TUBB2A (tubulin beta 2A class IIa)

2007-02-01  

Identity

HGNC
TUBB2A
LOCATION
6p25.2
LOCUSID
7280
ALIAS
CDCBM5,TUBB,TUBB2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7280
MIM: 615101
HGNC: 12412
Ensembl: ENSG00000137267

Variants:

dbSNP: 7280
ClinVar: 7280
TCGA: ENSG00000137267
COSMIC: TUBB2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137267ENST00000333628Q13885

Expression (GTEx)

0
50
100
150
200
250
300
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120645922001Connexin-43 interactions with ZO-1 and alpha- and beta-tubulin.39
227188632012Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.26
247029572014De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.25
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
128614022003Absence of beta-tubulin gene mutation in gastric carcinoma.7
221803092012βII-tubulin and βIII-tubulin mediate sensitivity to peloruside A and laulimalide, but not paclitaxel or vinblastine, in human ovarian carcinoma cells.4
295479972018Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.3
122099672002Lack of beta-tubulin gene mutations in early stage lung cancer.2
224492342012Expression of β-tubulin isotypes in classical Hodgkin's lymphoma.2

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