Gene: POU6F2

Alternate names for this Gene: RPF-1|WT5|WTSL

Gene Summary: This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.1

Description of this Gene: POU class 6 homeobox 2

Type of Gene: protein-coding

rs2140910 in POU6F2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

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

rs28599716 in POU6F2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs60464047 in POU6F2 gene and Motion Sickness PMID 25628336 2015 Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.

rs58695218 in POU6F2 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs12674371 in POU6F2 gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs4072719 in POU6F2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs112503449 in POU6F2 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.