TUBB4A (tubulin beta 4A class IVa)

2016-10-01 Affiliation

Identity

HGNC

TUBB4A

LOCATION

19p13.3

LOCUSID

10382

ALIAS

DYT4,TUBB4,beta-5

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000104833	ENST00000264071	P04350
ENSG00000104833	ENST00000594075	M0QYM7
ENSG00000104833	ENST00000594276	M0R2D3
ENSG00000104833	ENST00000594290	M0R0X0
ENSG00000104833	ENST00000595324	M0QY37
ENSG00000104833	ENST00000596291	M0R1I1
ENSG00000104833	ENST00000596926	M0QX14
ENSG00000104833	ENST00000597686	M0R278
ENSG00000104833	ENST00000598006	M0R2T4
ENSG00000104833	ENST00000598635	M0QZL7
ENSG00000104833	ENST00000600216	M0R042
ENSG00000104833	ENST00000601152	M0R0M1
ENSG00000104833	ENST00000601640	M0QY85

Expression (GTEx)

100

200

300

400

500

600

700

800

900

1000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Gap junction	KEGG	ko04540
Pathogenic Escherichia coli infection	KEGG	ko05130
Gap junction	KEGG	hsa04540
Pathogenic Escherichia coli infection	KEGG	hsa05130
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Metabolism of proteins	REACTOME	R-HSA-392499
Protein folding	REACTOME	R-HSA-391251
Chaperonin-mediated protein folding	REACTOME	R-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	REACTOME	R-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriC	REACTOME	R-HSA-389957
Formation of tubulin folding intermediates by CCT/TriC	REACTOME	R-HSA-389960
Post-chaperonin tubulin folding pathway	REACTOME	R-HSA-389977
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
AURKA Activation by TPX2	REACTOME	R-HSA-8854518

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23582646	2013	A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.	41
24275654	2014	A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.	40
23424103	2013	Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.	38
23595291	2013	Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.	27
19299461	2009	Nucleocytoplasmic shuttling of soluble tubulin in mammalian cells.	21
21956287	2011	Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.	17
24785942	2014	Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.	13
18553364	2008	A minor beta-tubulin essential for mammalian cell proliferation.	10
26375501	2015	Non-adherent culture induces paclitaxel resistance in H460 lung cancer cells via ERK-mediated up-regulation of βIVa-tubulin.	9
24850488	2014	Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.	8

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