ADAMTS9

General Information

Full gene name:ADAM metallopeptidase with thrombospondin type 1 motif, 9 Entrez Gene ID:56999 Location:3p14.1 Synonyms: Type:protein-coding

User SNPs

SNPs given by the user that are near or inside this gene:

SNP	Distance (bp)	Direction
rs4607103	38539	upstream

NCBI Summary

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. [provided by RefSeq, Jul 2008]

OMIM

OMIM ID:`OMIM ID 605421 `_

NCBI Phenotypes

• Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
• Genome-wide association analysis of age-at-onset in Alzheimer’s disease.
• NHGRI GWA Catalog
• Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

Gene Ontology

• glycoprotein catabolic process
• extracellular space
• multicellular organismal development
• extracellular matrix
• metalloendopeptidase activity
• zinc ion binding
• metallopeptidase activity
• proteolysis
• positive regulation of melanocyte differentiation
• proteinaceous extracellular matrix

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) [PMID 20075150]
• Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 20379614]
• TSR-1 domain-bearing truncated ADAMTS-9 demonstrates positive GAG-binding ability & displayed low aggrecanase activity. [PMID 16507336]
• Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator) [PMID 19602701]
• These data identify ADAMTS9 as a novel, constitutive, endogenous angiogenesis inhibitor that operates cell-autonomously in endothelial cells. [PMID 20093484]
• Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [PMID 20879858]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20816152]
• pro-ADAMTS9 is processed at the cell surface by furin [PMID 16537537]
• Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [PMID 20889853]
• Study show that polymorphisms in ADAMTS9 were associated with type 2 diabetes risk in the studied population. [PMID 18694974]
• Results indicate that ADAMTS9 contributes an important function in the tumor microenvironment that acts to inhibit angiogenesis and tumor growth in both esophageal cancer and nasophageal cancer. [PMID 20551050]
• Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 19324937]
• Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [PMID 20927120]
• Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [PMID 20203524]
• present study is novel in evaluating the prevalence of ADAMTS9 methylation based on a large number of tumor samples and showing that epigenetic regulation of ADAMTS9 was associated with carcinogenesis [PMID 19963134]
• Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 20935629]
• ADAMTS9 expression was downregulated or lost in 17 of 23 (73.9%) lymph node metastatic nasopharyngeal carcinoma (NPC) specimens. After transfection of the ADAMTS9 gene into 7 NPC cell lines, a dramatic reduction of colony forming ability was observed. [PMID 18449890]
• negative effect of TGFbeta1 on ADAMTS-1, -5, -9, and -15 coupled with increases in their inhibitor, TIMP-3 may aid the accumulation of versican in the stromal compartment of the prostate in BPH and prostate cancer [PMID 15599946]
• These data identify for the first time the cellular chaperones associated with secretion of an ADAMTS protease and suggest a role for gp96 in modulating pro-ADAMTS9 processing. [PMID 19875450]
• four of the six aggrecanases are expressed in immortalized chondrocyte cell-lines and can be upregulated in response to inflammatory cytokines [PMID 20568084]
• Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 18372903]
• this study identifies and provides functional evidence for a critical region associated with tumor suppression on 3p14.2 and provides the first evidence that ADAMTS9, mapping to this region, may contribute to esophageal cancer development [PMID 16799631]
• These findings may provide a better understanding of the NFATc1 regulation of ADAMTS9 expression induced by inflammatory cytokines such as IL-1 beta. [PMID 19052845]
• ancillary domains of ADAMTS-9 are required both for specific extracellular localization and for its versicanase and aggrecanase activities [PMID 12514189]

PubMed Articles

Recent articles:

• Kamboh MI et al. “Genome-wide association analysis of age-at-onset in Alzheimer’s disease.” Mol Psychiatry. 2011 Oct 18;. PMID 22005931
• de Miguel-Yanes JM et al. “Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.” Diabetes Care. 2011 Jan;34(1):121-5. PMID 20889853
• Coughlan TC et al. “Lentiviral shRNA knock-down of ADAMTS-5 and -9 restores matrix deposition in 3D chondrocyte culture.” J Tissue Eng Regen Med. 2010 Dec;4(8):611-8. PMID 20568084
• Zhou DZ et al. “Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.” J Hum Genet. 2010 Dec;55(12):810-5. PMID 20927120
• He C et al. “A large-scale candidate gene association study of age at menarche and age at natural menopause.” Hum Genet. 2010 Nov;128(5):515-27. PMID 20734064
• Heid IM et al. “Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.” Nat Genet. 2010 Nov;42(11):949-60. PMID 20935629
• Rotger M et al. “Impact of single nucleotide polymorphisms and of clinical risk factors on new‐onset diabetes mellitus in HIV‐infected individuals.” Clin Infect Dis. 2010 Nov 1;51(9):1090-8. PMID 20879858
• Stuebe AM et al. “Obesity and diabetes genetic variants associated with gestational weight gain.” Am J Obstet Gynecol. 2010 Sep;203(3):283.e1-17. PMID 20816152
• Morgan AR et al. “Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.” BMC Med Genet. 2010 Aug 16;11:125. PMID 20712903
• Lo PH et al. “Extracellular protease ADAMTS9 suppresses esophageal and nasopharyngeal carcinoma tumor formation by inhibiting angiogenesis.” Cancer Res. 2010 Jul 1;70(13):5567-76. PMID 20551050

Top Pubmed articles linked to gene ADAMTS9 matching any search term:

• Prasad SS et al. “Gene expression analysis to identify molecular correlates of pre- and post-conditioning derived neuroprotection.” J Mol Neurosci. 2012 Jun;47(2):322-39. PMID 22467039
• Hotta K et al. “Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.” J Hum Genet. 2012 May;57(5):305-10. PMID 22377712
• Cauchi S et al. “European genetic variants associated with type 2 diabetes in North African Arabs.” Diabetes Metab. 2012 Mar 29;. PMID 22463974
• Cooke JN et al. “Genetic risk assessment of type 2 diabetes-associated polymorphisms in African Americans.” Diabetes Care. 2012 Feb;35(2):287-92. PMID 22275441
• Zhou Y et al. “Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.” Hum Mol Genet. 2012 Jan 1;21(1):196-207. PMID 21965303
• Vangipurapu J et al. “Association of indices of liver and adipocyte insulin resistance with 19 confirmed susceptibility loci for type 2 diabetes in 6,733 non-diabetic Finnish men.” Diabetologia. 2011 Mar;54(3):563-71. PMID 21153532
• de Miguel-Yanes JM et al. “Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.” Diabetes Care. 2011 Jan;34(1):121-5. PMID 20889853
• Zhou DZ et al. “Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.” J Hum Genet. 2010 Dec;55(12):810-5. PMID 20927120
• Stuebe AM et al. “Obesity and diabetes genetic variants associated with gestational weight gain.” Am J Obstet Gynecol. 2010 Sep;203(3):283.e1-17. PMID 20816152
• Morgan AR et al. “Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.” BMC Med Genet. 2010 Aug 16;11:125. PMID 20712903
• Zhao J et al. “Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.” Diabetes. 2010 Mar;59(3):751-5. PMID 19933996
• Wen J et al. “Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.” PLoS One. 2010 Feb 10;5(2):e9153. PMID 20161779
• Talmud PJ et al. “Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.” BMJ. 2010 Jan 14;340:b4838. PMID 20075150
• Koo BH et al. “Cell-surface processing of the metalloprotease pro-ADAMTS9 is influenced by the chaperone GRP94/gp96.” J Biol Chem. 2010 Jan 1;285(1):197-205. PMID 19875450
• Schleinitz D et al. “Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits.” Horm Metab Res. 2010 Jan;42(1):14-22. PMID 19670153
• Lango Allen H et al. “Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.” Diabetes. 2010 Jan;59(1):266-71. PMID 19794065
• Hu C et al. “PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.” PLoS One. 2009 Oct 28;4(10):e7643. PMID 19862325
• Stancáková A et al. “Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.” Diabetes. 2009 Sep;58(9):2129-36. PMID 19502414