Identity
HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
DYT4,TUBB4,beta-5
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: 10382
MIM: 602662
HGNC: 20774
Ensembl: ENSG00000104833
Variants:
dbSNP: 10382
ClinVar: 10382
TCGA: ENSG00000104833
COSMIC: TUBB4A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38762926 | 2024 | Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India. | 0 |
| 38762926 | 2024 | Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India. | 0 |
| 35871212 | 2023 | Novel TUBB4A mutation in a family with hereditary spastic paraplegia. | 0 |
| 36972930 | 2023 | [Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum]. | 0 |
| 37529938 | 2023 | Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism. | 0 |
| 35871212 | 2023 | Novel TUBB4A mutation in a family with hereditary spastic paraplegia. | 0 |
| 36972930 | 2023 | [Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum]. | 0 |
| 37529938 | 2023 | Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism. | 0 |
| 34997144 | 2022 | In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease. | 1 |
| 35275727 | 2022 | H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects. | 5 |
| 35589707 | 2022 | TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3β/β-catenin signalling. | 15 |
| 34997144 | 2022 | In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease. | 1 |
| 35275727 | 2022 | H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects. | 5 |
| 35589707 | 2022 | TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3β/β-catenin signalling. | 15 |
| 32943487 | 2021 | DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. | 6 |
Citation
Dessen P
TUBB4A (tubulin beta 4A class IVa)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56600/tubb4a-(tubulin-beta-4a-class-iva)
