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Aliases for TUBB3 Gene

Aliases for TUBB3 Gene

  • Tubulin Beta 3 Class III 2 3 5
  • Class III Beta-Tubulin 2 3
  • Tubulin Beta-4 Chain 3 4
  • Tubulin Beta-III 3 4
  • TUBB4 3 4
  • Fibrosis Of Extraocular Muscles, Congenital, 3 2
  • Tubulin, Beta 3 Class III 3
  • Tubulin, Beta 3 2
  • CFEOM3A 3
  • BETA-4 3
  • CDCBM1 3
  • CFEOM3 3
  • CDCBM 3
  • FEOM3 3

External Ids for TUBB3 Gene

Previous HGNC Symbols for TUBB3 Gene

  • FEOM3

Previous GeneCards Identifiers for TUBB3 Gene

  • GC16P088514
  • GC16P089987
  • GC16P089991
  • GC16P089996
  • GC16P089999

Summaries for TUBB3 Gene

Entrez Gene Summary for TUBB3 Gene

  • This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

GeneCards Summary for TUBB3 Gene

TUBB3 (Tubulin Beta 3 Class III) is a Protein Coding gene. Diseases associated with TUBB3 include cortical dysplasia, complex, with other brain malformations 1 and fibrosis of extraocular muscles, congenital, 3a. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Transport to the Golgi and subsequent modification. GO annotations related to this gene include G-protein coupled receptor activity and GTPase activity. An important paralog of this gene is TUBB2B.

UniProtKB/Swiss-Prot for TUBB3 Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance.

Tocris Summary for TUBB3 Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBB3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB3 Gene

Genomics for TUBB3 Gene

Regulatory Elements for TUBB3 Gene

Genomic Location for TUBB3 Gene

Chromosome:
16
Start:
89,921,392 bp from pter
End:
89,938,761 bp from pter
Size:
17,370 bases
Orientation:
Plus strand

Genomic View for TUBB3 Gene

Genes around TUBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB3 Gene

Proteins for TUBB3 Gene

  • Protein details for TUBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13509-TBB3_HUMAN
    Recommended name:
    Tubulin beta-3 chain
    Protein Accession:
    Q13509
    Secondary Accessions:
    • A8K854
    • Q9BTZ0
    • Q9BW10

    Protein attributes for TUBB3 Gene

    Size:
    450 amino acids
    Molecular mass:
    50433 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

    Alternative splice isoforms for TUBB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBB3 Gene

Proteomics data for TUBB3 Gene at MOPED

Post-translational modifications for TUBB3 Gene

  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable).
  • Ubiquitination at Lys 362 and Lys 379
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TUBB3 (TUBB3)

No data available for DME Specific Peptides for TUBB3 Gene

Domains & Families for TUBB3 Gene

Gene Families for TUBB3 Gene

Suggested Antigen Peptide Sequences for TUBB3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13509

UniProtKB/Swiss-Prot:

TBB3_HUMAN :
  • The highly acidic C-terminal region may bind cations such as calcium.
  • Belongs to the tubulin family.
Domain:
  • The highly acidic C-terminal region may bind cations such as calcium.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB3: view

Function for TUBB3 Gene

Molecular function for TUBB3 Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. TUBB3 plays a critical role in proper axon guidance and mantainance.

Gene Ontology (GO) - Molecular Function for TUBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with TUBB3: view
genes like me logo Genes that share phenotypes with TUBB3: view

Human Phenotype Ontology for TUBB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB3 Gene

Localization for TUBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB3 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB3 Gene COMPARTMENTS Subcellular localization image for TUBB3 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3
mitochondrion 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TUBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IEA,IDA 21525035
GO:0030424 axon IEA --
GO:0030425 dendrite IEA,ISS --
genes like me logo Genes that share ontologies with TUBB3: view

Pathways & Interactions for TUBB3 Gene

genes like me logo Genes that share pathways with TUBB3: view

SIGNOR curated interactions for TUBB3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0007067 mitotic nuclear division IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBB3: view

Drugs & Compounds for TUBB3 Gene

(22) Drugs for TUBB3 Gene - From: Novoseek, DrugBank, Tocris, FDA Approved Drugs, HMDB, DGIdb, and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ixabepilone Approved, Investigational Pharma Target, inhibitor 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 104
Docetaxel Approved May 1996, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1844
Paclitaxel Approved Pharma inhibitor, Biomarker, binder Tubulin and Bcl2 inhibitor, Taxanes 2621
Ixempra Approved October 2007 Pharma 0

(9) Additional Compounds for TUBB3 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2
genes like me logo Genes that share compounds with TUBB3: view

Transcripts for TUBB3 Gene

Unigene Clusters for TUBB3 Gene

Tubulin, beta 3 class III:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - -
SP9: -
SP10:
SP11: - -

Relevant External Links for TUBB3 Gene

GeneLoc Exon Structure for
TUBB3
ECgene alternative splicing isoforms for
TUBB3

Expression for TUBB3 Gene

mRNA expression in normal human tissues for TUBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB3 Gene

This gene is overexpressed in Fetal Brain (27.9), Bone (10.7), Frontal cortex (7.1), Spinal cord (7.0), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TUBB3 Gene



SOURCE GeneReport for Unigene cluster for TUBB3 Gene Hs.511743

mRNA Expression by UniProt/SwissProt for TUBB3 Gene

Q13509-TBB3_HUMAN
Tissue specificity: Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues.
genes like me logo Genes that share expression patterns with TUBB3: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for TUBB3 Gene

Orthologs for TUBB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUBB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBB3 35
  • 99.19 (n)
  • 99.78 (a)
-- 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBB3 36
  • 100 (a)
OneToOne
TUBB3 35
  • 93.41 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia TUBB3 35
  • 92.96 (n)
  • 100 (a)
-- 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb3 16
Tubb3 36
  • 100 (a)
OneToMany
Tubb3 35
  • 90.74 (n)
  • 99.78 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tubb3 35
  • 90.96 (n)
  • 99.78 (a)
chicken
(Gallus gallus)
Aves TUBB3 35
  • 91.54 (n)
  • 99.55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76202 35
tubb3 35
  • 81.99 (n)
  • 99.33 (a)
zebrafish
(Danio rerio)
Actinopterygii FP102463.1 36
  • 82 (a)
OneToMany
Species with no ortholog for TUBB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBB3 Gene

ENSEMBL:
Gene Tree for TUBB3 (if available)
TreeFam:
Gene Tree for TUBB3 (if available)

Paralogs for TUBB3 Gene

Paralogs for TUBB3 Gene

Pseudogenes.org Pseudogenes for TUBB3 Gene

genes like me logo Genes that share paralogs with TUBB3: view

Variants for TUBB3 Gene

Sequence variations from dbSNP and Humsavar for TUBB3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_062758 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A)
VAR_062759 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A)
VAR_062760 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A)
VAR_062761 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A)
VAR_062762 Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A)

Structural Variations from Database of Genomic Variants (DGV) for TUBB3 Gene

Variant ID Type Subtype PubMed ID
nsv428331 CNV Gain+Loss 18775914
dgv3009n71 CNV Loss 21882294
nsv907429 CNV Loss 21882294
nsv907433 CNV Loss 21882294
dgv3014n71 CNV Loss 21882294
dgv3015n71 CNV Loss 21882294
nsv907442 CNV Loss 21882294
nsv907443 CNV Loss 21882294
nsv509640 CNV Insertion 20534489
nsv525671 CNV Loss 19592680
nsv907444 CNV Loss 21882294
esv2660542 CNV Deletion 23128226

Variation tolerance for TUBB3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB3 Gene

HapMap Linkage Disequilibrium report
TUBB3
Human Gene Mutation Database (HGMD)
TUBB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB3 Gene

Disorders for TUBB3 Gene

MalaCards: The human disease database

(24) MalaCards diseases for TUBB3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

TBB3_HUMAN
  • Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. {ECO:0000269 PubMed:20074521}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. {ECO:0000269 PubMed:20829227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBB3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB3
genes like me logo Genes that share disorders with TUBB3: view

No data available for Genatlas for TUBB3 Gene

Publications for TUBB3 Gene

  1. Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents. (PMID: 9473684) Ranganathan S. … Hudes G.R. (Biochim. Biophys. Acta 1998) 2 3 4 23 67
  2. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID: 20074521) Tischfield M.A. … Engle E.C. (Cell 2010) 2 3
  3. The role of betaIII tubulin in predicting chemoresistance in non-small cell lung cancer. (PMID: 19828208) SA"ve P. … Dumontet C. (Lung Cancer 2010) 3 23
  4. Expression of class III beta-tubulin correlates with unfavorable survival outcome in patients with resected non-small cell lung cancer. (PMID: 20087230) Koh Y. … Bang Y.J. (J Thorac Oncol 2010) 3 23
  5. Roles of beta-tubulin residues Ala428 and Thr429 in microtubule formation in vivo. (PMID: 19074767) Joe P.A. … LudueA+a R.F. (J. Biol. Chem. 2009) 3 23

Products for TUBB3 Gene

Sources for TUBB3 Gene

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