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TUBB3 Gene

protein-coding   GIFtS: 60

GC16P089987
tubulin, beta 3
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
tubulin, beta 31 2     Tubulin beta-III2 3
TUBB41 2 3 5     CFEOM3A2 5
beta-41 2     tubulin beta-3 chain2
Tubulin beta-4 chain2 3     

External Ids:    HGNC: 207721   Entrez Gene: 103812   Ensembl: ENSG000001982117   UniProtKB: Q135093   

Export aliases for TUBB3 gene to outside databases

Previous GC identifer: GC16P088514


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

Entrez Gene summary for TUBB3:
This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein
families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily
expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are
the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript
variants. A pseudogene of this gene is found on chromosome 6. (provided by RefSeq)

UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
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. TUBB3 plays a critical role in proper axon
guidance and mantainance

summary for TUBB3:
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.

Gene Wiki entry for TUBB3

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TUBB3 gene promoter:
         NF-kappaB1   NF-kappaB   JunD   JunB   c-Jun   Fra-1   c-Fos   AP-1   MZF-1   Bach1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for TUBB3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for TUBB3 


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

Entrez Gene cytogenetic band: 16q24.3   Ensembl cytogenetic band:  16q24.3   HGNC cytogenetic band: 16q24.3

TUBB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB3 gene location

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089987:  view genomic region     (about GC identifiers)

Start:
89,985,667 bp from pter
End:
90,002,505 bp from pter
Size:
16,839 bases
Orientation:
plus strand

1 alternative location:
Chr16+ 75,682,854-75,695,522     
RefSeq DNA sequence:
NC_000016.9  NT_010542.15  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509 (See protein sequence)
Recommended Name: Tubulin beta-3 chain  
Size: 450 amino acids; 50433 Da
Subunit: Dimer of alpha and beta chains
Secondary accessions: Q9BTZ0 Q9BW10

Explore the universe of human proteins at neXtProt for TUBB3: NX_Q13509 

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
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001184110.1  NP_006077.2  


    ENSEMBL proteins: 
    ENSP00000302777 ENSP00000320295 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich AQUA Peptides for TUBB3
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: TUBB3
    OriGene Protein Over-expression Lysate: TUBB3
    GenScript Custom Purified and Recombinant Proteins Services for TUBB3 
    Novus Biologicals Proteins for TUBB3
    Novus Biologicals Lysate for TUBB3
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    5/9 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 9):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622 intracellular ----
    GO:0005737 cytoplasm ----
    GO:0005874 microtubule IEA--
    GO:0005886 plasma membrane ----
    GO:0005887 integral to plasma membrane ----
    About this table

    TUBB3 for ontologies           About GeneDecksing



    Antibodies for TUBB3: 
    Millipore Mono- and Polyclonal Antibodies for the study of TUBB3
    Sigma-Aldrich Antibody Arrays and Antibodies for TUBB3
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for TUBB3  (tubulin beta-3)
    OriGene Antibodies (see all 5): TUBB3
    GenScript Superior Antibodies for TUBB3 
    Novus Biologicals Antibodies for TUBB3
    Epitomics antibodies for TUBB3

    Assays for TUBB3: 
    Millipore Kits and Assays for the Analysis of TUBB3
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TUBB3 
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TUBB3 for domains           About GeneDecksing

    5/8 InterPro domains/families (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 Q13509

    ProtoNet protein and cluster: Q13509

    1 Blocks protein family: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Domain: The highly acidic C-terminal region may bind cations such as calcium
    Similarity: Belongs to the tubulin family


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    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. TUBB3 plays a critical role in proper axon
    guidance and mantainance

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for TUBB3
    Sigma-Aldrich shRNA Panels and shRNA for TUBB3
    OriGene 29mer shRNA kits in GFP-retroviral vector: TUBB3
    OriGene shRNA RFP: TUBB3
    OriGene basic RS shRNA: TUBB3
    OriGene siRNA: TUBB3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TUBB3 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TUBB3 
    Search SABiosciences for Assays for microRNAs that regulate TUBB3

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: TUBB3
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TUBB3
    OriGene untagged cDNA clones in CMV expression vector: TUBB3
    OriGene 3'-UTR clone: TUBB3 
    Browse MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: TUBB3 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for TUBB3 

    5/11 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 11):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003924 GTPase activity IEA--
    GO:0004872 receptor activity ----
    GO:0004977 melanocortin receptor activity ----
    GO:0004980 melanocyte-stimulating hormone receptor activity ----
    About this table

    TUBB3 for ontologies           About GeneDecksing

    Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tubb3):

    lethality-prenatal/perinatalnervous systemrespiratory system

    TUBB3 for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    TUBB3 for pathways           About GeneDecksing

    5/9 Millipore Pathways for TUBB3 (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments

    3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for  TUBB3
        Germ Cell-Sertoli Cell Junction Signaling
    14-3-3-mediated Signaling
    Breast Cancer Regulation by Stathmin1

    3 Kegg Pathways  (Kegg details for TUBB3):
        hsa04145 Phagosome
    hsa04540 Gap junction
    hsa05130 Pathogenic Escherichia coli infection

        SABiosciences Pathway-Focused PCR Arrays including TUBB3: PAHS-048A PAHS-405A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TUBB3
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBB3

    5/600 Interacting proteins for TUBB3 (ENSP000003027773 Q135092) via UniProtKB, MINT, and/or STRING (see all 600)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTBP607092STRING: ENSP00000349960 MINT-7945693
    ARHGEF2Q929742STRING: ENSP00000357298 MINT-7945693
    CCT2P783712STRING: ENSP00000299300 MINT-7945693
    CCT3P493682STRING: ENSP00000357244 MINT-7945693
    CCT5P486432STRING: ENSP00000280326 MINT-7945693
    About this table

    5/22 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 22):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457 protein folding TAS--
    GO:0007017 microtubule-based process ----
    GO:0007018 microtubule-based movement IEA--
    GO:0007067 mitosis ----
    GO:0007186 G-protein coupled receptor protein signaling pathway ----
    About this table

    TUBB3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    TUBB3 for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for TUBB3 available from Tocris Bioscience
    CompoundAction CAS number
    XRP44XRas-Net pathway inhibitor[729605-21-4]
    TaxolPromotes assembly and inhibits disassembly of microtubules[33069-62-4]
    Vincristine sulfateDisrupts microtubules[2068-78-2]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    NocodazoleMicrotubule inhibitor[31430-18-9]
    About this table


    10/21 Novoseek chemical compound relationships for TUBB3 gene (see all 21)
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epothilone b 68.1 10 19074887 (4)
    paclitaxel 66.8 24 20442307 (2), 16675570 (2), 19714814 (2), 19074887 (1) (see all 17)
    bromodeoxyuridine 55.1 16 14761318 (1), 15347454 (1), 18417705 (1), 16871883 (1) (see all 12)
    vinorelbine 49.2 4 12437479 (1), 12789263 (1), 12480194 (1)
    docetaxel 46.1 4 20003833 (1), 17714470 (1), 17951407 (1), 18350296 (1)
    retinoic acid 44.1 6 15896320 (1), 17525239 (1), 19520554 (1), 19627439 (1) (see all 6)
    ibmx 39 3 18021255 (2), 19695767 (1)
    estramustine 36.6 2 9020786 (1)
    colchicine 36.2 1 18172100 (1)
    cisplatin 31.9 5 19468031 (2), 12789263 (1), 18306929 (1)
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for TUBB3
    Sigma-Aldrich shRNA Panels and shRNA for TUBB3
    OriGene 29mer shRNA kits in GFP-retroviral vector: TUBB3
    OriGene shRNA RFP: TUBB3
    OriGene basic RS shRNA: TUBB3
    OriGene siRNA: TUBB3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of TUBB3 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of TUBB3 
    Search SABiosciences for Assays for microRNAs that regulate TUBB3
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: TUBB3
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: TUBB3
    OriGene untagged cDNA clones in CMV expression vector: TUBB3
    OriGene 3'-UTR Clone: TUBB3 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript cDNA clone with any tag delivered in your preferred vector: TUBB3 
    Primers: OriGene genome-wide validated SYBR primer pairs: TUBB3
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TUBB3: PPH02607A

    REFSEQ mRNAs for TUBB3 gene (2 alternative transcripts): 

    NM_001197181.1  NM_006086.3  

    Additional cDNA sequence: 

    AF427491.1 AK058140.1 AK122757.1 AK127418.1 AK223039.1 AK292219.1 AK307201.1 AK311630.1 
    AK314616.1 BC000748.2 BC001678.2 BC003021.1 BC020171.1 BC047518.1 CR590075.1 CR590351.1 
    CR590708.1 CR590783.1 CR591503.1 CR592025.1 CR592245.1 CR592535.1 CR592610.1 CR592791.1 
    CR593269.1 CR593464.1 CR594063.1 CR594431.1 CR594464.1 CR594636.1 CR595448.1 CR595964.1 
    CR596211.1 CR596446.1 CR596505.1 CR596786.1 CR597505.1 CR598025.1 CR598043.1 CR598551.1 
    CR599272.1 CR599992.1 CR600094.1 CR600096.1 CR600381.1 CR600906.1 CR601082.1 CR601754.1 
    CR601914.1 CR601978.1 CR603177.1 CR603504.1 CR603509.1 CR603741.1 CR603943.1 CR604020.1 
    CR604086.1 CR604211.1 CR604583.1 CR604723.1 CR604865.1 CR605022.1 CR605315.1 CR605372.1 
    CR605618.1 CR605687.1 CR605928.1 CR606534.1 CR607807.1 CR607915.1 CR608519.1 CR609278.1 
    CR609285.1 CR609372.1 CR609561.1 CR609873.1 CR609931.1 CR610428.1 CR610920.1 CR610945.1 
    CR611346.1 CR611692.1 CR612113.1 CR612703.1 CR613212.1 CR613333.1 CR613956.1 CR614150.1 
    CR614385.1 CR614638.1 CR614854.1 CR615484.1 CR615487.1 CR615754.1 CR615850.1 CR615967.1 
    CR616091.1 CR616697.1 CR617597.1 CR617704.1 CR618148.1 CR618463.1 CR618719.1 CR619366.1 
    CR619439.1 CR620404.1 CR620633.1 CR621602.1 CR622595.1 CR622759.1 CR622839.1 CR623379.1 
    CR623384.1 CR623445.1 CR623719.1 CR624149.1 CR624252.1 CR624879.1 CR625137.1 CR625315.1 
    CR625316.1 CR625914.1 CR626587.1 S62643.1 U47634.1 

    24/66 DOTS entries (see all 66):

    DT.95132620  DT.100892963  DT.91766806  DT.97848619  DT.451980  DT.100893108  DT.91766803  DT.100731314 
    DT.120720861  DT.120720553  DT.100893123  DT.100893024  DT.100893268  DT.100893146  DT.87014805  DT.101986505 
    DT.120721044  DT.120720482  DT.91956668  DT.91667661  DT.100048093  DT.100893185  DT.120720884  DT.100840258 

    24/933 AceView cDNA sequences (see all 933):

    CR620633 CR605618 BU168611 BE259310 CA413850 BE745987 BX418946 AL532738 
    CR613333 CR612113 BQ676579 CR613956 CR594464 BX461799 CR608519 CR609278 
    BQ924056 BU529036 BX441201 CR604020 CR609873 BC020171 BQ952360 CB152242 

    highest scoring ESTs for TUBB3:

    AW003626 U47634 AA081706 AA350300 AA634081 AA729257 AA729994 AA992317 AI241738 AI280002 

    Unigene Cluster for TUBB3:

    Tubulin, beta 3
    Hs.511743  [show with all ESTs]
    Unigene Representative Sequence: AK122757


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TUBB3 (see all 11)

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e
    SP1:              -     -     -     -     -     -     -     -           -                 -     -     -                                 
    SP2:                    -     -     -     -     -     -     -           -                 -     -     -                                 
    SP3:                                -     -     -     -     -           -                 -     -     -                                 
    SP4:                                      -     -     -     -           -                 -     -     -                                 
    SP5:                                                  -     -           -                 -     -     -                                 

    About this scheme

    ECgene alternative splicing isoforms for TUBB3
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304984(uc002fpe.3 uc002fpf.2 uc010ciz.1 uc002fpj.1 uc010cjb.1 uc002fpk.1)
    ENST00000315491(uc010cja.1 uc002fpg.1 uc002fph.1 uc002fpi.1)


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    TUBB3 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching TUBB3 gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    57034_at2, 3 U95-C 1 0.94 1.00 0.99 0.82 AW003626 1.00 0.90 0.95 1
    471_f_at2, 3 U95-A 9 0.94 0.49 0.96 1.21 U47634 1.00 0.90 0.95 1
    213476_x_at2, 3 U133-A 11 1.00 0.41 -- -- AL565749 0.80 0.75 0.78 1
    202154_x_at2, 3 U133-A 12 0.91 0.43 -- -- NM_006086 0.60 0.83 0.73 1
    213476_x_at2 U133Plus2 11 1.00 0.41 -- -- -- -- -- -- --
    202154_x_at2 U133Plus2 12 0.91 0.43 -- -- -- -- -- -- --
    About this table

    TUBB3 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    TUBB3 gene expression
    TUBB3 gene electronic northern expression
    TUBB3 gene sage expression
    About these images

    CGAP SAGE TAG: AACGACCTGG

    SOURCE GeneReport for Unigene cluster: Hs.511743

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
    Tissue specificity: Expression is primarily restricted to central and peripheral nervous system

    Primers: OriGene genome-wide validated SYBR primer pairs: TUBB3
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for TUBB3: PPH02607A
        SABiosciences Expression via Pathway-Focused PCR Arrays including TUBB3: PAHS-048A PAHS-405A 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for TUBB3 gene from 5/8 species (see all 8)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TUBB31   -- tubulin, beta 3 92.89(n)
    100(a)
    608025  XM_854956.1  XP_860049.1 
    cow
    (Bos taurus)
    TUBB31   -- tubulin, beta 3 93.41(n)
    100(a)
    768070  NM_001077127.1  NP_001070595.1 
    rat
    (Rattus norvegicus)
    Tubb31   -- tubulin, beta 3 90.57(n)
    99.11(a)
    246118  NM_139254.1  NP_640347.1 
    mouse
    (Mus musculus)
    Tubb31 , 5 8 (72.10 cM)5
    tubulin, beta 31, 5 90.74(n)1
    99.78(a)1
    221521  NM_023279.21  NP_075768.11 
     AC0238365  AF3128735  (see all 14)
    chicken
    (Gallus gallus)
    TUBB31   -- tubulin, beta 3 91.54(n)
    99.55(a)
    431043  NM_001031598.1  NP_001026769.1 
    About this table        Species with no ortholog for TUBB3

    ENSEMBL Gene Tree for TUBB3 (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for TUBB3 gene
    LOC2603342  TUBB2A2  TUBB62  TUBB12  TUBB82  TUBB2B2  

    TUBB3 for paralogs           About GeneDecksing


    Pseudogenes
    1 related pseudogene



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/181 NCBI SNPs in TUBB3 are shown (see all 181)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs122071,2
    C,F,O,A,90002360(-) GAGGAC/TGAGGC 1 -- ut316Minor allele frequency- T:0.06MN NS EA WA 654
    rs11353941,2
    --90002214(+) GTGAAG/ACTGCT 1 -- ut311Minor allele frequency- A:0.00MN 184
    rs11354251,2
    C,A,H,90002290(+) CATCTT/CGCTGC 1 -- ut314Minor allele frequency- C:0.46MN NA WA 260
    rs23028971,2
    C,F,89998957(-) AGAGGG/AGGGGT 1 -- int1 trp35Minor allele frequency- A:0.07NS EA WA 348
    rs23028981,2
    C,F,89998794(-) ATATGC/TACCTC 1 -- int111Minor allele frequency- T:0.50NS EA NA WA 1046
    rs23028991,2
    C,F,89998779(-) CCTACA/GCGTCC 1 -- int14Minor allele frequency- G:0.00NS EA 420
    rs29662521,2
    --89988915(-) CGGAGA/TCTGCG 1 -- ng510--------
    rs29662531,2
    --89988205(-) CTGCGA/TAGGAG 1 -- ng510--------
    rs29662541,2
    --89988131(-) GTCTCA/TGCAGA 1 -- ng510--------
    rs29797211,2
    --89988204(+) ACTCCA/TTCGCA 1 -- ng510--------
    About this table

    HapMap Linkage Disequilibrium images for TUBB3 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TUBB3: --

    QIAGEN SeqTarget long-range PCR primers for resequencing TUBB3 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TUBB3 for disorders           About GeneDecksing

    OMIM: 602661   disorders: 600638  

    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509

  • Defects in TUBB3 are the cause of congenital fibrosis of extraocular muscles type 3A (CFEOM3A) [MIM:600638]. A
  • congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by
    the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze,
    ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a
    non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally
    affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and
    exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and
    compensatory head positions are associated with the more severe forms of the disorder. In some cases the ocular
    phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia
    dysmorphism, facial weakness, polyneuropathy

    10/17 Novoseek disease relationships for TUBB3 gene (see all 17)

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nsclc 37.7 18 17909044 (3), 19745766 (2), 19683826 (2), 20442307 (2) (see all 8)
    ovarian cancer 32.1 15 18497984 (4), 19228748 (2), 16675570 (2), 19074887 (1) (see all 7)
    glioblastoma 30.5 8 17406983 (3), 20162618 (2), 20084020 (1)
    picks disease 30.2 1 16006664 (1)
    tumors 19.5 24 19139109 (3), 19322891 (2), 19468031 (2), 17909044 (1) (see all 16)
    neurological disorders 17.1 1 20406197 (1)
    astrocytoma 16.4 2 17406983 (2)
    cancer 16 4 18645017 (1), 19434843 (1), 16652383 (1), 19714814 (1)
    brain ischemia 10.5 1 16047371 (1)
    prostate cancer 2.6 10 19690549 (3)
    About this table

    Human Gene Mutation Database (HGMD): TUBB3

    Export disorders and mutations for TUBB3 gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/273 PubMed articles for TUBB3 gene, integrated from 7 sources (see all 273):
    (articles sorted by number of sources associating them with TUBB3)
    1. Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents. (PubMed id 9473684)1, 2, 3, 7 Ranganathan S.... Hudes G.R. (1998)
    2. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PubMed id 20074521)1, 2 Tischfield M.A.... Engle E.C. (2010)
    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. Identification of new human receptor and transporter genes by high throughput cDNA (EST) sequencing. (PubMed id 8098743)1, 3 Venter J.C. (1993)
    5. Epigenetic modification is involved in aberrant expression of class III beta-tubulin, TUBB3, in ovarian cancer cells. (PubMed id 18497984)1, 7 Izutsu N....Masuda T. (2008)
    6. Class III beta-tubulin, a marker of resistance to paclitaxel, is overexpressed in pancreatic ductal adenocarcinoma and intraepithelial neoplasia. (PubMed id 17714470)1, 7 Lee K.M....Ouellette M.M. (2007)
    7. Loss of class III beta-tubulin induced by histone deacetylation is associated with chemosensitivity to paclitaxel in malignant melanoma cells. (PubMed id 19122647)1, 7 Akasaka K....Masuda T. (2009)
    8. Proteomic characterization of cytoskeletal and mitochondrial class III beta-tubulin. (PubMed id 18645017)1, 7 Cicchillitti L....Ferlini C. (2008)
    9. Hypoxia induces class III beta-tubulin gene expression by HIF-1alpha binding to its 3' flanking region. (PubMed id 18178340)1, 7 Raspaglio G....Ferlini C. (2008)
    10. Expression of class III beta-tubulin correlates with unfavorable survival outcome in patients with resected non-small cell lung canc er. (PubMed id 20087230)1, 7 Koh Y....Bang Y.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10381 HGNC: 20772 AceView: MC1RandTUBB4 Ensembl:ENSG00000198211 euGenes: HUgn10381
    ECgene: TUBB3 Kegg: 10381 H-InvDB: TUBB3

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for TUBB3 gene:
    Search GeneIP for patents involving TUBB3

    GeneCards and IP:
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