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Aliases for TUBB2A Gene

Aliases for TUBB2A Gene

  • Tubulin, Beta 2A Class IIa 2 3
  • Class IIa Beta-Tubulin 2 3
  • Tubulin Beta Class IIa 3 4
  • TUBB2 3 4
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin, Beta Polypeptide 2
  • Tubulin Beta-2A Chain 3
  • Tubulin, Beta 2A 2
  • Tubulin, Beta 2 2
  • DJ40E16.7 3
  • 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

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. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB3.

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 (+). Microtubules act as a scaffold to determine cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the spindle fibers for separating chromosomes during mitosis.

Gene Wiki entry for TUBB2A Gene

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

Genomics for TUBB2A Gene

Regulatory Elements for TUBB2A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TUBB2A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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, C11orf30/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 Lys58, Lys103, Lys216, Lys252, Lys297, Lys324, Lys336, Lys350, Lys362, and Lys379
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB2A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TUBB2A Gene

Domains for TUBB2A Gene

Gene Families for TUBB2A Gene

HGNC:
  • TUB :Tubulins

Suggested Antigen Peptide Sequences for TUBB2A Gene

Graphical View of Domain Structure for InterPro Entry

Q13885

UniProtKB/Swiss-Prot:

TBB2A_HUMAN :
  • Q13885
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:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB2A: view

Animal Model Products

miRNA for TUBB2A Gene

miRTarBase miRNAs that target TUBB2A

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
plasma membrane 4
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TUBB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IDA 21525035
GO:0031982 vesicle IDA 24769233
GO:0043234 protein complex --
genes like me logo Genes that share ontologies with TUBB2A: view

Pathways for TUBB2A Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TUBB2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0006457 protein folding TAS --
GO:0007017 microtubule-based process 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 TUBB2A: view

Compounds for TUBB2A Gene

(5) Tocris Compounds for TUBB2A Gene

Compound Action Cas Number
ABT 751 Inhibitor of microtubule polymerization; antimitotic and antitumor [141430-65-1]
Colchicine Inhibitor of tubulin [64-86-8]
Docetaxel Microtubule stabilizer [114977-28-5]
Harmine Potent and selective Dyrk1A inhibitor [442-51-3]
Vinblastine sulfate Disrupts microtubules [143-67-9]

(1) HMDB Compounds for TUBB2A Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBB2A

Primer Products

Flow Cytometry Products

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) (4.9), Brain - Cortex (4.5), Brain - Frontal Cortex (BA9) (4.4), and Brain - Hypothalamus (4.2).

Integrated Proteomics: protein expression 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 expressions with TUBB2A: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia TUBB2A 35
  • 99.69 (n)
  • 99.77 (a)
TUBB2A 36
  • 100 (a)
OneToOne
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
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB2A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb2a 35
  • 92.51 (n)
  • 100 (a)
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 TUBB2A 36
  • 96 (a)
OneToMany
zgc:112335 35
  • 83.49 (n)
  • 97.44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005293 35
  • 75.93 (n)
  • 87.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 36
  • 95 (a)
OneToMany
betaTub97EF 35
  • 81.09 (n)
  • 89.07 (a)
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 MAF
rs733011 -- 3,158,000(-) CAATT(A/T)CCGGC upstream-variant-2KB
rs909961 -- 3,157,120(+) CCGTA(C/G)CCCCG intron-variant
rs909962 -- 3,157,165(+) TGCCA(A/G)CCGCG intron-variant
rs909963 -- 3,157,208(+) AAAGG(C/G)CCCCG intron-variant
rs909964 -- 3,157,564(+) AGCTC(A/G)GTCTT upstream-variant-2KB

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

Relevant External Links for TUBB2A Gene

HapMap Linkage Disequilibrium report
TUBB2A
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

MalaCards: The human disease database. (1) Diseases for TUBB2A Gene including...

Search for TUBB2A Gene in 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
genes like me logo Genes that share disorders with TUBB2A: view

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
  2. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. (PMID: 24702957) Cushion T.D. … Dobyns W.B. (Am. J. Hum. Genet. 2014) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Nuclear betaII-tubulin associates with the activated notch receptor to modulate notch signaling. (PMID: 15548702) Yeh T.S. … Lin J.J. (Cancer Res. 2004) 3
  5. HIV-1 Tat protein enhances microtubule polymerization. (PMID: 15691386) de Mareuil J. … Loret E.P. (Retrovirology 2005) 3

Products for TUBB2A Gene

Sources for TUBB2A Gene

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