.. _JAZF1: JAZF1 ^^^^^ .. contents:: :local: General Information ******************* :Full gene name: JAZF zinc finger 1 :Entrez Gene ID: 221895 :Location: 7p15.2-p15.1 :Synonyms: ZNF802, TIP27 :Type: protein-coding User SNPs ********* SNPs given by the user that are near or inside this gene: +----------+---------------+-----------+ | SNP | Distance (bp) | Direction | +==========+===============+===========+ | rs864745 | 0 | within | +----------+---------------+-----------+ .. _JAZF1 Gene summary: NCBI Summary ************ This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008] .. _OMIM ID 606245 : http://omim.org/entry/606245 .. _JAZF1 OMIM Text: OMIM **** :OMIM ID: `OMIM ID 606245 `_ .. _JAZF1 Phenotype: NCBI Phenotypes *************** * Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 \ ``diabetes``\ . * Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. * Multiple loci identified in a genome-wide association study of prostate cancer. * Twelve type 2 \ ``diabetes``\ susceptibility loci identified through large-scale association analysis. * NHGRI GWA Catalog * Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. .. _JAZF1 GO Term: Gene Ontology ************* * nucleic acid binding * negative regulation of transcription from RNA polymerase II promoter * transcriptional repressor complex * zinc ion binding * transcription, DNA-dependent * transcription corepressor activity .. _JAZF1 Pathway: KEGG Pathways ************* No pathways found linked to this gene. .. _JAZF1 GeneRIF: GeneRIFs ******** * This study indicates a nominal role for JAZF1 and BCL11A variants in type 2 \ ``diabetes``\ susceptibility in African-Americans. [`PMID 22113416`_] * The JAZF1-JJAZ1 gene fusion was not identified in any Uterine tumor resembling ovarian sex cord tumors [`PMID 19542872`_] * Genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 18264096`_] * 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`_] * Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) [`PMID 20878950`_] * Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator) [`PMID 19602701`_] * The JAZF1 SNPs rs6968704 and rs10486567 were associated with decreased risk of prostate cancer but were not associated with \ ``diabetes``\ . [`PMID 19998368`_] * Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) [`PMID 20879858`_] * Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 20690139`_] * Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) [`PMID 20450899`_] * The JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia. [`PMID 17197920`_] * Affinity Capture-MS [`PMID 21890473`_] * Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) [`PMID 20889853`_] * Study show that polymorphisms in JAZF1 were associated with type 2 \ ``diabetes``\ risk in the studied population. [`PMID 18694974`_] * Observational study of gene-disease association. (HuGE Navigator) [`PMID 21071540`_] * Endometrial stromal tumors(ESTs) are genetically heterogeneous, with prevalence of JAZF1-JJAZ1 fusion highest among ESTs of classic histology. Diagnostic utility of JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to classic histologic subset. [`PMID 15043312`_] * Observational study and meta-analysis of gene-disease association. (HuGE Navigator) [`PMID 21068098`_] * Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 18952825`_] * Linkage and genome-wide association analyses independently identified the JAZF1 affecting human height. [`PMID 18952825`_] * predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein [`PMID 18722875`_] * The JAFZ1-JJAZ1 fusion gene is present in the endometrial stromal and smooth muscle components of endometrial stromal tumors. [`PMID 17667554`_] * Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) [`PMID 19343178`_] * Both benign and malignant forms of endometrial stromal tumor have the JAZF1-JJAZ1 fusion, but only the malignant form also exhibits exclusion of the unrearranged JJAZ1 allele. [`PMID 18077430`_] * study shows normal endometrial stromal cells contain a specific chimeric RNA joining 5' exons of JAZF1 gene on chromosome 7p15 to 3' exons of JJAZ1/SUZ12 gene on chromosome 17q11; this RNA is translated into JAZF1-JJAZ1 with anti-apoptotic activity [`PMID 18772439`_] * identified five new systemic lupus erythematosus susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). [`PMID 19838195`_] * Single-nucleotide polymorphism of rs10486567 in JAZF1 is associated with prostate cancer. [`PMID 20406958`_] * TIP27 (TAK1-interacting protein 27; sequence indentical to JAZF1) functions as a repressor of the nuclear orphan receptor TAK1/TR4. [`PMID 15302918`_] .. _PMID 22113416: http://www.ncbi.nlm.nih.gov/pubmed/22113416 .. _PMID 19542872: http://www.ncbi.nlm.nih.gov/pubmed/19542872 .. _PMID 18264096: http://www.ncbi.nlm.nih.gov/pubmed/18264096 .. _PMID 20075150: http://www.ncbi.nlm.nih.gov/pubmed/20075150 .. _PMID 20379614: http://www.ncbi.nlm.nih.gov/pubmed/20379614 .. _PMID 20878950: http://www.ncbi.nlm.nih.gov/pubmed/20878950 .. _PMID 19602701: http://www.ncbi.nlm.nih.gov/pubmed/19602701 .. _PMID 19998368: http://www.ncbi.nlm.nih.gov/pubmed/19998368 .. _PMID 20879858: http://www.ncbi.nlm.nih.gov/pubmed/20879858 .. _PMID 20690139: http://www.ncbi.nlm.nih.gov/pubmed/20690139 .. _PMID 20450899: http://www.ncbi.nlm.nih.gov/pubmed/20450899 .. _PMID 17197920: http://www.ncbi.nlm.nih.gov/pubmed/17197920 .. _PMID 21890473: http://www.ncbi.nlm.nih.gov/pubmed/21890473 .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 18694974: http://www.ncbi.nlm.nih.gov/pubmed/18694974 .. _PMID 21071540: http://www.ncbi.nlm.nih.gov/pubmed/21071540 .. _PMID 15043312: http://www.ncbi.nlm.nih.gov/pubmed/15043312 .. _PMID 21068098: http://www.ncbi.nlm.nih.gov/pubmed/21068098 .. _PMID 18952825: http://www.ncbi.nlm.nih.gov/pubmed/18952825 .. _PMID 18722875: http://www.ncbi.nlm.nih.gov/pubmed/18722875 .. _PMID 17667554: http://www.ncbi.nlm.nih.gov/pubmed/17667554 .. _PMID 19343178: http://www.ncbi.nlm.nih.gov/pubmed/19343178 .. _PMID 18077430: http://www.ncbi.nlm.nih.gov/pubmed/18077430 .. _PMID 18772439: http://www.ncbi.nlm.nih.gov/pubmed/18772439 .. _PMID 19838195: http://www.ncbi.nlm.nih.gov/pubmed/19838195 .. _PMID 20406958: http://www.ncbi.nlm.nih.gov/pubmed/20406958 .. _PMID 15302918: http://www.ncbi.nlm.nih.gov/pubmed/15302918 .. _JAZF1 Pubmed: PubMed Articles *************** *Recent articles:* * Langberg KA et al. "Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study." J Hum Genet. 2012 Jan;57(1):57-61. `PMID 22113416`_ * Wagner SA et al. "A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles." Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. `PMID 21890473`_ * Orozco G et al. "Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus." Ann Rheum Dis. 2011 Mar;70(3):463-8. `PMID 21068098`_ * Sun J et al. "Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer." Prostate. 2011 Mar 1;71(4):421-30. `PMID 20878950`_ * Wang Y et al. "Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study." Prostate. 2011 Feb 15;71(3):225-31. `PMID 20717903`_ * 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`_ * Chang BL et al. "Validation of genome-wide prostate cancer associations in men of African descent." Cancer Epidemiol Biomarkers Prev. 2011 Jan;20(1):23-32. `PMID 21071540`_ * 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`_ * 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`_ .. _PMID 21890473: http://www.ncbi.nlm.nih.gov/pubmed/21890473 .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 22113416: http://www.ncbi.nlm.nih.gov/pubmed/22113416 .. _PMID 20816152: http://www.ncbi.nlm.nih.gov/pubmed/20816152 .. _PMID 20927120: http://www.ncbi.nlm.nih.gov/pubmed/20927120 .. _PMID 21071540: http://www.ncbi.nlm.nih.gov/pubmed/21071540 .. _PMID 21068098: http://www.ncbi.nlm.nih.gov/pubmed/21068098 .. _PMID 20878950: http://www.ncbi.nlm.nih.gov/pubmed/20878950 .. _PMID 20879858: http://www.ncbi.nlm.nih.gov/pubmed/20879858 .. _PMID 20717903: http://www.ncbi.nlm.nih.gov/pubmed/20717903 *Top Pubmed articles linked to gene JAZF1 matching any search term:* * Peter I et al. "Association of Type 2 Diabetes Susceptibility Loci With One-Year Weight Loss in the Look AHEAD Clinical Trial." Obesity (Silver Spring). 2012 Aug;20(8):1675-82. `PMID 22307069`_ * 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`_ * 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`_ * Langberg KA et al. "Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study." J Hum Genet. 2012 Jan;57(1):57-61. `PMID 22113416`_ * 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`_ * Ciampa J et al. "Application of a novel score test for genetic association incorporating gene-gene interaction suggests functionality for prostate cancer susceptibility regions." Hum Hered. 2011;72(3):182-93. `PMID 22086326`_ * Rees SD et al. "Replication of 13 genome-wide association (GWA)-validated risk variants for type 2 diabetes in Pakistani populations." Diabetologia. 2011 Jun;54(6):1368-74. `PMID 21350842`_ * 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`_ * 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`_ * Zhao J et al. "The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature." BMC Med Genet. 2010 Jun 14;11:96. `PMID 20546612`_ * 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`_ * 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`_ .. _PMID 20889853: http://www.ncbi.nlm.nih.gov/pubmed/20889853 .. _PMID 22113416: http://www.ncbi.nlm.nih.gov/pubmed/22113416 .. _PMID 20644627: http://www.ncbi.nlm.nih.gov/pubmed/20644627 .. _PMID 20546612: http://www.ncbi.nlm.nih.gov/pubmed/20546612 .. _PMID 20816152: http://www.ncbi.nlm.nih.gov/pubmed/20816152 .. _PMID 19862325: http://www.ncbi.nlm.nih.gov/pubmed/19862325 .. _PMID 21602532: http://www.ncbi.nlm.nih.gov/pubmed/21602532 .. _PMID 22086326: http://www.ncbi.nlm.nih.gov/pubmed/22086326 .. _PMID 20927120: http://www.ncbi.nlm.nih.gov/pubmed/20927120 .. _PMID 20581827: http://www.ncbi.nlm.nih.gov/pubmed/20581827 .. _PMID 20075150: http://www.ncbi.nlm.nih.gov/pubmed/20075150 .. _PMID 20712903: http://www.ncbi.nlm.nih.gov/pubmed/20712903 .. _PMID 22275441: http://www.ncbi.nlm.nih.gov/pubmed/22275441 .. _PMID 19794065: http://www.ncbi.nlm.nih.gov/pubmed/19794065 .. _PMID 22307069: http://www.ncbi.nlm.nih.gov/pubmed/22307069 .. _PMID 21153532: http://www.ncbi.nlm.nih.gov/pubmed/21153532 .. _PMID 21350842: http://www.ncbi.nlm.nih.gov/pubmed/21350842 .. _PMID 20161779: http://www.ncbi.nlm.nih.gov/pubmed/20161779 .. _PMID 22377712: http://www.ncbi.nlm.nih.gov/pubmed/22377712