TLK2

Chr 17q23.2

tousled like kinase 2

Aliases:: PKU-ALPHA, MGC44450
MANE:: ENST00000346027.10

OMIM: 608439 ↗NCBI: 11011 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TLK2 · Q86UE8

v62025-08-01

Predicted Aligned Error matrix for TLK2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.6/ 100

Confident

772 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)15%
Low(50–70)1%
Very low(< 50)36%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual disability, autosomal dominant 57
0.82
hereditary disease
0.52
neurodevelopmental disorder
0.44
neurodegenerative disease
0.39
Intellectual disability
0.37
complex neurodevelopmental disorder
0.37
autoimmune disorder of central nervous system
0.37
brain cancer
0.28
developmental disability
0.27
syndromic microphthalmia
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Serine/threonine-protein kinase tousled-like 2

Serine/threonine-protein kinase involved in the process of chromatin assembly and probably also DNA replication, transcription, repair, and chromosome segregation (PubMed:10523312, PubMed:11470414, PubMed:12660173, PubMed:12955071, PubMed:29955062, PubMed:33323470, PubMed:9427565). Phosphorylates the chromatin assembly factors ASF1A and ASF1B (PubMed:11470414, PubMed:20016786, PubMed:29955062, PubMed:35136069). Phosphorylation of ASF1A prevents its proteasome-mediated degradation, thereby enhancing chromatin assembly (PubMed:20016786). Negative regulator of amino acid starvation-induced autophagy (PubMed:22354037)