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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TLK2
tousled like kinase 2
Chromosome 17 Β· 17q23.2
NCBI Gene: 11011Ensembl: ENSG00000146872.19HGNC: HGNC:11842UniProt: A0A804HJZ9
77PubMed Papers
21Diseases
0Drugs
89Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleolusprotein bindingintermediate filamentATP bindingintellectual disability, autosomal dominant 57genetic disorderNeurodevelopmental disorderneurodegenerative disease
✦AI Summary

TLK2 (Tousled-like kinase 2) is a serine/threonine protein kinase that plays critical roles in chr17 organization, DNA repair, and cellular stress responses. TLK2 functions as a key regulator of chr17 loop formation by phosphorylating DYNLL1, which enhances its interaction with CTCF to promote chr17 hub formation 1. The kinase is involved in cancer stemness plasticity, where elevated TLK2 expression correlates with poor prognosis in breast cancer patients 1. TLK2 also regulates amino acid metabolism in gastric cancer through the mTOR/ASNS axis, where it interacts with transcription factor ATF4 to promote ASNS expression 2. Under pathological conditions, calcium overload enhances TLK2 activity, leading to nuclear envelope disruption and neuronal cell death through a proposed "CaToptosis" pathway 3. Loss-of-function mutations in TLK2 cause intellectual developmental disorder, autosomal dominant 57 (MRD57), characterized by neurodevelopmental delay, behavioral disorders, gastrointestinal problems, and distinctive facial dysmorphisms 45. Functionally impaired TLK2 variants demonstrate reduced kinase activity and altered chr17 states, making cells more susceptible to DNA damage 6. These findings establish TLK2 as a critical regulator of chr17 dynamics with significant implications for neurodevelopment and cancer biology.

Sources cited
1
TLK2 functions as a key regulator of chromatin loop formation by phosphorylating DYNLL1 and correlates with poor prognosis in breast cancer
PMID: 41120304
2
TLK2 regulates amino acid metabolism in gastric cancer through the mTOR/ASNS axis and interacts with ATF4
PMID: 37542132
3
Calcium overload enhances TLK2 activity leading to nuclear envelope disruption and neuronal death via CaToptosis pathway
PMID: 40210858
4
Loss-of-function TLK2 mutations cause MRD57 with neurodevelopmental delay, behavioral disorders, and facial dysmorphisms
PMID: 29861108
5
Additional clinical features of TLK2-related disorder including sleep disturbance and urological abnormalities
PMID: 34821460
6
TLK2 mutations impair kinase activity and cause relaxed chromatin states with increased DNA damage susceptibility
PMID: 33323470
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 57Open Targets
0.82Strong
genetic disorderOpen Targets
0.52Moderate
Neurodevelopmental disorderOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
Intellectual disabilityOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.35Weak
brain cancerOpen Targets
0.32Weak
response to antihypertensive drugOpen Targets
0.29Weak
developmental disorder of mental healthOpen Targets
0.27Weak
Rare genetic intellectual disabilityOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
autism spectrum disorderOpen Targets
0.19Weak
neurofibromatosis type 1Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
Gorham-Stout diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
Intellectual developmental disorder, autosomal dominant 57UniProt
Pathogenic Variants89
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter)Likely pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 11
NM_006852.6(TLK2):c.1121+1G>APathogenic
Intellectual disability, autosomal dominant 57|not provided|Cervical cancer
β˜…β˜…β˜†β˜†2025
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 546
NM_006852.6(TLK2):c.2089C>T (p.Arg697Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 697
NM_006852.6(TLK2):c.1784C>T (p.Ser595Leu)Pathogenic
Intellectual disability, autosomal dominant 57|not provided|Intellectual disability
β˜…β˜…β˜†β˜†2024β†’ Residue 595
NM_006852.6(TLK2):c.364C>T (p.Arg122Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 57
β˜…β˜…β˜†β˜†2024β†’ Residue 122
NM_006852.6(TLK2):c.907C>T (p.Arg303Ter)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 303
NM_006852.6(TLK2):c.181C>T (p.Arg61Ter)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 61
NM_006852.6(TLK2):c.839_840del (p.Gln280fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 280
NM_006852.6(TLK2):c.367C>T (p.Arg123Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 57
β˜…β˜…β˜†β˜†2023β†’ Residue 123
NM_006852.6(TLK2):c.754C>T (p.Gln252Ter)Likely pathogenic
See cases|TLK2-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 252
NM_006852.6(TLK2):c.784C>T (p.Arg262Ter)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 262
NM_006852.6(TLK2):c.2107C>T (p.Arg703Ter)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 703
NM_006852.6(TLK2):c.968+1G>CPathogenic
Intellectual disability, autosomal dominant 57|Neurodevelopmental disorder
β˜…β˜…β˜†β˜†2022
NM_006852.6(TLK2):c.1550+1G>APathogenic
not provided|Intellectual disability, autosomal dominant 57
β˜…β˜…β˜†β˜†2021
NM_006852.6(TLK2):c.968+1G>APathogenic
Intellectual disability, autosomal dominant 57|TLK2-related neurodevelopmental disorder
β˜…β˜…β˜†β˜†2020
NM_006852.6(TLK2):c.1487A>G (p.His496Arg)Likely pathogenic
Intellectual disability, autosomal dominant 57
β˜…β˜…β˜†β˜†2019β†’ Residue 496
NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter)Pathogenic
Intellectual disability, autosomal dominant 57|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 259
NM_006852.6(TLK2):c.1465G>A (p.Ala489Thr)Likely pathogenic
Intellectual disability, autosomal dominant 57
β˜…β˜†β˜†β˜†2026β†’ Residue 489
NM_006852.6(TLK2):c.1122-167A>GLikely pathogenic
Intellectual disability, autosomal dominant 57
β˜…β˜†β˜†β˜†2026
View on ClinVar β†—
Related Genes
CABIN1Protein interaction100%ASF1AProtein interaction100%SRSF1Protein interaction90%ASF1BProtein interaction87%TLK1Protein interaction77%STK38LShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
86%
Heart
62%
Lung
57%
Ovary
52%
Liver
38%
Gene Interaction Network
Click a node to explore
TLK2CABIN1ASF1ASRSF1ASF1BTLK1STK38L
PROTEIN STRUCTURE
Preparing viewer…
PDB7LO0 Β· 2.71 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.04 [0.02–0.10]
RankingsWhere TLK2 stands among ~20K protein-coding genes
  • #6,219of 20,598
    Most Researched77
  • #849of 5,498
    Most Pathogenic Variants89 Β· top quartile
  • #68of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedTLK2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Proteogenomics connects somatic mutations to signalling in breast cancer.
PMID: 27251275
Nature Β· 2016
1.00
2
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
PMID: 29861108
Am J Hum Genet Β· 2018
0.90
3
A TLK2-mediated calcium-driven cell death pathway links neuronal degeneration to nuclear envelope disruption.
PMID: 40210858
Nat Commun Β· 2025
0.80
4
Report of one case with de novo mutation in TLK2 and literature review.
PMID: 39538191
BMC Pediatr Β· 2024
0.70
5
Chromatin looping-based CRISPR screen identifies TLK2 as chromatin loop formation regulator in cancer stemness plasticity.
PMID: 41120304
Nat Commun Β· 2025
0.60