Gene: TLK1

Alternate names for this Gene: PKU-beta

Gene Summary: The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: tousled like kinase 1

Type of Gene: protein-coding

rs10183486 in TLK1 gene and Age at menopause PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs55996750 in TLK1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2723242 in TLK1 gene and Platelet Component Distribution Width Measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12618898 in TLK1 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.