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Aliases for TUBB6 Gene

Aliases for TUBB6 Gene

  • Tubulin Beta 6 Class V 2 3 5
  • Tubulin, Beta 6 Class V 2 3
  • Tubulin Beta MGC4083 2 3
  • Class V Beta-Tubulin 2 3
  • Tubulin Beta Class V 3 4
  • Tubulin, Beta 6 2
  • HsT1601 3
  • TUBB-5 3

External Ids for TUBB6 Gene

Summaries for TUBB6 Gene

GeneCards Summary for TUBB6 Gene

TUBB6 (Tubulin Beta 6 Class V) is a Protein Coding gene. Diseases associated with TUBB6 include Anonychia Congenita. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Regulation of CFTR activity (norm and CF). 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 TUBB6 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 TUBB6 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 Entrez Gene Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB6 Gene

Genomics for TUBB6 Gene

Regulatory Elements for TUBB6 Gene

Enhancers for TUBB6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TUBB6 on UCSC Golden Path with GeneCards custom track

Promoters for TUBB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBB6 on UCSC Golden Path with GeneCards custom track

Genomic Location for TUBB6 Gene

Chromosome:
18
Start:
12,307,669 bp from pter
End:
12,344,320 bp from pter
Size:
36,652 bases
Orientation:
Plus strand

Genomic View for TUBB6 Gene

Genes around TUBB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB6 Gene

Proteins for TUBB6 Gene

  • Protein details for TUBB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUF5-TBB6_HUMAN
    Recommended name:
    Tubulin beta-6 chain
    Protein Accession:
    Q9BUF5
    Secondary Accessions:
    • B3KM76
    • Q9HA42

    Protein attributes for TUBB6 Gene

    Size:
    446 amino acids
    Molecular mass:
    49857 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 TUBB6 Gene

Proteomics data for TUBB6 Gene at MOPED

Post-translational modifications for TUBB6 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).
  • Ubiquitination at Lys 58 and Lys 362
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBB6 Gene

Domains & Families for TUBB6 Gene

Gene Families for TUBB6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BUF5

UniProtKB/Swiss-Prot:

TBB6_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 TUBB6: view

Function for TUBB6 Gene

Molecular function for TUBB6 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).
genes like me logo Genes that share phenotypes with TUBB6: view

Animal Model Products

miRNA for TUBB6 Gene

miRTarBase miRNAs that target TUBB6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB6 Gene

Localization for TUBB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB6 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB6 Gene COMPARTMENTS Subcellular localization image for TUBB6 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
nucleus 5
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for TUBB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TUBB6: view

Pathways & Interactions for TUBB6 Gene

genes like me logo Genes that share pathways with TUBB6: view

SIGNOR curated interactions for TUBB6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007017 microtubule-based process IEA --
GO:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding TAS --
genes like me logo Genes that share ontologies with TUBB6: view

Drugs & Compounds for TUBB6 Gene

(6) Drugs for TUBB6 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 105
Taxol Approved August 1997 Pharma Agonist Promotes assembly and inhibits disassembly of microtubules 0
Guanosine triphosphate Experimental Pharma 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
CYT997 Investigational Pharma Target 0

(2) Additional Compounds for TUBB6 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBB6 Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2
genes like me logo Genes that share compounds with TUBB6: view

Transcripts for TUBB6 Gene

Unigene Clusters for TUBB6 Gene

Tubulin, beta 6 class V:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: - - - - -
SP6: - - - - -
SP7: - - -

Relevant External Links for TUBB6 Gene

GeneLoc Exon Structure for
TUBB6
ECgene alternative splicing isoforms for
TUBB6

Expression for TUBB6 Gene

mRNA expression in normal human tissues for TUBB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB6 Gene

This gene is overexpressed in Bone (36.4), Bone marrow stromal cell (8.0), and Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBB6 Gene



SOURCE GeneReport for Unigene cluster for TUBB6 Gene Hs.193491

mRNA Expression by UniProt/SwissProt for TUBB6 Gene

Q9BUF5-TBB6_HUMAN
Tissue specificity: Ubiquitous. Maximal expression in breast and lung, where it represents around 10% of all beta-tubulins. Largely decreased expression in most cancerous tissues.
genes like me logo Genes that share expression patterns with TUBB6: view

Protein tissue co-expression partners for TUBB6 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for TUBB6 Gene

Orthologs for TUBB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUBB6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBB6 35
  • 91.63 (n)
  • 98.14 (a)
TUBB6 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB6 35
  • 93.26 (n)
  • 98.2 (a)
TUBB6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb6 35
  • 90.3 (n)
  • 97.92 (a)
Tubb6 16
Tubb6 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB6 35
  • 99.33 (n)
  • 100 (a)
TUBB6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb6 35
  • 91.38 (n)
  • 98.15 (a)
oppossum
(Monodelphis domestica)
Mammalia TUBB6 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB6 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBB6 35
  • 82.29 (n)
  • 98.38 (a)
TUBB6 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb6 35
  • 78.14 (n)
  • 97 (a)
zebrafish
(Danio rerio)
Actinopterygii tubb6 36
  • 94 (a)
OneToOne
Species with no ortholog for TUBB6:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBB6 Gene

ENSEMBL:
Gene Tree for TUBB6 (if available)
TreeFam:
Gene Tree for TUBB6 (if available)

Paralogs for TUBB6 Gene

Paralogs for TUBB6 Gene

Pseudogenes.org Pseudogenes for TUBB6 Gene

genes like me logo Genes that share paralogs with TUBB6: view

Variants for TUBB6 Gene

Sequence variations from dbSNP and Humsavar for TUBB6 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs8611 -- 12,326,131(-) TTCCG(A/G)CTATC intron-variant, utr-variant-3-prime
rs4796958 -- 12,312,760(+) TTTGG(C/G)AGGCC intron-variant
rs4796959 -- 12,312,939(+) ggttg(C/G)ggtga intron-variant
rs4796960 -- 12,318,028(+) ACTTA(C/G)AGCTA intron-variant
rs4796961 -- 12,320,192(+) ACTGC(A/G)CTCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUBB6 Gene

Variant ID Type Subtype PubMed ID
nsv909400 CNV Loss 21882294
nsv909401 CNV Gain 21882294
dgv3387n71 CNV Loss 21882294
dgv1012e1 CNV Complex 17122850

Variation tolerance for TUBB6 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.27% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TUBB6 Gene

Disorders for TUBB6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUBB6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
anonychia congenita
  • hyponychia congenita
- elite association - COSMIC cancer census association via MalaCards
Search TUBB6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TUBB6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB6
genes like me logo Genes that share disorders with TUBB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUBB6 Gene

Publications for TUBB6 Gene

  1. Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PMID: 20191564) Leandro-Garcia L.J. … Rodriguez-Antona C. (Cytoskeleton 2010) 3 4 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Ski regulates Hippo and TAZ signaling to suppress breast cancer progression. (PMID: 25670202) Rashidian J. … Luo K. (Sci Signal 2015) 3
  4. Integrative analysis of kinase networks in TRAIL-induced apoptosis provides a source of potential targets for combination therapy. (PMID: 25852190) So J. … Colwill K. (Sci Signal 2015) 3
  5. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3

Products for TUBB6 Gene

Sources for TUBB6 Gene

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