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 gen... See more...

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 Chain 3 4
  • Tubulin, Beta 2A 2 3
  • TUBB2 3 4
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin, Beta Polypeptide 2
  • Tubulin Beta Class IIa 4
  • 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 Tubulin, Beta. Among its related pathways are ERK Signaling and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for TUBB2A Gene

Genomics for TUBB2A Gene

GeneHancer (GH) Regulatory Elements for TUBB2A Gene

Promoters and enhancers for TUBB2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBB2A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBB2A

Top Transcription factor binding sites by QIAGEN in the TUBB2A gene promoter:
  • AML1a
  • C/EBPbeta
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-E2
  • Olf-1
  • YY1

Genomic Locations for TUBB2A Gene

Genomic Locations for TUBB2A Gene
chr6:3,153,666-3,157,549
(GRCh38/hg38)
Size:
3,884 bases
Orientation:
Minus strand
chr6:3,153,900-3,157,783
(GRCh37/hg19)
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

  • 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).
  • 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).
  • 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.
  • Ubiquitination at Lys324
  • 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

GenScript: Design optimal peptide antigens:
  • TUBB2A protein (A5D906_HUMAN)
  • TUBB2A protein (A5D907_HUMAN)
  • Tubulin beta-2A chain (TBB2A_HUMAN)

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 IBA 21873635
GO:0005515 protein binding IPI 21044950
GO:0005525 GTP binding IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB2A

Clone Products

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
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA,IDA 21525035
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with TUBB2A: view

Pathways & Interactions for TUBB2A Gene

PathCards logo

SuperPathways for TUBB2A Gene

SuperPathway Contained pathways
1 Sertoli-Sertoli Cell Junction Dynamics
.38
.38
.38
.38
.36
.36
2 G-Beta Gamma Signaling
.32
.32
.30
.30
3 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
4 Development Slit-Robo signaling
.44
.44
.30
5 GPCR Pathway
.58
.58
genes like me logo Genes that share pathways with TUBB2A: view

Pathways by source for TUBB2A Gene

10 GeneGo (Thomson Reuters) pathways for TUBB2A Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
20 Qiagen pathways for TUBB2A Gene
  • 14-3-3 Induced Intracellular Signaling
  • Breast Cancer Regulation by Stathmin1
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Adherens Junctions

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:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0001764 neuron migration IBA 21873635
GO:0007017 microtubule-based process IBA 21873635
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 216
Vincristine Approved, Investigational Pharma binder Microtubule disrupter,antitumor agent 1058
Vinorelbine Approved, Investigational Pharma inhibitor 435
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
Agonist 33069-62-4

(5) Tocris Compounds for TUBB2A Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
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

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB2A

Clone 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

Expression for TUBB2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TUBB2A Gene



Protein tissue co-expression partners for TUBB2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
Head and neck:
  • brain
  • head
genes like me logo Genes that share expression patterns with TUBB2A: view

Orthologs for TUBB2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB2A Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB2A 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBB2B 31
  • 100 (a)
OneToOne
LOC100295973 30
  • 95.58 (n)
chimpanzee
(Pan troglodytes)
Mammalia TUBB2A 31 30
  • 99.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb2a 30
  • 92.51 (n)
mouse
(Mus musculus)
Mammalia Tubb2a 17 31 30
  • 91.76 (n)
chicken
(Gallus gallus)
Aves -- 31
  • 99 (a)
ManyToMany
TUBB2B 31
  • 99 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 99 (a)
ManyToMany
-- 31
  • 98 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb4a 30
  • 83.02 (n)
zebrafish
(Danio rerio)
Actinopterygii TUBB2A 31
  • 96 (a)
OneToMany
zgc:112335 30
  • 83.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 31
  • 95 (a)
OneToMany
betaTub97EF 30
  • 81.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005293 30
  • 75.93 (n)
worm
(Caenorhabditis elegans)
Secernentea tbb-4 31
  • 93 (a)
ManyToMany
mec-7 31
  • 93 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 31
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB7 30
  • 72.33 (n)
rice
(Oryza sativa)
Liliopsida Os06g0671900 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB2A: view image

Paralogs for TUBB2A Gene

(28) SIMAP similar genes for TUBB2A Gene using alignment to 3 proteins:

  • TBB2A_HUMAN
  • A5D906_HUMAN
  • A5D907_HUMAN
genes like me logo Genes that share paralogs with TUBB2A: view

Variants for TUBB2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBB2A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
635530 Uncertain Significance: Cortical dysplasia, complex, with other brain malformations 5 3,154,930(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
680824 Benign: not provided 3,157,120(-) C/G INTRON_VARIANT
715718 Likely Benign: not provided 3,154,517(-) C/A SYNONYMOUS_VARIANT
786534 Likely Benign: not provided 3,154,334(-) G/A SYNONYMOUS_VARIANT
800924 Likely Pathogenic: Cortical dysplasia, complex, with other brain malformations 5 3,154,023(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for TUBB2A Gene

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)

Additional Variant Information 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

(9) MalaCards diseases for TUBB2A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, 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.

Additional Disease Information for 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 54
  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 54
  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 54
  4. LINC01554-Mediated Glucose Metabolism Reprogramming Suppresses Tumorigenicity in Hepatocellular Carcinoma via Downregulating PKM2 Expression and Inhibiting Akt/mTOR Signaling Pathway. (PMID: 30809309) Zheng YL … Guan XY (Theranostics 2019) 3 54
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 54

Products for TUBB2A Gene

Sources for TUBB2A Gene