Gene: PML

Alternate names for this Gene: MYL|PP8675|RNF71|TRIM19

Gene Summary: The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: PML nuclear body scaffold

Type of Gene: protein-coding

rs5742915 in PML gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs5742915 in PML gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs5742915 in PML gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

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

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs10851869 in PML gene and Exfoliation Syndrome PMID 24938310 2014 Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.

rs5742915 in PML gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs5742915 in PML gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs3784562 in PML gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs8039584 in PML gene and Myopia, Degenerative PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.

rs5742915 in PML gene and Osteitis Deformans PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

rs5742915 in PML gene and Paget Disease PMID 21623375 2011 Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

rs743580 in PML gene and Physical Activity Measurement PMID 30531941 2018 GWAS identifies 14 loci for device-measured physical activity and sleep duration.

PMID 29899525 2018 Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.

rs9479 in PML gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7183908 in PML 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.

rs9479 in PML gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.