Gene: KLF12

Alternate names for this Gene: AP-2rep|AP2REP|HSPC122

Gene Summary: Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 13

Location in Chromosome : 13q22.1

Description of this Gene: Kruppel like factor 12

Type of Gene: protein-coding

rs2025424 in KLF12 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1324913 in KLF12 gene and Age at menarche PMID 25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs58598658 in KLF12 gene and Alcohol-Induced Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs58598658 in KLF12 gene and Alcohol-Related Disorders PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs58598658 in KLF12 gene and Alcoholic Intoxication, Chronic PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs9318213 in KLF12 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs4454843 in KLF12 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7335976 in KLF12 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1886512 in KLF12 gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs66504755 in KLF12 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs58598658 in KLF12 gene and Major Depressive Disorder PMID 29071344 2017 Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.

rs2325562 in KLF12 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs1886512 in KLF12 gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs728926 in KLF12 gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

rs2025424 in KLF12 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs12877581 in KLF12 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs12429889 in KLF12 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs12429889 in KLF12 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs9600233 in KLF12 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35185444 in KLF12 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.