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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
  • Tubulin, Beta 2A 2 3
  • TUBB2 3 4
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin, Beta Polypeptide 2
  • Tubulin Beta Class IIa 4
  • Tubulin Beta-2A Chain 3
  • 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 Complex Cortical Dysplasia With Other Brain Malformations. Among its related pathways are Development Slit-Robo signaling and Cytoskeleton remodeling Neurofilaments. 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

Additional gene information for TUBB2A Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H003156 2 FANTOM5 Ensembl ENCODE dbSUPER 63.2 -4.6 -4559 11 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 TUBB2A TUBB2B TUBB2BP1 PRPF4B PSMG4 C6orf201 RIPK1 BPHL LOC105374889
GH06H003171 0.9 ENCODE 43.3 -14.7 -14737 1 TBP HDGF PKNOX1 FOXA2 ARNT CHAMP1 EGR1 EGR2 ZBTB2 SMAD5 TUBB2A TUBB2B PSMG4 BPHL TUBB2BP1 LOC105374889
GH06H003246 1.8 VISTA FANTOM5 Ensembl ENCODE 20.9 -90.6 -90606 3 HDAC1 FOXA2 MLX NFRKB DMAP1 ZBTB40 ZSCAN9 CBX5 EGR1 FOS TUBB2A TUBB2B ENSG00000228170 BPHL SLC22A23 PIR45758
GH06H003207 1.7 FANTOM5 Ensembl ENCODE 13 -51.5 -51542 3 PKNOX1 SIN3A ZNF766 FOS SP3 ZHX2 JUNB REST ZNF592 KAT8 TUBB2B PSMG4 TUBB2A BPHL ENSG00000228170 SERPINB9 GC06P003208 GC06P003221
GH06H003125 1.5 Ensembl ENCODE dbSUPER 11.7 +31.4 31412 1 ATF1 MLX ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ATF7 SP5 TUBB2B TUBB2A ENSG00000228170 PSMG4 BPHL GC06P003150
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000192183 49 2201 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 SP3 SP5 MXD4

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

Post-translational modifications for TUBB2A 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 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). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Ubiquitination at posLast=5858
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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).

Phenotypes From GWAS Catalog for TUBB2A Gene

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:0005515 protein binding IPI 21044950
GO:0005525 GTP binding IEA --
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

CRISPR Products

miRNA for TUBB2A Gene

miRTarBase miRNAs that target TUBB2A

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBB2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBB2A gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 21525035
GO:0015630 microtubule cytoskeleton IDA --
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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBB2A: view

Drugs & Compounds for TUBB2A Gene

(10) 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 Epothilone B analog;microtubule-stabilizing agent 0
Vinblastine Approved Pharma inhibitor 429
Vincristine Approved, Investigational Pharma binder Microtubule disrupter,antitumor agent 954
Vinorelbine Approved, Investigational Pharma inhibitor 383
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 116

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolastatin 10 trifluoroacetate
MMAE
474645-27-7

(5) Tocris Compounds for TUBB2A Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Docetaxel Microtubule stabilizer 114977-28-5
Dolastatin 10 trifluoroacetate Tubulin polymerization inhibitor
MMAE Potent dolastatin 10 analog; antitumor 474645-27-7
Vinblastine sulfate Disrupts microtubules 143-67-9
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBB2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TUBB2A Gene



Protein tissue co-expression partners for TUBB2A Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBB2A Gene:

TUBB2A

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.

Evidence on tissue expression from TISSUES for TUBB2A Gene

  • Nervous system(5)
  • Eye(4.4)
  • Skin(4.4)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB2A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with TUBB2A: view

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 TUBB2B 34
  • 100 (a)
OneToOne
LOC100295973 33
  • 95.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB2A 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB2A 33 34
  • 99.69 (n)
rat
(Rattus norvegicus)
Mammalia Tubb2a 33
  • 92.51 (n)
mouse
(Mus musculus)
Mammalia Tubb2a 33 16 34
  • 91.76 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 99 (a)
ManyToMany
TUBB2B 34
  • 99 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 99 (a)
ManyToMany
-- 34
  • 98 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb4a 33
  • 83.02 (n)
zebrafish
(Danio rerio)
Actinopterygii TUBB2A 34
  • 96 (a)
OneToMany
zgc:112335 33
  • 83.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 34
  • 95 (a)
OneToMany
betaTub97EF 33
  • 81.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005293 33
  • 75.93 (n)
worm
(Caenorhabditis elegans)
Secernentea mec-7 34
  • 93 (a)
ManyToMany
tbb-4 34
  • 93 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 34
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB7 33
  • 72.33 (n)
rice
(Oryza sativa)
Liliopsida Os06g0671900 33
  • 77.3 (n)
Species where no ortholog for TUBB2A was found in the sources mined by GeneCards:
  • 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

Variants for TUBB2A Gene

Sequence variations from dbSNP and Humsavar for TUBB2A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs587777324 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]
rs774124807 A colorectal cancer sample 3,155,718(+) GGCCC(A/G)AGGTA upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_071168 Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763]
rs2808001 Pathogenic 3,154,458(+) GGTCT(A/G)CGTTC reference, missense
rs886037663 Pathogenic 3,154,460(-) CTGAA(C/G)GCAGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv2624823 CNV deletion 19546169
esv2731488 CNV deletion 23290073
esv3576092 CNV gain 25503493
esv4042 CNV loss 18987735
esv7105 CNV loss 19470904
nsv1145089 CNV deletion 24896259
nsv462614 CNV gain 19166990
nsv600846 CNV gain 21841781
nsv965675 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB2A

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

Disorders for TUBB2A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 5
  • complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations
  • cdcbm
lung mucoepidermoid carcinoma
  • mucoepidermoid carcinoma of lung
chondroid chordoma
charcot-marie-tooth disease, axonal, type 2k
  • charcot-marie-tooth disease, axonal, autosomal dominant, type 2k
- 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 AJ … Beck S (Nature 2003) 2 3 4 60
  2. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. (PMID: 24702957) Cushion TD … Dobyns WB (American journal of human genetics 2014) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Destabilization of Atoh1 by E3 Ubiquitin Ligase Huwe1 and Casein Kinase 1 Is Essential for Normal Sensory Hair Cell Development. (PMID: 27542412) Cheng YF … Edge AS (The Journal of biological chemistry 2016) 3 60

Products for TUBB2A Gene

Sources for TUBB2A Gene

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