TBCD

Chr 17q25.3

tubulin folding cofactor D

MANE:: ENST00000355528.9

OMIM: 604649 ↗NCBI: 6904 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

TBCD · Q9BTW9

v62025-08-01

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

Mean pLDDT

90.2/ 100

Very high

1,192 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)17%
Low(50–70)2%
Very low(< 50)4%

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
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
0.84
neurodegenerative disease
0.53
hereditary disease
0.42
seborrhea-like dermatitis with psoriasiform elements
0.39
mixed connective tissue disease
0.30
alcohol drinking
0.24
preeclampsia
0.24
peripheral vascular disease
0.24
seborrheic keratosis
0.18
protozoa infectious disease
0.18

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

Protein function (UniProt)

Tubulin-specific chaperone D

Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374)