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Aliases for TUBB6 Gene

Aliases for TUBB6 Gene

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

External Ids for TUBB6 Gene

Previous GeneCards Identifiers for TUBB6 Gene

  • GC18P012299

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 Development Slit-Robo signaling and Cytoskeleton remodeling Neurofilaments. 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 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 (+).

Additional gene information for TUBB6 Gene

No data available for Entrez Gene Summary , CIViC 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 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
GH18H012333 1.2 ENCODE dbSUPER 38.3 +28.2 28206 3 HDAC1 PKNOX1 FOXA2 FEZF1 RARA ZNF366 MIXL1 HMG20B TSHZ1 ZNF843 TUBB6 AFG3L2 RNU7-129P PRELID3A ENSG00000267199
GH18H012306 1.7 FANTOM5 ENCODE dbSUPER 26.9 +1.0 988 5 ATF1 SIN3A DMAP1 ZBTB7B ZNF766 GLIS2 ZNF143 KLF7 ATF7 FOS TUBB6 PRELID3A CEP192 AFG3L2 RNU7-129P CHMP1B
GH18H012313 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.2 +8.3 8295 5 SCRT1 RFX1 MAFG ZIC2 NR2F2 RFX5 ZNF121 ZNF316 POLR2A SCRT2 TUBB6 AFG3L2 RNU7-129P PRELID3A IMPA2 CHMP1B
GH18H012277 1.9 VISTA Ensembl ENCODE dbSUPER 22.8 -26.8 -26799 6 RB1 ZFP64 ARID4B DMAP1 ZBTB40 ZSCAN9 RAD21 TCF12 FOS RCOR1 TUBB6 ENSG00000267199 PRELID3A ENSG00000267069 CIDEA ENSG00000280302
GH18H012327 1.1 ENCODE dbSUPER 24.4 +20.4 20368 1 ELF3 RB1 ARNT ARID4B SIN3A RAD21 ZNF143 RUNX3 SMARCA5 ZNF654 TUBB6 AFG3L2 RNU6-170P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000100959 731 2401 ATF1 SIN3A DMAP1 ZBTB7B GLIS2 ZNF143 KLF7 ATF7 FOS JUNB

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

Post-translational modifications for TUBB6 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 posLast=5858 and Lys362
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBB6 Gene

Domains & Families for TUBB6 Gene

Gene Families for TUBB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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).

Gene Ontology (GO) - Molecular Function for TUBB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
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 TUBB6: view
genes like me logo Genes that share phenotypes with TUBB6: view

Animal Model Products

CRISPR Products

miRNA for TUBB6 Gene

miRTarBase miRNAs that target TUBB6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 TUBB6 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 3
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBB6 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 IEA,IDA 21525035
GO:0015630 microtubule cytoskeleton IDA --
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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
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 116
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1993
Guanosine triphosphate Experimental Pharma 0
CYT997 Investigational Pharma Target 0
calcium Nutra 0

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

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

(5) Tocris Compounds for TUBB6 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 TUBB6: view

Transcripts for TUBB6 Gene

Unigene Clusters for TUBB6 Gene

Tubulin, beta 6 class V:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TUBB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TUBB6 Gene



Protein tissue co-expression partners for TUBB6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUBB6 Gene:

TUBB6

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.

Evidence on tissue expression from TISSUES for TUBB6 Gene

  • Nervous system(3.9)
  • Skin(3.6)
  • Lung(3.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with TUBB6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TUBB6 34 33
  • 99.33 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBB6 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB6 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB6 33 34
  • 93.26 (n)
cow
(Bos Taurus)
Mammalia TUBB6 33 34
  • 91.63 (n)
rat
(Rattus norvegicus)
Mammalia Tubb6 33
  • 91.38 (n)
mouse
(Mus musculus)
Mammalia Tubb6 33 16 34
  • 90.3 (n)
chicken
(Gallus gallus)
Aves TUBB6 33 34
  • 82.29 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb6 33
  • 78.14 (n)
zebrafish
(Danio rerio)
Actinopterygii tubb6 34
  • 94 (a)
OneToOne
Species where no ortholog for TUBB6 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)
  • 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

Variants for TUBB6 Gene

Sequence variations from dbSNP and Humsavar for TUBB6 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs113981080 Likely benign 12,329,563(+) TGGGC(A/C/G/T)TCTAG utr-variant-3-prime
rs114203162 Likely benign 12,329,456(+) GCCAG(G/T)GGCTG utr-variant-3-prime
rs117182113 Likely benign 12,329,645(+) TGGAA(A/G/T)TGAGG reference, missense, utr-variant-3-prime
rs180917336 Likely benign 12,329,239(+) TGCAA(C/T)GATCC utr-variant-3-prime
rs565352114 Likely benign 12,329,081(+) CTGGA(C/T)TCAAT intron-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2758714 CNV loss 17122850
nsv1060808 CNV gain 25217958
nsv1063125 CNV loss 25217958
nsv576496 CNV gain 21841781

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)

Relevant External Links for TUBB6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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-García LJ … Rodríguez-Antona C (Cytoskeleton (Hoboken, N.J.) 2010) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  5. The scaffold protein KSR1, a novel therapeutic target for the treatment of Merlin-deficient tumors. (PMID: 26549023) Zhou L … Hanemann CO (Oncogene 2016) 3 60

Products for TUBB6 Gene

Sources for TUBB6 Gene

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