Gene table of TUBB3 : tubulin beta 3 class III

Gene-disease associations table

Disease IDDisease nameSource of annotation with TUBB3OMIM linkNumber of associated genesgenes
PS614039CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONSClinVar, OMIM, HUMSAVAR link to OMIM 6TUBB3, TUBB, KIF5C, KIF2A, TUBB2A, TUBG1
PS135700FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 4TUBB3, PHOX2A, COL25A1, KIF21A

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Annotation of the gene TUBB3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation

The gene is in the tandem Group 730, together with the genes:

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Pathogenic Escherichia coli infectionhsa051306.99
Phagosomehsa041455.27
Gap junctionhsa045406.24
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Separation of Sister ChromatidsR-HSA-24678135.55
Signaling by HedgehogR-HSA-53583515.79
Immune SystemR-HSA-1682562.37
Signaling by Rho GTPasesR-HSA-1943154.43
Recycling pathway of L1R-HSA-4372397.62
Cell CycleR-HSA-16401703.89
Formation of tubulin folding intermediates by CCT/TriCR-HSA-3899608.66
Gap junction assemblyR-HSA-1908618.03
Microtubule-dependent trafficking of connexons from Golgi to the plasma membraneR-HSA-1908409.28
Assembly of the primary ciliumR-HSA-56178335.44
Adaptive Immune SystemR-HSA-12802183.19
Developmental BiologyR-HSA-12667383.48
Recruitment of mitotic centrosome proteins and complexesR-HSA-3802706.68
Resolution of Sister Chromatid CohesionR-HSA-25002576.18
Hedgehog 'off' stateR-HSA-56107876.19
Mitotic Metaphase and AnaphaseR-HSA-25553965.45
Gap junction traffickingR-HSA-1908287.59
Intraflagellar transportR-HSA-56209247.25
Cell Cycle, MitoticR-HSA-692784.16
Factors involved in megakaryocyte development and platelet productionR-HSA-9832315.88
G2/M TransitionR-HSA-692756.06
RHO GTPases Activate ForminsR-HSA-56632206.01
L1CAM interactionsR-HSA-3737606.19
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingR-HSA-3899588.23
Prefoldin mediated transfer of substrate to CCT/TriCR-HSA-3899578.28
Centrosome maturationR-HSA-3802876.68
Mitotic G2-G2/M phasesR-HSA-4532746.04
Metabolism of proteinsR-HSA-3924993.41
Membrane TraffickingR-HSA-1999915.26
M PhaseR-HSA-688864.87
Transport of connexons to the plasma membraneR-HSA-1908729.18
Translocation of GLUT4 to the plasma membraneR-HSA-14451486.77
Mitotic AnaphaseR-HSA-688825.46
Gap junction trafficking and regulationR-HSA-1578587.52
Post-chaperonin tubulin folding pathwayR-HSA-3899778.81
Chaperonin-mediated protein foldingR-HSA-3904667.4
Vesicle-mediated transportR-HSA-56536564.33
RHO GTPase EffectorsR-HSA-1952584.94
Protein foldingR-HSA-3912517.23
Recruitment of NuMA to mitotic centrosomesR-HSA-3803208.46
HemostasisR-HSA-1095823.98
RHO GTPases activate IQGAPsR-HSA-56264678.34
MHC class II antigen presentationR-HSA-21322956.01
Mitotic PrometaphaseR-HSA-688776.08
Axon guidanceR-HSA-4224753.93
KinesinsR-HSA-9831897.7
Organelle biogenesis and maintenanceR-HSA-18522414.63
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
structural constituent of cytoskeletonGO:00052005.12
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
structural molecule activityGO:00051983.1
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
peptide bindingGO:00422774.22
pyrophosphatase activityGO:00164623.04
nucleotide bindingGO:00001661.96
guanyl ribonucleotide bindingGO:00325613.73
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
GTP bindingGO:00055253.78
hydrolase activityGO:00167871.9
amide bindingGO:00332184.14
GTPase activityGO:00039244.31
nucleoside-triphosphatase activityGO:00171113.09
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on acid anhydridesGO:00168173.03
guanyl nucleotide bindingGO:00190013.73
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19