Gene: TBL2

Alternate names for this Gene: WBSCR13|WS-betaTRP

Gene Summary: This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: transducin beta like 2

Type of Gene: protein-coding

rs11974409 in TBL2 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs2286276 in TBL2 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs11974409 in TBL2 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs11974409 in TBL2 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs17145738 in TBL2 gene and Hypertriglyceridemia PMID 27599772 2017 A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.

rs17145738 in TBL2 gene and Low density lipoprotein cholesterol measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11974409 in TBL2 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

rs11974409 in TBL2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs11974409 in TBL2 gene and Triglycerides measurement PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

rs17145738 in TBL2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.