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Aliases for TUBB2B Gene

Aliases for TUBB2B Gene

  • Tubulin, Beta 2B Class IIb 2 3
  • Class IIb Beta-Tubulin 2 3
  • PMGYSA 3 6
  • Tubulin, Beta Polypeptide Paralog 3
  • Class II Beta-Tubulin Isotype 3
  • Tubulin Beta-2B Chain 3
  • Tubulin, Beta 2B 2
  • BA506K6.1 3

External Ids for TUBB2B Gene

Summaries for TUBB2B Gene

Entrez Gene Summary for TUBB2B Gene

  • The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq, Mar 2010]

GeneCards Summary for TUBB2B Gene

TUBB2B (Tubulin, Beta 2B Class IIb) is a Protein Coding gene. Diseases associated with TUBB2B include polymicrogyria, symmetric or asymmetric and ocular motility disease. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and EphB-EphrinB Signaling. 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 TUBB2B 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). TUBB2B is implicated in neuronal migration.

Tocris Summary for TUBB2B 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.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB2B Gene

Genomics for TUBB2B Gene

Genomic Location for TUBB2B Gene

Start:
3,224,261 bp from pter
End:
3,231,730 bp from pter
Size:
7,470 bases
Orientation:
Minus strand

Genomic View for TUBB2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TUBB2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB2B Gene

Regulatory Elements for TUBB2B Gene

Proteins for TUBB2B Gene

  • Protein details for TUBB2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVA1-TBB2B_HUMAN
    Recommended name:
    Tubulin beta-2B chain
    Protein Accession:
    Q9BVA1
    Secondary Accessions:
    • A8K068

    Protein attributes for TUBB2B Gene

    Size:
    445 amino acids
    Molecular mass:
    49953 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

neXtProt entry for TUBB2B Gene

Proteomics data for TUBB2B Gene at MOPED

Post-translational modifications for TUBB2B 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).
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys58, Lys103, Lys216, Lys252, Lys297, Lys324, Lys336, Lys350, Lys362, and Lys379

Other Protein References for TUBB2B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB2B Gene

Domains for TUBB2B Gene

Gene Families for TUBB2B Gene

HGNC:
  • TUB :Tubulins

UniProtKB/Swiss-Prot:

TBB2B_HUMAN
Family:
  • Belongs to the tubulin family.:
    • Q9BVA1
genes like me logo Genes that share domains with TUBB2B: view

Function for TUBB2B Gene

Molecular function for TUBB2B 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). TUBB2B is implicated in neuronal migration.

Gene Ontology (GO) - Molecular Function for TUBB2B 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 21078624
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB2B: view
genes like me logo Genes that share phenotypes with TUBB2B: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TUBB2B Gene

Localization for TUBB2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB2B Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB2B Gene COMPARTMENTS Subcellular localization image for TUBB2B gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
cytosol 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TUBB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IDA 21525035
GO:0043234 protein complex --
genes like me logo Genes that share ontologies with TUBB2B: view

Pathways for TUBB2B Gene

genes like me logo Genes that share pathways with TUBB2B: view

Gene Ontology (GO) - Biological Process for TUBB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IMP 19465910
GO:0006184 obsolete GTP catabolic process --
GO:0006457 protein folding TAS --
GO:0007017 microtubule-based process IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with TUBB2B: view

Compounds for TUBB2B Gene

(5) Tocris Compounds for TUBB2B Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin [64-86-8]
Docetaxel Microtubule stabilizer [114977-28-5]
Epothilone B Microtubule stabilization agent; promotes tubulin polymerization [152044-54-7]
Vinblastine sulfate Disrupts microtubules [143-67-9]
Vinorelbine ditartrate Selective mitotic microtubule antagonist [125317-39-7]

(1) HMDB Compounds for TUBB2B Gene

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

(1) Drugbank Compounds for TUBB2B Gene

genes like me logo Genes that share compounds with TUBB2B: view

Transcripts for TUBB2B Gene

mRNA/cDNA for TUBB2B Gene

Unigene Clusters for TUBB2B Gene

Tubulin, beta 2B class IIb:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB2B Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2:
SP3: -

Relevant External Links for TUBB2B Gene

GeneLoc Exon Structure for
TUBB2B
ECgene alternative splicing isoforms for
TUBB2B

Expression for TUBB2B Gene

mRNA expression in normal human tissues for TUBB2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB2B Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (6.0), Brain - Nucleus accumbens (basal ganglia) (5.5), Brain - Substantia nigra (4.9), Brain - Caudate (basal ganglia) (4.9), Brain - Amygdala (4.4), Brain - Putamen (basal ganglia) (4.4), and Brain - Hypothalamus (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBB2B Gene

SOURCE GeneReport for Unigene cluster for TUBB2B Gene Hs.300701

mRNA Expression by UniProt/SwissProt for TUBB2B Gene

Q9BVA1-TBB2B_HUMAN
Tissue specificity: High expression in brain.
genes like me logo Genes that share expressions with TUBB2B: view

Orthologs for TUBB2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBB2B 36
  • 99.78 (n)
  • 100 (a)
TUBB2B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TUBB2B 36
  • 94.76 (n)
  • 99.78 (a)
TUBB2B 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB2B 36
  • 94.68 (n)
  • 100 (a)
TUBB2B 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb2b 36
  • 91.54 (n)
  • 100 (a)
Tubb2b 16
Tubb2b 37
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb2b 36
  • 91.69 (n)
  • 100 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 99 (a)
ManyToMany
TUBB2B 36
  • 89.21 (n)
  • 99.55 (a)
TUBB2B 37
  • 100 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 98 (a)
ManyToMany
-- 37
  • 100 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75628 36
tubb2b 36
  • 82.25 (n)
  • 99.55 (a)
zebrafish
(Danio rerio)
Actinopterygii tubb2 36
TUBB2A 37
  • 95 (a)
OneToMany
zgc:123194 36
  • 84.57 (n)
  • 96.74 (a)
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 36
  • 82.95 (n)
  • 96.51 (a)
betaTub85D 37
  • 95 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mec-7 36
  • 75.66 (n)
  • 94.19 (a)
mec-7 37
  • 93 (a)
ManyToMany
tbb-4 37
  • 93 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 37
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB2 36
  • 73.72 (n)
  • 86.98 (a)
rice
(Oryza sativa)
Liliopsida Os03g0661300 36
  • 79.38 (n)
  • 85.12 (a)
Species with no ortholog for TUBB2B:
  • 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)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 TUBB2B Gene

ENSEMBL:
Gene Tree for TUBB2B (if available)
TreeFam:
Gene Tree for TUBB2B (if available)

Paralogs for TUBB2B Gene

Paralogs for TUBB2B Gene

genes like me logo Genes that share paralogs with TUBB2B: view

Variants for TUBB2B Gene

Sequence variations from dbSNP and Humsavar for TUBB2B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs4145035 -- 3,229,200(+) CATCC(A/C)ctggc upstream-variant-2KB
rs7747852 -- 3,229,243(+) GGAGC(G/T)CAGCC upstream-variant-2KB
rs7760583 -- 3,228,911(+) AGCGC(G/T)TGCAC upstream-variant-2KB
rs7761898 -- 3,229,003(+) GCGCG(C/T)GTGTG upstream-variant-2KB
rs7772006 -- 3,223,975(+) ATTGT(A/G)TTAGT downstream-variant-500B

Relevant External Links for TUBB2B Gene

HapMap Linkage Disequilibrium report
TUBB2B
Human Gene Mutation Database (HGMD)
TUBB2B

No data available for Structural Variations from Database of Genomic Variants (DGV) for TUBB2B Gene

Disorders for TUBB2B Gene

(1) OMIM Diseases for TUBB2B Gene (612850)

UniProtKB/Swiss-Prot

TBB2B_HUMAN
  • Polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269 PubMed:19465910}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TUBB2B Gene

genes like me logo Genes that share disorders with TUBB2B: view

Publications for TUBB2B Gene

  1. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (PMID: 19465910) Jaglin X.H. … Chelly J. (Nat. Genet. 2009) 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 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. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  5. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3

Products for TUBB2B Gene

Sources for TUBB2B Gene

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