AlphaFold predicted structure
TUBB · P07437
Mean pLDDT
92.1/ 100
Very high
444 residues
Confidence breakdown
- Very high(≥ 90)84%
- 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
TUBB
Chr 6p21.33tubulin beta class I
- Aliases:
- OK/SW-cl.56, MGC16435, M40, Tubb5
- MANE:
- ENST00000327892.13
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAtaxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
multiple benign circumferential skin creases on limbs 1
0.74complex cortical dysplasia with other brain malformations 6
0.67Genetic central nervous system malformation
0.66breast cancer
0.63non-small cell lung carcinoma
0.62breast carcinoma
0.62neoplasm
0.60prostate cancer
0.60Hodgkins lymphoma
0.59breast neoplasm
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Tubulin beta chain
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin
Diseases associated with TUBB
Curated MONDO disease pages that list TUBB among their top associated genes.