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Aliases for TUBB2B Gene

Aliases for TUBB2B Gene

  • Tubulin Beta 2B Class IIb 2 3 5
  • Class IIb Beta-Tubulin 2 3
  • Tubulin, Beta 2B 2 3
  • Tubulin, Beta Polypeptide Paralog 3
  • Class II Beta-Tubulin Isotype 3
  • Tubulin Beta-2B Chain 3
  • BA506K6.1 3
  • PMGYSA 3

External Ids for TUBB2B Gene

Previous GeneCards Identifiers for TUBB2B Gene

  • GC06M003172
  • GC06M003173
  • GC06M003102

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 Tukel Syndrome. Among its related pathways are Development Slit-Robo signaling 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 TUBB2A.

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 (+).

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

Genomics for TUBB2B Gene

Regulatory Elements for TUBB2B Gene

Enhancers for TUBB2B 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
GH06F003156 1.5 FANTOM5 ENCODE 53.3 +69.6 69623 11.6 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TUBB2A TUBB2B PSMG4 TUBB2BP1 RIPK1 FAM136BP ENSG00000228365 LOC107987516 ENSG00000272277 BPHL
GH06F003137 1.3 Ensembl ENCODE 45 +92.9 92852 2.8 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF207 TUBB2B TUBB2BP1 BPHL PSMG4 GC06P003150
GH06F003246 1.8 VISTA FANTOM5 Ensembl ENCODE 17 -16.4 -16425 3.1 HDAC1 ATF1 CBX3 MLX ZFP64 DMAP1 ZSCAN9 ZBTB40 ZNF48 ZNF335 TUBB2A TUBB2B ENSG00000228170 BPHL SLC22A23 PIR45758
GH06F003207 1.7 FANTOM5 Ensembl ENCODE 17.5 +22.6 22640 3.2 PKNOX1 ARNT SIN3A SLC30A9 ZNF766 FOS KLF13 ZNF263 SP3 JUNB TUBB2B PSMG4 TUBB2A BPHL RIPK1 ENSG00000228170 SERPINB9 GC06P003208 GC06P003221
GH06F003175 1.2 Ensembl ENCODE 16.1 +55.2 55185 1.5 HDGF PKNOX1 ATF1 BRCA1 FOS JUNB NCOA1 NFIL3 SMARCA4 NBN TUBB2B TUBB2A ENSG00000228170 PSMG4 TUBB2BP1 LOC105374889
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBB2B on UCSC Golden Path with GeneCards custom track

Promoters for TUBB2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001492547 229 1400 PKNOX1 ZNF493 ARID4B SIN3A FEZF1 GLI4 ZNF2 ZNF48 YY1 SLC30A9

Genomic Location for TUBB2B Gene

Chromosome:
6
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

Genes around TUBB2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TUBB2B 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 Lys 58
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB2B Gene

Domains & Families for TUBB2B Gene

Gene Families for TUBB2B Gene

Suggested Antigen Peptide Sequences for TUBB2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVA1

UniProtKB/Swiss-Prot:

TBB2B_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
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

Human Phenotype Ontology for TUBB2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Cell Line Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 TUBB2B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
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:0005856 cytoskeleton IEA --
GO:0005874 microtubule IDA 21525035
genes like me logo Genes that share ontologies with TUBB2B: view

Pathways & Interactions 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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBB2B: view

No data available for SIGNOR curated interactions for TUBB2B Gene

Drugs & Compounds for TUBB2B Gene

(6) Drugs for TUBB2B Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 111
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1918
2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
CYT997 Investigational Pharma Target 0

(2) Additional Compounds for TUBB2B Gene - From: Tocris

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

(5) Tocris Compounds for TUBB2B 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 TUBB2B: view

Transcripts for TUBB2B Gene

mRNA/cDNA for TUBB2B Gene

Unigene Clusters for TUBB2B Gene

Tubulin, beta 2B class IIb:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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) (x6.0), Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Substantia nigra (x4.9), Brain - Caudate (basal ganglia) (x4.9), Brain - Amygdala (x4.4), Brain - Putamen (basal ganglia) (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for TUBB2B Gene

This gene is overexpressed in Fetal Brain (36.1) and Spinal cord (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBB2B Gene



NURSA nuclear receptor signaling pathways regulating expression of TUBB2B Gene:

TUBB2B

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 expression patterns with TUBB2B: view

Primer Products

No data available for Protein tissue co-expression partners for TUBB2B Gene

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 34 35
  • 99.78 (n)
cow
(Bos Taurus)
Mammalia TUBB2B 34 35
  • 94.76 (n)
dog
(Canis familiaris)
Mammalia TUBB2B 34 35
  • 94.68 (n)
rat
(Rattus norvegicus)
Mammalia Tubb2b 34
  • 91.69 (n)
mouse
(Mus musculus)
Mammalia Tubb2b 34 16 35
  • 91.54 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 99 (a)
ManyToMany
TUBB2B 34 35
  • 89.21 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 100 (a)
ManyToMany
-- 35
  • 98 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb2b 34
  • 82.25 (n)
MGC75628 34
zebrafish
(Danio rerio)
Actinopterygii TUBB2A 35
  • 95 (a)
OneToMany
zgc:123194 34
  • 84.57 (n)
tubb2 34
fruit fly
(Drosophila melanogaster)
Insecta betaTub85D 34 35
  • 82.95 (n)
worm
(Caenorhabditis elegans)
Secernentea tbb-4 35
  • 93 (a)
ManyToMany
mec-7 34 35
  • 75.66 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 35
  • 72 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB2 34
  • 73.72 (n)
rice
(Oryza sativa)
Liliopsida Os03g0661300 34
  • 79.38 (n)
Species where no ortholog for TUBB2B was found in the sources mined by GeneCards:
  • 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

Variants for TUBB2B Gene

Sequence variations from dbSNP and Humsavar for TUBB2B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs137853194 Pathogenic, Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] 3,225,575(-) TGCCC(C/T)CACCC reference, missense
rs137853195 Pathogenic, Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] 3,225,406(-) CCACC(C/T)GGTGT reference, missense
rs137853196 Pathogenic, Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] 3,225,296(-) TGCAC(C/T)TCTTC reference, missense
VAR_063391 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]
VAR_063394 Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031]

Structural Variations from Database of Genomic Variants (DGV) for TUBB2B Gene

Variant ID Type Subtype PubMed ID
nsv965676 CNV duplication 23825009

Variation tolerance for TUBB2B Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB2B Gene

Human Gene Mutation Database (HGMD)
TUBB2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB2B Gene

Disorders for TUBB2B Gene

MalaCards: The human disease database

(9) MalaCards diseases for TUBB2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria, symmetric or asymmetric
  • bilateral frontal polymicrogyria
tukel syndrome
  • congenital fibrosis of the extraocular muscles
tubulinopathies
  • tubulin-related cortical dysgenesis
polymicrogyria
  • pmg
microlissencephaly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBB2B_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [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.

Relevant External Links for TUBB2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB2B
genes like me logo Genes that share disorders with TUBB2B: view

No data available for Genatlas for TUBB2B Gene

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 64
  2. 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 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3 64
  5. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3 64

Products for TUBB2B Gene

Sources for TUBB2B Gene

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