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Aliases for TUBB2A Gene

Aliases for TUBB2A Gene

  • Tubulin Beta 2A Class IIa 2 3 5
  • Class IIa Beta-Tubulin 2 3
  • TUBB2 3 4
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin, Beta 2A Class IIa 3
  • Tubulin, Beta Polypeptide 2
  • Tubulin Beta Class IIa 4
  • Tubulin, Beta 2A 2
  • Tubulin, Beta 2 2
  • CDCBM5 3
  • TUBB 3

External Ids for TUBB2A Gene

Previous HGNC Symbols for TUBB2A Gene

  • TUBB
  • TUBB2

Previous GeneCards Identifiers for TUBB2A Gene

  • GC06M003101
  • GC06M003024

Summaries for TUBB2A Gene

Entrez Gene Summary for TUBB2A Gene

  • Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

GeneCards Summary for TUBB2A Gene

TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations 5 and Chondroid Chordoma. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.

UniProtKB/Swiss-Prot for TUBB2A 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 (By similarity).

Tocris Summary for TUBB2A 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 TUBB2A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB2A Gene

Genomics for TUBB2A Gene

Regulatory Elements for TUBB2A Gene

Enhancers for TUBB2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TUBB2A on UCSC Golden Path with GeneCards custom track

Promoters for TUBB2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBB2A on UCSC Golden Path with GeneCards custom track

Genomic Location for TUBB2A Gene

Chromosome:
6
Start:
3,153,666 bp from pter
End:
3,157,549 bp from pter
Size:
3,884 bases
Orientation:
Minus strand

Genomic View for TUBB2A Gene

Genes around TUBB2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB2A Gene

Proteins for TUBB2A Gene

  • Protein details for TUBB2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13885-TBB2A_HUMAN
    Recommended name:
    Tubulin beta-2A chain
    Protein Accession:
    Q13885
    Secondary Accessions:
    • Q6FGZ8
    • Q8IWR2

    Protein attributes for TUBB2A Gene

    Size:
    445 amino acids
    Molecular mass:
    49907 Da
    Quaternary structure:
    • Interacts with ZNRF1 (By similarity). Part of a complex composed at least of ASCL2, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity). 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.

neXtProt entry for TUBB2A Gene

Proteomics data for TUBB2A Gene at MOPED

Post-translational modifications for TUBB2A Gene

  • 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 58
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB2A Gene

Domains & Families for TUBB2A Gene

Gene Families for TUBB2A Gene

Suggested Antigen Peptide Sequences for TUBB2A Gene

Graphical View of Domain Structure for InterPro Entry

Q13885

UniProtKB/Swiss-Prot:

TBB2A_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB2A: view

Function for TUBB2A Gene

Molecular function for TUBB2A 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 (By similarity).

Gene Ontology (GO) - Molecular Function for TUBB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with TUBB2A: view
genes like me logo Genes that share phenotypes with TUBB2A: view

Human Phenotype Ontology for TUBB2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TUBB2A Gene

miRTarBase miRNAs that target TUBB2A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB2A Gene

Localization for TUBB2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB2A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB2A Gene COMPARTMENTS Subcellular localization image for TUBB2A gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for TUBB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TUBB2A: view

Pathways & Interactions for TUBB2A Gene

genes like me logo Genes that share pathways with TUBB2A: view

SIGNOR curated interactions for TUBB2A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBB2A: view

Drugs & Compounds for TUBB2A Gene

(9) Drugs for TUBB2A Gene - From: DrugBank, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ixabepilone Approved, Investigational Pharma 0
Vinblastine Approved Pharma inhibitor 396
Vincristine Approved, Investigational Pharma binder Microtubule disrupter,antitumor agent 870
Vinorelbine Approved, Investigational Pharma inhibitor 357
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 105

(2) Additional Compounds for TUBB2A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBB2A Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2
genes like me logo Genes that share compounds with TUBB2A: view

Transcripts for TUBB2A Gene

mRNA/cDNA for TUBB2A Gene

Unigene Clusters for TUBB2A Gene

Tubulin, beta 2A class IIa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB2A Gene

No ASD Table

Relevant External Links for TUBB2A Gene

GeneLoc Exon Structure for
TUBB2A
ECgene alternative splicing isoforms for
TUBB2A

Expression for TUBB2A Gene

mRNA expression in normal human tissues for TUBB2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB2A Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Cortex (x4.5), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for TUBB2A Gene

This gene is overexpressed in Fetal Brain (12.1), Spinal cord (7.6), Retina (7.1), and Bone (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBB2A Gene



SOURCE GeneReport for Unigene cluster for TUBB2A Gene Hs.654543

mRNA Expression by UniProt/SwissProt for TUBB2A Gene

Q13885-TBB2A_HUMAN
Tissue specificity: High expression in brain, where it represents 30% of all beta-tubulins.
genes like me logo Genes that share expression patterns with TUBB2A: view

Protein tissue co-expression partners for TUBB2A Gene

Primer Products

Orthologs for TUBB2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC100295973 35
  • 95.58 (n)
  • 100 (a)
TUBB2B 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb2a 35
  • 91.76 (n)
  • 100 (a)
Tubb2a 16
Tubb2a 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB2A 35
  • 99.69 (n)
  • 99.77 (a)
TUBB2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb2a 35
  • 92.51 (n)
  • 100 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB2A 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 99 (a)
ManyToMany
TUBB2B 36
  • 99 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 98 (a)
ManyToMany
-- 36
  • 99 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb4a 35
  • 83.02 (n)
  • 97.44 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:112335 35
  • 83.49 (n)
  • 97.44 (a)
TUBB2A 36
  • 96 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005293 35
  • 75.93 (n)
  • 87.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta betaTub97EF 35
  • 81.09 (n)
  • 89.07 (a)
betaTub85D 36
  • 95 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mec-7 36
  • 93 (a)
ManyToMany
tbb-4 36
  • 93 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 36
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB7 35
  • 72.33 (n)
  • 86.28 (a)
rice
(Oryza sativa)
Liliopsida Os06g0671900 35
  • 77.3 (n)
  • 88.01 (a)
Species with no ortholog for TUBB2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBB2A Gene

ENSEMBL:
Gene Tree for TUBB2A (if available)
TreeFam:
Gene Tree for TUBB2A (if available)

Paralogs for TUBB2A Gene

Paralogs for TUBB2A Gene

genes like me logo Genes that share paralogs with TUBB2A: view

Variants for TUBB2A Gene

Sequence variations from dbSNP and Humsavar for TUBB2A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_036197 A colorectal cancer sample
VAR_071168 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5)
VAR_071169 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5)
rs1054309 -- 3,155,674(-) TCTGT(C/T)AGGTC reference, synonymous-codon, utr-variant-5-prime
rs1054310 -- 3,155,662(-) GGACC(A/C)TTCGG reference, synonymous-codon, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TUBB2A Gene

Variant ID Type Subtype PubMed ID
nsv462614 CNV Gain 19166990
nsv883405 CNV Gain 21882294
nsv883406 CNV Loss 21882294
esv2731488 CNV Deletion 23290073
esv2624823 CNV Deletion 19546169
esv4042 CNV Deletion 18987735
esv7105 CNV Loss 19470904

Variation tolerance for TUBB2A Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB2A Gene

Human Gene Mutation Database (HGMD)
TUBB2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB2A Gene

Disorders for TUBB2A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUBB2A Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBB2A_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include seizures, global developmental delay, and various brain malformations such as a diffuse simplified gyral pattern with reduced volume of white matter, globular basal ganglia, thin and dysmorphic corpus callosum, mild brainstem hypoplasia with a flat pons, mild cerebellar vermis hypoplasia, and mildly enlarged posterior fossa. {ECO:0000269 PubMed:24702957}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBB2A

Genetic Association Database (GAD)
TUBB2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB2A
genes like me logo Genes that share disorders with TUBB2A: view

No data available for Genatlas for TUBB2A Gene

Publications for TUBB2A Gene

  1. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 2 3 4 67
  2. Ski regulates Hippo and TAZ signaling to suppress breast cancer progression. (PMID: 25670202) Rashidian J. … Luo K. (Sci Signal 2015) 3
  3. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  4. Noncanonical regulation of alkylation damage resistance by the OTUD4 deubiquitinase. (PMID: 25944111) Zhao Y. … Mosammaparast N. (EMBO J. 2015) 3
  5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3

Products for TUBB2A Gene

Sources for TUBB2A Gene

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