.. _TSPAN8: TSPAN8 ^^^^^^ .. contents:: :local: 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 | +-----------+---------------+-----------+ .. _TSPAN8 Gene summary: 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 ID 600769 : http://omim.org/entry/600769 .. _TSPAN8 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 600769 `_ .. _TSPAN8 Phenotype: 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``\ . .. _TSPAN8 GO Term: Gene Ontology ************* * protein glycosylation * lysosome * signal transduction * negative regulation of blood coagulation * signal transducer activity * integral to membrane .. _TSPAN8 Pathway: KEGG Pathways ************* No pathways found linked to this gene. .. _TSPAN8 GeneRIF: 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`_] .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 20816152: http://www.ncbi.nlm.nih.gov/pubmed/20816152 .. _PMID 17579117: http://www.ncbi.nlm.nih.gov/pubmed/17579117 .. _PMID 20927120: http://www.ncbi.nlm.nih.gov/pubmed/20927120 .. _PMID 21081927: http://www.ncbi.nlm.nih.gov/pubmed/21081927 .. _PMID 20360734: http://www.ncbi.nlm.nih.gov/pubmed/20360734 .. _PMID 20075150: http://www.ncbi.nlm.nih.gov/pubmed/20075150 .. _PMID 20937409: http://www.ncbi.nlm.nih.gov/pubmed/20937409 .. _PMID 18317468: http://www.ncbi.nlm.nih.gov/pubmed/18317468 .. _PMID 18372903: http://www.ncbi.nlm.nih.gov/pubmed/18372903 .. _PMID 20379614: http://www.ncbi.nlm.nih.gov/pubmed/20379614 .. _PMID 19324937: http://www.ncbi.nlm.nih.gov/pubmed/19324937 .. _PMID 19602701: http://www.ncbi.nlm.nih.gov/pubmed/19602701 .. _PMID 18365756: http://www.ncbi.nlm.nih.gov/pubmed/18365756 .. _PMID 20879858: http://www.ncbi.nlm.nih.gov/pubmed/20879858 .. _PMID 20571754: http://www.ncbi.nlm.nih.gov/pubmed/20571754 .. _TSPAN8 Pubmed: 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`_ .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 20712903: http://www.ncbi.nlm.nih.gov/pubmed/20712903 .. _PMID 20816152: http://www.ncbi.nlm.nih.gov/pubmed/20816152 .. _PMID 21081927: http://www.ncbi.nlm.nih.gov/pubmed/21081927 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 20937409: http://www.ncbi.nlm.nih.gov/pubmed/20937409 .. _PMID 20927120: http://www.ncbi.nlm.nih.gov/pubmed/20927120 .. _PMID 20571754: http://www.ncbi.nlm.nih.gov/pubmed/20571754 .. _PMID 20490451: http://www.ncbi.nlm.nih.gov/pubmed/20490451 .. _PMID 20879858: http://www.ncbi.nlm.nih.gov/pubmed/20879858 *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`_ .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 20712903: http://www.ncbi.nlm.nih.gov/pubmed/20712903 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 20927120: http://www.ncbi.nlm.nih.gov/pubmed/20927120 .. _PMID 20816152: http://www.ncbi.nlm.nih.gov/pubmed/20816152 .. _PMID 21638130: http://www.ncbi.nlm.nih.gov/pubmed/21638130 .. _PMID 19833889: http://www.ncbi.nlm.nih.gov/pubmed/19833889 .. _PMID 20052686: http://www.ncbi.nlm.nih.gov/pubmed/20052686 .. _PMID 20360734: http://www.ncbi.nlm.nih.gov/pubmed/20360734 .. _PMID 20075150: http://www.ncbi.nlm.nih.gov/pubmed/20075150 .. _PMID 20203524: http://www.ncbi.nlm.nih.gov/pubmed/20203524 .. _PMID 20644627: http://www.ncbi.nlm.nih.gov/pubmed/20644627 .. _PMID 19794065: http://www.ncbi.nlm.nih.gov/pubmed/19794065 .. _PMID 21602532: http://www.ncbi.nlm.nih.gov/pubmed/21602532 .. _PMID 21133856: http://www.ncbi.nlm.nih.gov/pubmed/21133856 .. _PMID 20733586: http://www.ncbi.nlm.nih.gov/pubmed/20733586 .. _PMID 21153532: http://www.ncbi.nlm.nih.gov/pubmed/21153532 .. _PMID 22377712: http://www.ncbi.nlm.nih.gov/pubmed/22377712