TBCK

Chr 4q24

TBC1 domain containing kinase

Aliases:: MGC16169, HSPC302, Fy-1, FERRY1
MANE:: ENST00000394708.7

OMIM: 616899 ↗NCBI: 93627 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TBCK · Q8TEA7

v62025-08-01

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

Mean pLDDT

87.0/ 100

Confident

893 residues

Confidence breakdown

Very high(≥ 90)65%
Confident(70–90)23%
Low(50–70)7%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypotonia, infantile, with psychomotor retardation and characteristic facies 3
0.75
hypotonia, infantile, with psychomotor retardation and characteristic facies
0.55
hereditary disease
0.51
Seizure
0.43
Abnormality of the nervous system
0.43
Global developmental delay
0.41
syndromic complex neurodevelopmental disorder
0.37
Intellectual disability
0.34
neurodevelopmental disorder
0.34
intestinal impaction
0.27

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

Protein function (UniProt)

TBC domain-containing protein kinase-like protein

Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). Also involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:23977024, PubMed:27040691). Involved in the control of actin-cytoskeleton organization (PubMed:23977024)