TUBB6 (tubulin beta 6 class V)

2010-11-01  

Identity

HGNC
LOCATION
18p11.21
LOCUSID
ALIAS
FPVEPD,HsT1601,TUBB-5
FUSION GENES

Other Information

Locus ID:

NCBI: 84617
MIM: 615103
HGNC: 20776
Ensembl: ENSG00000176014

Variants:

dbSNP: 84617
ClinVar: 84617
TCGA: ENSG00000176014
COSMIC: TUBB6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176014ENST00000317702Q9BUF5
ENSG00000176014ENST00000586653K7ESQ3
ENSG00000176014ENST00000586691K7EK43
ENSG00000176014ENST00000586810K7EPE5
ENSG00000176014ENST00000590103K7ESM5
ENSG00000176014ENST00000590388K7ERA8
ENSG00000176014ENST00000590693K7EL29
ENSG00000176014ENST00000590967K7EJZ4
ENSG00000176014ENST00000591208K7EN98
ENSG00000176014ENST00000591463K7ES63
ENSG00000176014ENST00000591909K7EJ64
ENSG00000176014ENST00000592683K7EQT3

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingREACTOMER-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriCREACTOMER-HSA-389957
Formation of tubulin folding intermediates by CCT/TriCREACTOMER-HSA-389960
Post-chaperonin tubulin folding pathwayREACTOMER-HSA-389977

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201915642010Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.72
242756542014A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation.40
224385652012Gender influences the class III and V β-tubulin ability to predict poor outcome in colorectal cancer.18
241737172014A cellular genome-wide association study reveals human variation in microtubule stability and a role in inflammatory cell death.7
229039392012Characterization of a human βV-tubulin antibody and expression of this isotype in normal and malignant human tissue.5
297626662018Discovery and Validation of Methylation Biomarkers for Ulcerative Colitis Associated Neoplasia.3
290168632017A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.0

Citation

Dessen P

TUBB6 (tubulin beta 6 class V)

Atlas Genet Cytogenet Oncol Haematol. 2010-11-01

Online version: http://atlasgeneticsoncology.org/gene/51758/tubb6