tubulin beta 2A class IIa
Annotations refreshed 10 hours ago.
Diagnostic Grade (Green)
DDG2P
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 unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCerebral vascular malformations
Hereditary ataxia with onset in adulthood
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedcomplex cortical dysplasia with other brain malformations 5
Genetic central nervous system malformation
breast cancer
breast carcinoma
non-small cell lung carcinoma
neoplasm
prostate cancer
breast neoplasm
Hodgkins lymphoma
gout
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tubulin beta-2A 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
Curated MONDO disease pages that list TUBB2A among their top associated genes.
TUBB2A · Q13885
Mean pLDDT
92.3/ 100
Very high
445 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
