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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TUBB6 Gene

protein-coding   GIFtS: 59
GCID: GC18P012299

Tubulin, Beta 6 Class V

(Previous names: tubulin, beta 6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TUBB6 Gene: 
TUBB6 (tubulin, beta 6 class V) is a protein-coding gene. Diseases associated with TUBB6 include anonychia congenita, and nail disease, and among its related super-pathways are Development Slit-Robo signaling and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include structural molecule activity and GTP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TUBB6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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 (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BUF5

  • TUBB6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBB6 Protein Expression
    REFSEQ proteins: NP_115914.1  
    ENSEMBL proteins: 
     ENSP00000465891   ENSP00000318697   ENSP00000468777   ENSP00000465040   ENSP00000468179  
     ENSP00000468820   ENSP00000467348   ENSP00000467969   ENSP00000465386   ENSP00000466849  
     ENSP00000468571   ENSP00000465448  
    Reactome Protein details: Q9BUF5
    Human Recombinant Protein Products for TUBB6: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    TUBB6 for ontologies           About GeneDecksing



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

    5/8 InterPro protein domains (see all 8):
     IPR002453 Beta_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR008280 Tub_FtsZ_C

    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


    TUBB6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    TUBB6 for ontologies           About GeneDecksing


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

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TUBB6 About   (see all 26)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94
    5Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane0.93
    Post-chaperonin tubulin folding pathway0.67
    Transport of connexons to the plasma membrane0.93
    Recruitment of NuMA to mitotic centrosomes0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for TUBB6 (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments


    5/10 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

    5/38        Reactome Pathways for TUBB6 (see all 38)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


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


    TUBB6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBB6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/52 Interacting proteins for TUBB6 (Q9BUF52, 3 ENSP000003186974) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    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): 5/6 biological process terms (GO ID links to tree view) (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--

    TUBB6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about TUBB6 / TBB6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TUBB6 gene: 
    NM_032525.1  

    Unigene Clusters for TUBB6:

    Tubulin, beta 6 class V
    Hs.193491  [show with all ESTs], Hs.744066  [show with all ESTs]
    Unigene Representative Sequences: AK298196, AK092677
    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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    Additional mRNA sequence: 

    AK001295.1 AK022340.1 AK092677.1 AK098440.1 AK311364.1 BC002654.1 BC111374.1 

    24/27 DOTS entries (see all 27):

    DT.100769752  DT.455606  DT.121082704  DT.91768617  DT.100059430  DT.100058891  DT.100653523  DT.100820138 
    DT.121082685  DT.91810619  DT.100653516  DT.121082745  DT.91768615  DT.95195583  DT.121082751  DT.70100087 
    DT.121082789  DT.100653525  DT.40123946  DT.91768621  DT.91934348  DT.100653519  DT.121082788  DT.91963734 

    24/464 AceView cDNA sequences (see all 464):

    BM915911 AW135528 AK092677 BU149943 BM556773 H71157 AK001295 BM543137 
    BU153430 BG775894 CB158275 BX100686 CR593961 BU527222 BE384071 BM916277 
    AA815339 AI580768 BQ430542 CB105747 AW300206 BX458869 CB149027 CA417792 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TUBB6 expression in normal human tissues (normalized intensities)      TUBB6 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             ganglion/cranial/facial VII   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             autonomic/sympathetic/ganglion   
     
     Eye (Sensory Organs)
             Retina
     
     Lung (Respiratory System)
             Basal Cells Respiratory Bronchioles
     
     Ovary (Reproductive System)
             Secondary follicles

    See TUBB6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBB6

    SOURCE GeneReport for Unigene clusters: Hs.193491 Hs.744066

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TUBB6: 
              Gap Junctions in human mouse rat
              Cardiotoxicity in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TUBB6 gene from 5/12 species (see all 12)    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 89.92(n)1
    97.74(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 82.32(n)
    97.98(a)
      421037  NM_001031012.1  NP_001026183.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tubb66
    --
    --
    94(a)
    80(a)
    1 ↔ 1
    possible ortholog
    24(3130620-3137133)
    2(1691997-1695667)
    fruit fly
    (Drosophila melanogaster)
    Insecta betaTub85D6
    betaTub60D6
    (see all 4)
    beta-Tubulin at 60D
    (see all 4)
    89(a)
    86(a)
    (see all 4)
    1 ↔ many
    possible ortholog
    (see all 4)
    3R(5234105-5236004)
    2R(20193405-20200626)
    worm
    (Caenorhabditis elegans)
    Secernentea tbb-46
    mec-76
    (see all 5)
    Tubulin beta-1 chain
    (see all 5)
    89(a)
    89(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    X(9434452-9436893)
    X(7774856-7776682)


    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)
    About This Section
    Paralogs for TUBB6 gene
    LOC2603342  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  TUBE12  
    TUBB2A2  ENSG000002589472  TUBB12  
    18/31 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

    TUBB6 for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/491 SNPs in TUBB6 are shown (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

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

    3 diseases for TUBB6:    About MalaCards
    anonychia congenita    nail disease    colorectal cancer

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

    TUBB6 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for TUBB6 gene, integrated from 9 sources (see all 45):
    (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 h uman beta-tubulin isotypes. (PubMed id 20191564)1, 2 Leandro-GarcA-a L.J....RodrA-guez-Antona C. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (2002)
    5. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....Yanez-Mo M. (2013)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (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. (2013)
    8. Proteomic analysis of the NOS2 interactome in human ai rway epithelial cells. (PubMed id 23438482)1 Foster M.W....Marshall H.E. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that promotes ubiquitin-dependent responses to replication blocks. (PubMed id 23042605)1 Mosbech A.... Mailand N. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84617 HGNC: 20776 AceView: MGC4083 Ensembl:ENSG00000176014 euGenes: HUgn84617
    ECgene: TUBB6 Kegg: 84617 H-InvDB: TUBB6

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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