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Aliases for ADAMTS9 Gene

Aliases for ADAMTS9 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 9 2
  • EC 3.4.24.14 56
  • EC 3.4.24.82 56
  • EC 3.4.24.- 4
  • ADAM-TS 9 4
  • ADAM-TS9 4
  • ADAMTS-9 4
  • KIAA1312 4

External Ids for ADAMTS9 Gene

Previous GeneCards Identifiers for ADAMTS9 Gene

  • GC03M063400
  • GC03M063939
  • GC03M064356
  • GC03M064458
  • GC03M064476

Summaries for ADAMTS9 Gene

Entrez Gene Summary for ADAMTS9 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]

GeneCards Summary for ADAMTS9 Gene

ADAMTS9 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9) is a Protein Coding gene. Diseases associated with ADAMTS9 include Peters-Plus Syndrome. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and endopeptidase activity. An important paralog of this gene is ADAMTS20.

UniProtKB/Swiss-Prot for ADAMTS9 Gene

  • Cleaves the large aggregating proteoglycans, aggrecan (at the 1838-Glu- -Ala-1839 site) and versican (at the 1428-Glu- -Ala-1429 site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos.

Gene Wiki entry for ADAMTS9 Gene

Additional gene information for ADAMTS9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS9 Gene

Genomics for ADAMTS9 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS9 Gene

Promoters and enhancers for ADAMTS9 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
GH03I064684 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 570.4 +1.2 1239 5.4 PKNOX1 FOXA2 ARNT FEZF1 GLI4 ZNF121 GLIS2 KLF7 KLF13 SP3 ADAMTS9 ADAMTS9-AS2 ATXN7 PSMD6-AS1 PSMD6-AS2 ENSG00000272181
GH03I064665 Enhancer 0.6 Ensembl ENCODE dbSUPER 21.4 +21.9 21870 1.2 ADAMTS9 ADAMTS9-AS2 GC03P064578 GC03P064577
GH03I064650 Enhancer 0.9 Ensembl ENCODE 11 +37.1 37120 1.7 CTCF PKNOX1 JUN FEZF1 ZIC2 CTBP1 FOXK2 SCRT2 TCF7L2 ZNF10 ADAMTS9 ADAMTS9-AS2 GC03P064577 GC03P064578
GH03I064264 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.2 +421.6 421551 4.7 FOXA2 MAX CEBPG ZIC2 RAD21 ZNF335 GLIS2 POLR2A PATZ1 PRDM10 PRICKLE2 ADAMTS9 GC03M064225 GC03M064399
GH03I064594 Enhancer 0.7 Ensembl ENCODE 10 +92.4 92415 1.4 RXRA JUN MAX REST RAD21 NR2F2 ADAMTS9-AS1 ADAMTS9 GC03P064578 GC03P064577 ADAMTS9-AS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTS9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS9 gene promoter:

Genomic Locations for ADAMTS9 Gene

Genomic Locations for ADAMTS9 Gene
chr3:64,515,654-64,688,000
(GRCh38/hg38)
Size:
172,347 bases
Orientation:
Minus strand
chr3:64,501,330-64,673,676
(GRCh37/hg19)

Genomic View for ADAMTS9 Gene

Genes around ADAMTS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS9 Gene

Proteins for ADAMTS9 Gene

  • Protein details for ADAMTS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2N4-ATS9_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 9
    Protein Accession:
    Q9P2N4
    Secondary Accessions:
    • A1L4L0
    • B7ZVX9
    • B9ZVN0
    • Q9NR29

    Protein attributes for ADAMTS9 Gene

    Size:
    1935 amino acids
    Molecular mass:
    216491 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS9 Gene

Selected DME Specific Peptides for ADAMTS9 Gene

Q9P2N4:
  • VCGGDNS
  • DKCGVCGG
  • AHELGHVF

Post-translational modifications for ADAMTS9 Gene

  • N-glycosylated (PubMed:12514189). 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 Asn112, Asn135, posLast=271271, Asn749, Asn840, Asn1213, Asn1267, posLast=17881788, and Asn1806

Other Protein References for ADAMTS9 Gene

Domains & Families for ADAMTS9 Gene

Gene Families for ADAMTS9 Gene

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

Suggested Antigen Peptide Sequences for ADAMTS9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2N4

UniProtKB/Swiss-Prot:

ATS9_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 ancillary domains, including the TSRs domain, are required for specific extracellular localization and for its versicanase and aggrecanase activities.
  • 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.
  • The GON domain mediates protease-independent function in ER to Golgi transport.
genes like me logo Genes that share domains with ADAMTS9: view

Function for ADAMTS9 Gene

Molecular function for ADAMTS9 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the large aggregating proteoglycans, aggrecan (at the 1838-Glu- -Ala-1839 site) and versican (at the 1428-Glu- -Ala-1429 site). Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos.

Enzyme Numbers (IUBMB) for ADAMTS9 Gene

Phenotypes From GWAS Catalog for ADAMTS9 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IEA --
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,IDA 12514189
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view
genes like me logo Genes that share phenotypes with ADAMTS9: view

Animal Models for ADAMTS9 Gene

MGI Knock Outs for ADAMTS9:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTS9 Gene

Localization for ADAMTS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS9 Gene

Secreted, extracellular space, extracellular matrix. Endoplasmic reticulum.

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 ADAMTS9 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
plasma membrane 2
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IDA 12514189
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view

Pathways & Interactions for ADAMTS9 Gene

genes like me logo Genes that share pathways with ADAMTS9: view

Gene Ontology (GO) - Biological Process for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003179 heart valve morphogenesis ISS --
GO:0003229 ventricular cardiac muscle tissue development ISS --
GO:0006508 proteolysis IDA,IEA 12514189
GO:0006516 glycoprotein catabolic process TAS 10936055
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view

No data available for SIGNOR curated interactions for ADAMTS9 Gene

Drugs & Compounds for ADAMTS9 Gene

No Compound Related Data Available

Transcripts for ADAMTS9 Gene

Unigene Clusters for ADAMTS9 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 9:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS9 Gene

No ASD Table

Relevant External Links for ADAMTS9 Gene

GeneLoc Exon Structure for
ADAMTS9
ECgene alternative splicing isoforms for
ADAMTS9

Expression for ADAMTS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS9 Gene

Protein differential expression in normal tissues from HIPED for ADAMTS9 Gene

This gene is overexpressed in Pancreas (36.5) and Heart (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS9 Gene



Protein tissue co-expression partners for ADAMTS9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS9 Gene:

ADAMTS9

SOURCE GeneReport for Unigene cluster for ADAMTS9 Gene:

Hs.656071

mRNA Expression by UniProt/SwissProt for ADAMTS9 Gene:

Q9P2N4-ATS9_HUMAN
Tissue specificity: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle.

Evidence on tissue expression from TISSUES for ADAMTS9 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ADAMTS9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS9 Gene

Orthologs for ADAMTS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS9 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia ADAMTS9 33 34
  • 90.67 (n)
cow
(Bos Taurus)
Mammalia ADAMTS9 33 34
  • 90.23 (n)
mouse
(Mus musculus)
Mammalia Adamts9 33 16 34
  • 86.41 (n)
rat
(Rattus norvegicus)
Mammalia Adamts9 33
  • 86.27 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS9 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS9 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS9 33 34
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia ADAMTS9 34
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii adamts9 33 34
  • 66.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6107 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea gon-1 33
  • 49.88 (n)
Species where no ortholog for ADAMTS9 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADAMTS9 Gene

ENSEMBL:
Gene Tree for ADAMTS9 (if available)
TreeFam:
Gene Tree for ADAMTS9 (if available)

Paralogs for ADAMTS9 Gene

genes like me logo Genes that share paralogs with ADAMTS9: view

Variants for ADAMTS9 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS9 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000002276 -- 64,681,927(-) G/T intron_variant
rs1000028209 -- 64,640,368(-) G/A intron_variant
rs1000048023 -- 64,605,999(-) C/T intron_variant
rs1000050823 -- 64,568,031(-) G/A intron_variant
rs1000052612 -- 64,670,785(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS9 Gene

Variant ID Type Subtype PubMed ID
dgv2709e59 CNV duplication 20981092
dgv2710e59 CNV tandem duplication 20981092
dgv289n21 CNV gain 19592680
dgv809n67 CNV gain 20364138
esv28694 CNV gain 19812545
esv3326518 CNV insertion 20981092
esv3596407 CNV gain 21293372
esv3596408 CNV gain 21293372
nsv1014598 CNV gain 25217958
nsv834718 CNV gain 17160897

Variation tolerance for ADAMTS9 Gene

Residual Variation Intolerance Score: 2.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS9 Gene

Disorders for ADAMTS9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAMTS9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
peters-plus syndrome
  • krause-kivlin syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTS9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS9 Gene

Publications for ADAMTS9 Gene

  1. Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. (PMID: 12514189) Somerville RP … Apte SS (The Journal of biological chemistry 2003) 3 4 22 58
  2. ADAMTS9, a novel member of the ADAM-TS/ metallospondin gene family. (PMID: 10936055) Clark ME … Maki RA (Genomics 2000) 2 3 4 58
  3. Identification of a novel ADAMTS9/GON-1 function for protein transport from the ER to the Golgi. (PMID: 22419820) Yoshina S … Mitani S (Molecular biology of the cell 2012) 3 4 58
  4. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PMID: 22005931) Kamboh MI … Lopez OL (Molecular psychiatry 2012) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ADAMTS9 Gene

Sources for ADAMTS9 Gene

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