Gene: TLK2

Alternate names for this Gene: HsHPK|MRD57|PKU-ALPHA

Gene Summary: This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.2

Description of this Gene: tousled like kinase 2

Type of Gene: protein-coding

rs146385050 in TLK2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs11657101 in TLK2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1555661506 in TLK2 gene and Dysmorphic features PMID 23869254 2012 The Tousled-Like Kinases as Guardians of Genome Integrity.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 10523312 1999 Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication.

rs12949468 in TLK2 gene and Longevity PMID 25918517 2015 Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.

rs1283838287 in TLK2 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 PMID 29861108 2018 De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

rs1555661506 in TLK2 gene and Muscle hypotonia PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 23869254 2012 The Tousled-Like Kinases as Guardians of Genome Integrity.

PMID 10523312 1999 Mammalian homologues of the plant Tousled gene code for cell-cycle-regulated kinases with maximal activities linked to ongoing DNA replication.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

rs35127411 in TLK2 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.