TUB

Chr 11p15.4

TUB bipartite transcription factor

Aliases:: rd5
MANE:: ENST00000299506.3

OMIM: 601197 ↗NCBI: 7275 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TUB · P50607

v62025-08-01

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

Mean pLDDT

69.1/ 100

Low

506 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)15%
Low(50–70)10%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss

Disease associations (Open Targets)

retinitis pigmentosa
0.63
neurodegenerative disease
0.39
autism spectrum disorder
0.33
Retinal dystrophy
0.33
presbycusis
0.24
trauma complication
0.24
breast disorder
0.24
complication
0.24
medical procedure
0.24
Hepatitis
0.22

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

Protein function (UniProt)

Tubby protein homolog

Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages