV gain 19592680
nsv528540 CNV loss 19592680
nsv529040 CNV loss 19592680
nsv570775 CNV loss 21841781
nsv570776 CNV gain 21841781
nsv570777 CNV gain 21841781
nsv570778 CNV loss 21841781
nsv570779 CNV gain 21841781
nsv570780 CNV loss 21841781
nsv570781 CNV gain 21841781
nsv817711 CNV gain 17921354
nsv833106 CNV gain 17160897
nsv9305 CNV gain 18304495

Variation tolerance for ADAMTS17 Gene

Residual Variation Intolerance Score: 29.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.98; 93.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS17 Gene

Human Gene Mutation Database (HGMD)
ADAMTS17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS17 Gene

Disorders for ADAMTS17 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ADAMTS17 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATS17_HUMAN
  • Weill-Marchesani syndrome 4 (WMS4) [MIM:613195]: An autosomal recessive syndrome characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia and short stature. Brachydactyly and decreased joint flexibility are present in some patients. {ECO:0000269 PubMed:19836009, ECO:0000269 PubMed:22486325, ECO:0000269 PubMed:24940034}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADAMTS17

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 ADAMTS17: view

No data available for Genatlas for ADAMTS17 Gene

Publications for ADAMTS17 Gene

  1. Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. (PMID: 11867212) Cal S … López-Otín C (Gene 2002) 2 3 4
  2. Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome. (PMID: 24940034) Shah MH … Kumar A (Molecular vision 2014) 3 4
  3. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. (PMID: 22486325) Khan AO … Alkuraya FS (Ophthalmic genetics 2012) 3 4
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 41
  5. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. (PMID: 19836009) Morales J … Al Tassan N (American journal of human genetics 2009) 3 4

Products for ADAMTS17 Gene

Sources for ADAMTS17 Gene