TUBA8 (tubulin alpha 8)

2016-10-01  

Identity

HGNC
TUBA8
LOCATION
22q11.21
LOCUSID
51807
ALIAS
CDCBM8,TUBAL2

Other Information

Locus ID:

NCBI: 51807
MIM: 605742
HGNC: 12410
Ensembl: ENSG00000183785

Variants:

dbSNP: 51807
ClinVar: 51807
TCGA: ENSG00000183785
COSMIC: TUBA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183785ENST00000316027Q9NY65
ENSG00000183785ENST00000330423Q9NY65
ENSG00000183785ENST00000416740C9J2C0
ENSG00000183785ENST00000426208C9K0S6
ENSG00000183785ENST00000608634V9GZ17

Expression (GTEx)

0
5
10
15
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
ApoptosisKEGGko04210
Tight junctionKEGGko04530
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
ApoptosisKEGGhsa04210
Tight junctionKEGGhsa04530
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
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
163809052005Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.131
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198961102009Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.56
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
204660942010Tuba8 is expressed at low levels in the developing mouse and human brain.8
218728252011Role of a novel CAR-induced gene, TUBA8, in hepatocellular carcinoma cell lines.2
280630042017Tubulin alpha 8 is expressed in hepatic stellate cells and is induced in transformed hepatocytes.1
306278182019Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.1

Citation

Dessen P

TUBA8 (tubulin alpha 8)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56396/tuba8