Gene: PKNOX2

Alternate names for this Gene: PREP2

Gene Summary: Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009].

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.2

Description of this Gene: PBX/knotted 1 homeobox 2

Type of Gene: protein-coding

rs750338 in PKNOX2 gene and Alcohol-Induced Disorders PMID 21703634 2011 A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.

rs750338 in PKNOX2 gene and Alcohol-Related Disorders PMID 21703634 2011 A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.

rs750338 in PKNOX2 gene and Alcoholic Intoxication, Chronic PMID 21703634 2011 The top hit of PKNOX2 (rs750338 with p=1.47 × 10(-6)) in the meta-analysis was replicated with the Australian Twin-Family Study of 778 families (p=1.39 × 10(-2)) Furthermore, several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample (top SNPs were rs2269655, rs856613, and rs10496768 with p=4.58 × 10(-3), 2.1 × 10(-4), and 2.86 × 10(-3) for KIAA0040, NRD1 and THSD7B, respectively).

rs7107770 in PKNOX2 gene and Autosomal dominant compelling helio ophthalmic outburst syndrome PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs138466039 in PKNOX2 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs12284594 in PKNOX2 gene and Substance Dependence PMID 21298047 2011 The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.

rs12284594 in PKNOX2 gene and Substance-Related Disorders PMID 21298047 2011 The nuclear transcription factor PKNOX2 is a candidate gene for substance dependence in European-origin women.

rs648090 in PKNOX2 gene and Testicular Germ Cell Tumor PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.