JAZF1

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

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

OMIM ID:`OMIM ID 606245 `_

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.

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

KEGG Pathways

No pathways found linked to this gene.

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]

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

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