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TUBB6 Gene

protein-coding   GIFtS: 59
GCID: GC18P012299

Tubulin, Beta 6 Class V

(Previous names: tubulin, beta 6)
  See TUBB6-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tubulin, Beta 6 Class V1 2     Tubulin, Beta 61
Class V Beta-Tubulin1 2     HsT16012
Tubulin Beta MGC40831 2     TUBB-52
Tubulin Beta Class V2 3     Tubulin Beta-6 Chain2

External Ids:    HGNC: 207761   Entrez Gene: 846172   Ensembl: ENSG000001760147   OMIM: 6151035   UniProtKB: Q9BUF53   

Export aliases for TUBB6 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TUBB6 Gene:
TUBB6 (tubulin, beta 6 class V) is a protein-coding gene. Diseases associated with TUBB6 include nail disease. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is LOC260334.

UniProtKB/Swiss-Prot: TBB6_HUMAN, Q9BUF5
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)

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 (+). 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.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010859.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBB6 gene promoter:
         Egr-3   Spz1   Elk-1   Tal-1beta   Evi-1   Ik-2   FOXJ2 (long isoform)   FOXJ2   ITF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBB6 promoter sequence
   Search Chromatin IP Primers for TUBB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUBB6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18p11.21   Ensembl cytogenetic band:  18p11.21   HGNC cytogenetic band: 18p11.21

TUBB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P012299:  view genomic region     (about GC identifiers)

Start:
12,307,668 bp from pter      End:
12,344,319 bp from pter
Size:
36,652 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TBB6_HUMAN, Q9BUF5 (See protein sequence)
Recommended Name: Tubulin beta-6 chain  
Size: 446 amino acids; 49857 Da
Subunit: 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
Secondary accessions: B3KM76 Q9HA42

Explore the universe of human proteins at neXtProt for TUBB6: NX_Q9BUF5

Explore proteomics data for TUBB6 at MOPED

Post-translational modifications: 

  • 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)1
  • Ubiquitination2 at Lys58, Lys252, Lys362
  • Modification sites at PhosphoSitePlus

  • See TUBB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115914.1  
    ENSEMBL proteins: 
     ENSP00000465891   ENSP00000318697   ENSP00000468777   ENSP00000465040   ENSP00000468179  
     ENSP00000468820   ENSP00000467348   ENSP00000467969   ENSP00000465386   ENSP00000466849  
     ENSP00000468571   ENSP00000465448  
    Reactome Protein details: Q9BUF5

    TUBB6 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for TUBB6 (8 products) 

     
    antibodies-online peptides for TUBB6

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    antibodies-online antibodies for TUBB6 (14 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TUB: Tubulins

    Selected InterPro protein domains (see all 8):
     IPR002453 Beta_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR018316 Tubulin/FtsZ_2-layer-sand-dom

    Graphical View of Domain Structure for InterPro Entry Q9BUF5

    ProtoNet protein and cluster: Q9BUF5

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB6_HUMAN, Q9BUF5
    Domain: The highly acidic C-terminal region may bind cations such as calcium
    Similarity: Belongs to the tubulin family


    Find genes that share domains with TUBB6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBB6_HUMAN, Q9BUF5
    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with TUBB6           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TUBB6:
     Increased cell number in G2M,  

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TUBB6

    miRNA
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    miRTarBase miRNAs that target TUBB6:
    hsa-mir-124-3p (MIRT004884), hsa-mir-92b-3p (MIRT040720)

    Block miRNA regulation of human, mouse, rat TUBB6 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TUBB6:
    hsa-miR-217
    SwitchGear 3'UTR luciferase reporter plasmidTUBB6 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBB6_HUMAN, Q9BUF5: Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    plasma membrane4
    nucleus2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IDA--
    GO:0005886plasma membrane ----
    GO:0015630microtubule cytoskeleton ----
    GO:0043234protein complex ----

    Find genes that share ontologies with TUBB6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TUBB6 About   (see all 13)  
    See pathways by source

    SuperPathContained pathways About
    1Development Slit Robo signaling
    Development Slit Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    Cytoskeleton remodeling Slit Robo signaling0.92
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    Pathogenic Escherichia coli infection0.43
    2Parkin-Ubiquitin Proteasomal System pathway
    Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway0.89
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    4Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91
    5Prefoldin mediated transfer of substrate to CCT/TriC
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.76
    Prefoldin mediated transfer of substrate to CCT/TriC0.72
    Formation of tubulin folding intermediates by CCT/TriC0.76


    Find genes that share SuperPaths with TUBB6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected GeneGo (Thomson Reuters) Pathways for TUBB6 (see all 10)
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Cell cycle Spindle assembly and chromosome separation
    Regulation of CFTR activity (norm and CF)
    Neurophysiological process Receptor-mediated axon growth repulsion
    Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for TUBB6
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection

    Selected Reactome Pathways for TUBB6 (see all 13)
        Resolution of Sister Chromatid Cohesion
    Prefoldin mediated transfer of substrate to CCT/TriC
    Mitotic Prometaphase
    Translocation of GLUT4 to the plasma membrane
    Recruitment of NuMA to mitotic centrosomes


    3 Kegg Pathways  (Kegg details for TUBB6):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TUBB6: 
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TUBB6 (Q9BUF52, 3 ENSP000003186974) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K1Q132332, 3MINT-48321 I2D: score=2 
    MAP3K3Q997592, 3MINT-48451 I2D: score=2 
    NFKB2Q006532, 3MINT-48737 I2D: score=2 
    TNFRSF1AP194382, 3MINT-49335 I2D: score=2 
    TRAF6Q9Y4K32, 3MINT-49593 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process IEA--
    GO:0044267cellular protein metabolic process TAS--
    GO:0051084'de novo' posttranslational protein folding TAS--

    Find genes that share ontologies with TUBB6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TUBB6 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Vinorelbine ditartrateSelective mitotic microtubule antagonist[125317-39-7]
    DocetaxelMicrotubule stabilizer[114977-28-5]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    ColchicineInhibitor of tubulin[64-86-8]
    Epothilone BMicrotubule stabilization agent; promotes tubulin polymerization[152044-54-7]

    2 HMDB Compounds for TUBB6    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TUBB6 gene: 
    NM_032525.1  

    Unigene Cluster for TUBB6:

    Tubulin, beta 6 class V
    Hs.193491  [show with all ESTs]
    Unigene Representative Sequence: AK298196
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590693 ENST00000317702(uc010dld.3 uc002kqw.3 uc002kqy.3)
    ENST00000590103 ENST00000591909 ENST00000590388 ENST00000586653 ENST00000586810
    ENST00000417736(uc002kqv.3) ENST00000587204 ENST00000592683 ENST00000590967
    ENST00000591208 ENST00000591463 ENST00000586691
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate TUBB6:
    hsa-miR-217
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    Additional mRNA sequence: 

    AK298196.1 AK304616.1 

    9 DOTS entries:

    DT.100769752  DT.455606  DT.121082704  DT.91768617  DT.91768615  DT.100059430  DT.121082788  DT.100058891 
    DT.91768621 

    Selected AceView cDNA sequences (see all 464):

    BM553246 CA312478 AA991277 BM997073 CR593961 BQ920142 AI580768 AI354786 
    BM464478 CO397028 BM556773 AA778397 BM459896 AK092677 BU737471 BM543137 
    BU956061 AI687892 AW239093 AI692210 CA417142 BQ019608 CD365958 CR594370 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TUBB6 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for TUBB6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TUBB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TUBB6 Expression
    About this image


    TUBB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Eye (Sensory Organs)
             Retina
     
     Ovary (Reproductive System)
             Secondary follicles
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells I Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells I Spleen
    TUBB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.193491

    UniProtKB/Swiss-Prot: TBB6_HUMAN, Q9BUF5
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TUBB6: 
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat TUBB6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBB6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TUBB6 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tubb61 , 5 tubulin, beta 6 class V1, 5 90.3(n)1
    97.92(a)1
      18 (39.96 cM)5
    679511  NM_026473.21  NP_080749.21 
     673907315 
    chicken
    (Gallus gallus)
    Aves TUBB61 tubulin, beta 6 class V 82.29(n)
    98.38(a)
      421037  NM_001031012.1  NP_001026183.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tubb61 tubulin, beta 6 class V 78.14(n)
    97(a)
      493418  NM_001008055.1  NP_001008056.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tubb66
    tubulin, beta 6 class V
    94(a)
    1 ↔ 1
    24(3130620-3137133) ENSDARG00000055649


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUBB6 gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  
    TUBE12  TUBB2A2  ENSG000002589472  TUBB12  
    Selected SIMAP similar genes for TUBB6 using alignment to 14 protein entries:     TBB6_HUMAN (see all proteins) (see all similar genes):
    XTP3TPATP1    DKFZp566F223    TUBB2B    TUBB3    TUBB2C    TUBB4B
    TUBB2A    TUBB8    TUBB4Q    TUBB    TUBB1    TUBB4A
    LOC402300    TUBA1B    TUBA1A    TUBA1    TUBA4A    TUBA1C

    Find genes that share paralogs with TUBB6           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for TUBB6
    PGOHUM00000237437 PGOHUM00000243972


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TUBB6 (see all 491)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs764481241,2
    C--12306298(+) AACTGT/ACCCCA 1 -- int14Minor allele frequency- A:0.14NA WA EA 360
    rs1412382591,2
    --12306326(+) GGTTCA/CTTCTG 1 -- int10--------
    rs1882892591,2
    --12306333(+) TCTGCC/GGGGAA 1 -- int10--------
    rs1809252721,2
    C--12306371(+) TCTGAG/TGAGAG 1 -- int10--------
    rs1449519531,2
    --12306400(+) GCAGGC/GGGAAG 1 -- int10--------
    rs1853296211,2
    --12306431(+) CTCTTC/TGAGCA 1 -- int10--------
    rs1912165871,2
    --12306494(+) CGCAGA/GGCGCA 1 -- int10--------
    rs1834704791,2
    --12306501(+) CGCACA/TGCGAG 1 -- int10--------
    rs1148701711,2
    F--12306550(+) CAAATC/TCAAGT 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1869591661,2
    --12306817(+) CGGCAA/GGATGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for TUBB6 (12307668 - 12344319 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TUBB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909400CNV Loss21882294
    dgv3387n71CNV Loss21882294
    nsv909401CNV Gain21882294
    dgv1012e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBB6
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBB6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615103    OMIM disorders: --

    1 disease for TUBB6:    
    About MalaCards
    nail disease

    1 disease from the University of Copenhagen DISEASES database for TUBB6:
    Nail disease

    Find genes that share disorders with TUBB6           About GenesLikeMe


    Export disorders for TUBB6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TUBB6 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with TUBB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tumoral and tissue-specific expression of the major human beta- tubulin isotypes. (PubMed id 20191564)1, 2 Leandro-Garcia L.J....Rodriguez-Antona C. (Cytoskeleton 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    6. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    7. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    8. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    9. Proteomic analysis of the NOS2 interactome in human airway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (Nitric Oxide 2013)
    10. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84617 HGNC: 20776 AceView: MGC4083 Ensembl:ENSG00000176014 euGenes: HUgn84617
    ECgene: TUBB6 Kegg: 84617 H-InvDB: TUBB6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TUBB6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for TUBB6 gene:
    Search GeneIP for patents involving TUBB6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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