Identity
HGNC
LOCATION
6p25.2
LOCUSID
ALIAS
CDCBM5,TUBB,TUBB2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7280
MIM: 615101
HGNC: 12412
Ensembl: ENSG00000137267
Variants:
dbSNP: 7280
ClinVar: 7280
TCGA: ENSG00000137267
COSMIC: TUBB2A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000137267 | ENST00000333628 | Q13885 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33547136 | 2022 | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. | 2 |
| 35930870 | 2022 | Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy. | 1 |
| 33547136 | 2022 | Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. | 2 |
| 35930870 | 2022 | Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy. | 1 |
| 32571897 | 2021 | Defining the phenotypical spectrum associated with variants in TUBB2A. | 8 |
| 32571897 | 2021 | Defining the phenotypical spectrum associated with variants in TUBB2A. | 8 |
| 32203252 | 2020 | De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. | 4 |
| 33006960 | 2020 | Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. | 4 |
| 32203252 | 2020 | De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay. | 4 |
| 33006960 | 2020 | Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. | 4 |
| 30621030 | 2019 | Over-Expression of βII-Tubulin and Especially Its Localization in Cell Nuclei Correlates with Poorer Outcomes in Colorectal Cancer. | 10 |
| 30621030 | 2019 | Over-Expression of βII-Tubulin and Especially Its Localization in Cell Nuclei Correlates with Poorer Outcomes in Colorectal Cancer. | 10 |
| 29547997 | 2018 | Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. | 14 |
| 29547997 | 2018 | Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. | 14 |
| 28840640 | 2017 | De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay. | 7 |
Citation
Dessen P
TUBB2A (tubulin beta 2A class IIa)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46226/tubb2a
