TLK2 Chromosome 17
Tousled like kinase 2
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What This Gene Does
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. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
Tousled like kinase family
Locus Type
gene with protein product
Location
17q23.2
Ensembl
ENSG00000146872
Associated Conditions (10)
Intellectual disability
autosomal dominant 57
Inborn genetic diseases
Neurodevelopmental disorder
See cases
TLK2-related disorder
Rare genetic intellectual disability
Developmental disorder
TLK2-related neurodevelopmental disorder
Cervical cancer
Key Variants
RS1237399626
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1555639254
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1555669421
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1567948262
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1567948287
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1568028078
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS2147165727
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS2147185286
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability, autosomal dominant 57
Health Risk
RS2545634062
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 57, Inborn genetic diseases
Health Risk
RS1057524147
Likely pathogenic
Health Risk
RS1567974030
Likely pathogenic
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
RS1567995650
Likely pathogenic
Intellectual disability, autosomal dominant 57, Intellectual disability
Health Risk
All Variants (72)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1598940393 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2078645664 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2079640097 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2081105269 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2081593717 | Health Risk | Pathogenic | — |
| RS2082811780 | Health Risk | Pathogenic | — |
| RS2144334211 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2146227158 | Health Risk | Pathogenic | — |
| RS2146616137 | Health Risk | Pathogenic | — |
| RS2146767502 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2146901330 | Health Risk | Pathogenic | See cases, See cases |
| RS2545119735 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2545778305 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2546025428 | Health Risk | Pathogenic | — |
| RS758726258 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS1283838287 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS1567870541 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS1567920106 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2082811958 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2082914686 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |
| RS2146617330 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Cervical cancer |
| RS2147105351 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 57, Intellectual disability |