TUBB4B (tubulin beta 4B class IVb)

2011-10-01  

Identity

HGNC
TUBB4B
LOCATION
9q34.3
LOCUSID
10383
ALIAS
Beta2,LCAEOD,TUBB2,TUBB2C
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10383
MIM: 602660
HGNC: 20771
Ensembl: ENSG00000188229

Variants:

dbSNP: 10383
ClinVar: 10383
TCGA: ENSG00000188229
COSMIC: TUBB4B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188229ENST00000340384P68371

Expression (GTEx)

0
500
1000
1500
2000
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
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518
Neutrophil degranulationREACTOMER-HSA-6798695

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
386363682024P300 reduces TUBB4B expression to facilitate the biological process of migration and invasion of non-small cell lung cancer cells.0
386628262024Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.2
386363682024P300 reduces TUBB4B expression to facilitate the biological process of migration and invasion of non-small cell lung cancer cells.0
386628262024Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.2
352403252022TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.3
352403252022TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.3
313750122019TUBB4B Downregulation Is Critical for Increasing Migration of Metastatic Colon Cancer Cells.17
313750122019TUBB4B Downregulation Is Critical for Increasing Migration of Metastatic Colon Cancer Cells.17
286489442017Tubulin beta 3 and 4 are involved in the generation of early fibrotic stages.22
291987202017Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.16
286489442017Tubulin beta 3 and 4 are involved in the generation of early fibrotic stages.22
291987202017Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.16
222646002012Regional differences in expression of β-tubulin isoforms in schizophrenia.12
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.24
222646002012Regional differences in expression of β-tubulin isoforms in schizophrenia.12

Citation

Dessen P

TUBB4B (tubulin beta 4B class IVb)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52442/case-report-explorer/case-report-explorer/gene-explorer/