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Aliases for TUBB4B Gene

Aliases for TUBB4B Gene

  • Tubulin Beta 4B Class IVb 2 3 5
  • Tubulin Beta-2C Chain 3 4
  • Tubulin Beta-2 Chain 3 4
  • Tubulin, Beta 2C 2 3
  • TUBB2C 3 4
  • Class IVb Beta-Tubulin 2
  • Class IVb Beta Tubulin 3
  • Tubulin Beta-4B Chain 3
  • Tubulin, Beta, 2 3
  • BETA2 3
  • TUBB2 3

External Ids for TUBB4B Gene

Previous HGNC Symbols for TUBB4B Gene

  • TUBB2C

Previous GeneCards Identifiers for TUBB4B Gene

  • GC09P140136

Summaries for TUBB4B Gene

GeneCards Summary for TUBB4B Gene

TUBB4B (Tubulin Beta 4B Class IVb) is a Protein Coding gene. Diseases associated with TUBB4B include Chondroid Chordoma. Among its related pathways are Development Slit-Robo signaling and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include GTP binding and unfolded protein binding. An important paralog of this gene is TUBB4A.

UniProtKB/Swiss-Prot for TUBB4B 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.

Gene Wiki entry for TUBB4B Gene

Additional gene information for TUBB4B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB4B Gene

Genomics for TUBB4B Gene

GeneHancer (GH) Regulatory Elements for TUBB4B Gene

Promoters and enhancers for TUBB4B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -2.9 -2907 9.9 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 SP3 TUBB4B EHMT1 SDCCAG3 ANAPC2 NDOR1 DPH7 INPP5E LOC651337 MAN1B1 SNHG7
GH09I137265 Enhancer 0.5 dbSUPER 13.4 +25.4 25407 1.9 KLF1 NFIC ZNF189 NFIB ZIC2 NELFB TUBB4B SLC34A3 NOXA1 EXD3 TOR4A
GH09I137243 Enhancer 1 ENCODE dbSUPER 0.8 +3.1 3055 1.6 ZNF473 MZF1 ZNF335 POLR2B GLIS2 PAF1 SMAD5 ZBTB11 ZNF662 ZNF398 INPP5E ANAPC2 DPH7 SNAPC4 SNHG7 FAM166A EXD3 ZMYND19 SDCCAG3 ARRDC1-AS1
GH09I137247 Promoter 0.7 EPDnew 0.4 +6.6 6557 0.1 GLIS2 ZBTB6 FAM166A STPG3 TUBB4B
GH09I137248 Enhancer 0.2 FANTOM5 0.4 +7.5 7516 0.2 LCNL1 ABCA2 SLC34A3 FAM166A STPG3 TUBB4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TUBB4B on UCSC Golden Path with GeneCards custom track

Genomic Locations for TUBB4B Gene

Genomic Locations for TUBB4B Gene
chr9:137,241,213-137,243,707
(GRCh38/hg38)
Size:
2,495 bases
Orientation:
Plus strand
chr9:140,135,665-140,138,159
(GRCh37/hg19)

Genomic View for TUBB4B Gene

Genes around TUBB4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB4B Gene

Proteins for TUBB4B Gene

  • Protein details for TUBB4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68371-TBB4B_HUMAN
    Recommended name:
    Tubulin beta-4B chain
    Protein Accession:
    P68371
    Secondary Accessions:
    • A2BFA2
    • P05217

    Protein attributes for TUBB4B Gene

    Size:
    445 amino acids
    Molecular mass:
    49831 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 TUBB4B Gene

Post-translational modifications for TUBB4B 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).

Other Protein References for TUBB4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB4B Gene

Domains & Families for TUBB4B Gene

Gene Families for TUBB4B Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBB4B Gene

Graphical View of Domain Structure for InterPro Entry

P68371

UniProtKB/Swiss-Prot:

TBB4B_HUMAN :
  • The highly acidic C-terminal region may bind cations such as calcium.
  • Belongs to the tubulin family.
Domain:
  • The highly acidic C-terminal region may bind cations such as calcium.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB4B: view

Function for TUBB4B Gene

Molecular function for TUBB4B 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.

Gene Ontology (GO) - Molecular Function for TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003725 double-stranded RNA binding IDA 21266579
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 TUBB4B: view
genes like me logo Genes that share phenotypes with TUBB4B: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB4B Gene

Localization for TUBB4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB4B 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 TUBB4B gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
lysosome 4
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA,IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
genes like me logo Genes that share ontologies with TUBB4B: view

Pathways & Interactions for TUBB4B Gene

genes like me logo Genes that share pathways with TUBB4B: view

SIGNOR curated interactions for TUBB4B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0006928 movement of cell or subcellular component TAS 16130169
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with TUBB4B: view

Drugs & Compounds for TUBB4B Gene

(12) Drugs for TUBB4B Gene - From: DrugBank, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mebendazole Approved, Vet_approved Pharma Target, inhibitor, binder 31
Albendazole Approved, Vet_approved Pharma Target, inhibitor 92
calcium Approved Nutra 0
Epothilone D Experimental, Investigational Pharma Target 0
Patupilone Experimental, Investigational Pharma Target 0

(2) Additional Compounds for TUBB4B Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TUBB4B 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 TUBB4B: view

Transcripts for TUBB4B Gene

mRNA/cDNA for TUBB4B Gene

Unigene Clusters for TUBB4B Gene

Tubulin, beta 4B class IVb:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB4B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - - -
SP5:
SP6: - - - -
SP7: - - - - - -
SP8:

Relevant External Links for TUBB4B Gene

GeneLoc Exon Structure for
TUBB4B
ECgene alternative splicing isoforms for
TUBB4B

Expression for TUBB4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBB4B Gene

mRNA differential expression in normal tissues according to GTEx for TUBB4B Gene

This gene is overexpressed in Testis (x4.6).

Protein differential expression in normal tissues from HIPED for TUBB4B Gene

This gene is overexpressed in Bone (9.3) and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBB4B Gene



Protein tissue co-expression partners for TUBB4B Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBB4B Gene:

TUBB4B

SOURCE GeneReport for Unigene cluster for TUBB4B Gene:

Hs.433615

mRNA Expression by UniProt/SwissProt for TUBB4B Gene:

P68371-TBB4B_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for TUBB4B Gene

  • Lung(4.4)
  • Muscle(4.4)
  • Skin(4.4)
  • Nervous system(4.4)
  • Bone marrow(2.2)
  • Heart(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with TUBB4B: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB4B Gene

Orthologs for TUBB4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB4B Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia TUBB4B 34
  • 100 (a)
OneToOne
LOC102153202 33
  • 92.43 (n)
oppossum
(Monodelphis domestica)
Mammalia TUBB4B 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB2C 33 34
  • 99.7 (n)
mouse
(Mus musculus)
Mammalia Tubb4b-ps1 34
  • 98 (a)
OneToMany
Tubb4b 33 16 34
  • 90.11 (n)
cow
(Bos Taurus)
Mammalia TUBB4B 33 34
  • 91.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Tubb4b 33
  • 90.71 (n)
chicken
(Gallus gallus)
Aves TUBB2C 33 34
  • 86.83 (n)
lizard
(Anolis carolinensis)
Reptilia TUBB4B 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb4b 33
  • 86.82 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:55461 34
  • 99 (a)
ManyToMany
zgc:123194 34
  • 98 (a)
ManyToMany
tubb4b 33
  • 83.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta betaTub56D 33 34
  • 84.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010929 33
  • 81.58 (n)
worm
(Caenorhabditis elegans)
Secernentea tbb-4 33
  • 74.55 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR225C 33
  • 70.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 33
  • 66.59 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05269g 33
  • 62.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB1 33
  • 71.66 (n)
soybean
(Glycine max)
eudicotyledons Gma.5502 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1232 33
rice
(Oryza sativa)
Liliopsida Os03g0780600 33
  • 76.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7878 34
  • 98 (a)
ManyToMany
CSA.4227 34
  • 97 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU04054 33
  • 76.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nda3 33
  • 65.18 (n)
Species where no ortholog for TUBB4B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBB4B Gene

ENSEMBL:
Gene Tree for TUBB4B (if available)
TreeFam:
Gene Tree for TUBB4B (if available)

Paralogs for TUBB4B Gene

Paralogs for TUBB4B Gene

Pseudogenes.org Pseudogenes for TUBB4B Gene

genes like me logo Genes that share paralogs with TUBB4B: view

Variants for TUBB4B Gene

Sequence variations from dbSNP and Humsavar for TUBB4B Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000115299 -- 137,239,658(+) A/G upstream_transcript_variant
rs1000179624 -- 137,240,683(+) G/A upstream_transcript_variant
rs1000442972 -- 137,239,433(+) G/A upstream_transcript_variant
rs1001153927 -- 137,243,959(+) G/C downstream_transcript_variant
rs1002038108 -- 137,241,137(+) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for TUBB4B Gene

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13011n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv951207 CNV deletion 24416366

Variation tolerance for TUBB4B Gene

Residual Variation Intolerance Score: 4.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB4B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB4B Gene

Disorders for TUBB4B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUBB4B Gene - From: DISEASES

Disorder Aliases PubMed IDs
chondroid chordoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TUBB4B

genes like me logo Genes that share disorders with TUBB4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBB4B Gene

Publications for TUBB4B Gene

  1. Three expressed sequences within the human beta-tubulin multigene family each define a distinct isotype. (PMID: 3999141) Lewis SA … Cowan NJ (Journal of molecular biology 1985) 2 3 4 58
  2. Proteomic comparison of nasopharyngeal cancer cell lines C666-1 and NP69 identifies down-regulation of annexin II and beta2-tubulin for nasopharyngeal carcinoma. (PMID: 18384219) Chan CM … Chan AT (Archives of pathology & laboratory medicine 2008) 3 22 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. (PMID: 29198720) Luscan R … Perrault I (American journal of human genetics 2017) 3 58

Products for TUBB4B Gene

Sources for TUBB4B Gene

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