Gene: TFAP2B

Alternate names for this Gene: AP-2B|AP2-B|PDA2

Gene Summary: This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives.

Gene is located in Chromosome: 6

Location in Chromosome : 6p12.3

Description of this Gene: transcription factor AP-2 beta

Type of Gene: protein-coding

rs2206271 in TFAP2B gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2206271 in TFAP2B gene and Blood urea nitrogen measurement PMID 22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2206271 in TFAP2B gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

PMID 26604143 2016 Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.

rs2272903 in TFAP2B gene and Body mass index procedure PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

rs80338910 in TFAP2B gene and CHAR SYNDROME PMID 10802654 2000 Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.

PMID 15684060 2005 Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.

PMID 11505339 2001 Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs4715207 in TFAP2B gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs760900 in TFAP2B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2272903 in TFAP2B gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

rs2206277 in TFAP2B gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs2206277 in TFAP2B gene and Metabolic Syndrome X PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs2207136 in TFAP2B gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs2206277 in TFAP2B gene and Obesity PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs987237 in TFAP2B gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs3798519 in TFAP2B gene and Urolithiasis PMID 30975718 2019 Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.

rs987237 in TFAP2B gene and Waist Circumference PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.

rs987237 in TFAP2B gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs987237 in TFAP2B gene and adiposity PMID 19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

rs4628086 in TFAP2B gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.