TBCD
Tubulin Folding Cofactor D
Gene Information Card
| Symbol | TBCD |
|---|---|
| Full Name | Tubulin Folding Cofactor D |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 6908 ncbi.nlm.nih.gov/gene/6908 |
| Ensembl ID | ENSG00000141556 |
| UniProt ID | Q9BTW9 |
| OMIM ID | 604649 |
| HGNC ID | 11581 |
| Aliases | TBCD, beta-tubulin cofactor D |
Description
TBCD encodes tubulin folding cofactor D, a protein essential for the proper folding and dimerization of alpha- and beta-tubulin, critical for microtubule assembly and dynamics. Mutations in TBCD are associated with autosomal recessive PEHO-like syndrome and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| PEHO-like syndrome | Loss-of-function mutations impair tubulin folding, disrupting microtubule function in neurons | ClinVar, OMIM |
| Cortical dysplasia, complex, with other brain malformations | Missense variants alter protein stability and tubulin binding | ClinVar |
| Neurodegeneration with brain iron accumulation | Potential dysregulation of microtubule-dependent transport | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HeLa | 10.8 | Cervical carcinoma |
| HEK293 | 9.5 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.260C>T (p.Pro87Leu) | Missense | Rare | Reduced protein stability, impaired tubulin binding |
| c.745C>T (p.Arg249*) | Nonsense | Rare | Loss of function, premature truncation |
| c.1132G>A (p.Gly378Arg) | Missense | Rare | Dominant-negative effect on microtubule polymerization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants like p.Gly378Arg that interfere with wild-type TBCD function.
View complete mutation data：
Gene Ontology (GO)
| • tubulin complex assembly (GO:0007021) | • protein polymerization (GO:0051258) |
| • microtubule (GO:0005874) | • GTP binding (GO:0005525) |
Pathways
• Tubulin folding pathway (Reactome: R-HSA-389977)
• Microtubule-dependent transport (Reactome: R-HSA-190840)
Protein Summary
TBCD is a 1192-amino acid protein that acts as a cofactor in the tubulin folding pathway, binding beta-tubulin and facilitating its dimerization with alpha-tubulin. It localizes to the centrosome and is involved in microtubule nucleation and stability.
Related Services
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|---|---|---|---|---|
| No Data | ||||
