TSPAN8

General Information

Full gene name:tetraspanin 8 Entrez Gene ID:7103 Location:12q14.1-q21.1 Synonyms:CO-029, TM4SF3 Type:protein-coding

User SNPs

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

SNP	Distance (bp)	Direction
rs7961581	111323	upstream

NCBI Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

OMIM

OMIM ID:`OMIM ID 600769 `_

NCBI Phenotypes

• Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
• NHGRI GWA Catalog
• Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

Gene Ontology

• protein glycosylation
• lysosome
• signal transduction
• negative regulation of blood coagulation
• signal transducer activity
• integral to membrane

KEGG Pathways

No pathways found linked to this gene.

GeneRIFs

• Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [PMID 20889853]
• Observational study of gene-disease association. (HuGE Navigator) [PMID 20816152]
• claudin-7-associated EpCAM is recruited into (tetraspanin-enriched membrane microdomains) and forms a complex with CO-029 and CD44v6 that facilitates metastasis formation [PMID 17579117]
• Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [PMID 20927120]
• High TSPAN8 is associated with melanoma invasiveness. [PMID 21081927]
• Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 20360734]
• Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) [PMID 20075150]
• PMA-induced Tspan8-internalization promotes cell migration, but reduces matrix and cell adhesion. [PMID 20937409]
• Genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 18317468]
• Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) [PMID 18372903]
• Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 20379614]
• Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [PMID 19324937]
• Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator) [PMID 19602701]
• overexpression of TM4SF3 in esophageal cancer conferred advantage to the invasion and metastasis of this destructive disease [PMID 18365756]
• 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 and gene-gene interaction. (HuGE Navigator) [PMID 20571754]

PubMed Articles

Recent articles:

• Berthier-Vergnes O et al. “Gene expression profiles of human melanoma cells with different invasive potential reveal TSPAN8 as a novel mediator of invasion.” Br J Cancer. 2011 Jan 4;104(1):155-65. PMID 21081927
• 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
• Rana S et al. “Activation-induced internalization differs for the tetraspanins CD9 and Tspan8: Impact on tumor cell motility.” Int J Biochem Cell Biol. 2011 Jan;43(1):106-19. PMID 20937409
• 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
• 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
• Fontaine-Bisson B et al. “Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.” Diabetologia. 2010 Oct;53(10):2155-62. PMID 20571754
• 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
• Andersson EA et al. “Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.” Diabetologia. 2010 Sep;53(9):1908-16. PMID 20490451
• 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
• Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nat Genet. 2010 Jul;42(7):579-89. PMID 20581827

Top Pubmed articles linked to gene TSPAN8 matching any search term:

• 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
• Cheng I et al. “Type 2 diabetes risk variants and colorectal cancer risk: the Multiethnic Cohort and PAGE studies.” Gut. 2011 Dec;60(12):1703-11. PMID 21602532
• Pfister R et al. “Individual and cumulative effect of type 2 diabetes genetic susceptibility variants on risk of coronary heart disease.” Diabetologia. 2011 Sep;54(9):2283-7. PMID 21638130
• Champy MF et al. “Reduced body weight in male Tspan8-deficient mice.” Int J Obes (Lond). 2011 Apr;35(4):605-17. PMID 20733586
• 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
• Bell JT et al. “Genome-wide association scan allowing for epistasis in type 2 diabetes.” Ann Hum Genet. 2011 Jan;75(1):10-9. PMID 21133856
• 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
• Marselli L et al. “Gene expression profiles of Beta-cell enriched tissue obtained by laser capture microdissection from subjects with type 2 diabetes.” PLoS One. 2010 Jul 13;5(7):e11499. PMID 20644627
• Voight BF et al. “Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.” Nat Genet. 2010 Jul;42(7):579-89. PMID 20581827
• Scholz CJ et al. “Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia.” Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):967-72. PMID 20052686
• Craddock N et al. “Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.” Nature. 2010 Apr 1;464(7289):713-20. PMID 20360734
• Pierce BL et al. “Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.” Hum Hered. 2010;69(3):193-201. PMID 20203524
• 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
• Pettersen E et al. “Genetic heterogeneity in latent autoimmune diabetes is linked to various degrees of autoimmune activity: results from the Nord-Trøndelag Health Study.” Diabetes. 2010 Jan;59(1):302-10. PMID 19833889
• 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