AlphaFold predicted structure
TUBB3 · Q13509
Mean pLDDT
91.4/ 100
Very high
450 residues
Confidence breakdown
- Very high(≥ 90)82%
- Confident(70–90)12%
- Low(50–70)3%
- Very low(< 50)2%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
TUBB3
Chr 16q24.3tubulin beta 3 class III
- Aliases:
- beta-4, CFEOM3, CFEOM3A
- MANE:
- ENST00000315491.12
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCerebellar hypoplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCongenital fibrosis of the extraocular muscles
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownHereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
0.80Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
0.75complex cortical dysplasia with other brain malformations 1
0.75congenital fibrosis of the extraocular muscles
0.66breast cancer
0.63neoplasm
0.62prostate cancer
0.62non-small cell lung carcinoma
0.62breast carcinoma
0.62Hodgkins lymphoma
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tubulin beta-3 chain
Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms (PubMed:34996871, PubMed:38305685, PubMed:38609661). Below the cap, alpha-beta tubulin heterodimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin (PubMed:34996871, PubMed:38609661). TUBB3 plays a critical role in proper axon guidance and maintenance (PubMed:20074521). Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Plays a role in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977)
Diseases associated with TUBB3
Curated MONDO disease pages that list TUBB3 among their top associated genes.