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TUBB3 Gene

protein-coding   GIFtS: 64
GCID: GC16P089999

Tubulin, Beta 3 Class III

(Previous names: tubulin, beta 3, fibrosis of extraocular muscles, congenital,...)
(Previous symbol: FEOM3)
  See TUBB3-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)
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Aliases
Tubulin, Beta 3 Class III1 2     CDCBM12 5
TUBB42 3 5     CFEOM3A2 5
FEOM31 2     Tubulin, Beta 31
Fibrosis Of Extraocular Muscles, Congenital, 31 2     CDCBM2
Class III Beta-Tubulin1 2     CFEOM32
Tubulin Beta-4 Chain2 3     beta-42
Tubulin Beta-III2 3     Tubulin Beta-3 Chain2

External Ids:    HGNC: 207721   Entrez Gene: 103812   Ensembl: ENSG000001982117   OMIM: 6026615   UniProtKB: Q135093   

Export aliases for TUBB3 gene to outside databases

Previous GC identifers: GC16P088514 GC16P089987 GC16P089991 GC16P089996


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TUBB3 Gene:
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, Oct
2010)

GeneCards Summary for TUBB3 Gene:
TUBB3 (tubulin, beta 3 class III) is a protein-coding gene. Diseases associated with TUBB3 include congenital fibrosis of the extraocular muscles, and tubb3-related congenital fibrosis of the extraocular muscles. 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: 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 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.

Gene Wiki entry for TUBB3 Gene


(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_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBB3 gene promoter:
         CREB   deltaCREB   NRSF form 1   MyoD   ZIC2/Zic2   NRSF form 2   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBB3 promoter sequence
   Search Chromatin IP Primers for TUBB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat 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 information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P089999:  view genomic region     (about GC identifiers)

Start:
89,985,573 bp from pter      End:
90,002,505 bp from pter
Size:
16,933 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: 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. 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: Q9BTZ0 Q9BW10

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

Explore proteomics data for TUBB3 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
  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This
    phosphorylation inhibits tubulin incorporation into microtubules1
  • Ubiquitination2 at Lys252, Lys297, Lys362, Lys379
  • Modification sites at PhosphoSitePlus

  • See TUBB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000451560  
    Reactome Protein details: Q13509

    TUBB3 Human Recombinant Protein Products:

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    Novus Biologicals TUBB3 Proteins
    Novus Biologicals TUBB3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TUBB3
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TUBB3 

     
    antibodies-online proteins for TUBB3 (18 products) 

     
    antibodies-online peptides for TUBB3

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    antibodies-online antibodies for TUBB3 (166 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 Q13509

    ProtoNet protein and cluster: Q13509

    1 Blocks protein domain: 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


    Find genes that share domains with TUBB3           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: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0004930G-protein coupled receptor activity ----
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with TUBB3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for TUBB3:
     Decreased cell number, increas  G2 arrest 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tubb3):
     cellular  mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with TUBB3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TUBB3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TUBB3:
    hsa-mir-200c-3p (MIRT000196), hsa-mir-505-3p (MIRT041009), hsa-mir-340-5p (MIRT019563), hsa-mir-16-5p (MIRT031664), hsa-mir-30a-5p (MIRT028482), hsa-mir-92a-3p (MIRT049056), hsa-mir-193b-3p (MIRT016480)

    Block miRNA regulation of human, mouse, rat TUBB3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate TUBB3:
    hsa-miR-200c hsa-miR-429 hsa-miR-3660 hsa-miR-3942-5p hsa-miR-3120-3p hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidTUBB3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TUBB3

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    GenScript: all cDNA clones in your preferred vector (see all 2): TUBB3 (NM_001197181)
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    eBioscience FlowRNA Probe Sets ( VA6-11598) for TUBB3 


    (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
    TBB3_HUMAN, Q13509: Cytoplasm, cytoskeleton

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IDA--
    GO:0005886plasma membrane ----
    GO:0015630microtubule cytoskeleton ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with TUBB3           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 TUBB3 About   (see all 25)  
    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
    4Signaling in Gap Junctions
    Gap junction0.31
    Signaling in Gap Junctions0.31
    5Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91


    Find genes that share SuperPaths with TUBB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBB3 (see all 9)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    Signaling in Gap Junctions
    Epithelial Adherens Junctions

    2 Cell Signaling Technology (CST) Pathways for TUBB3
        Neuroscience
    Cytoskeletal Signaling

    Selected GeneGo (Thomson Reuters) Pathways for TUBB3 (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

    3 BioSystems Pathways for TUBB3
        Diurnally regulated genes with circadian orthologs
    Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    Selected Reactome Pathways for TUBB3 (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 TUBB3):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TUBB3: 
              Terminal Differentiation Markers in human mouse rat
              Gap Junctions in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBB3

    Selected Interacting proteins for TUBB3 (Q135091, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 804)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=2 
    HIST1H4BP628053I2D: score=2 
    HIST1H4CP628053I2D: score=2 
    HIST1H4DP628053I2D: score=2 
    HIST1H4EP628053I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process IEA--
    GO:0007067mitosis ----
    GO:0007186G-protein coupled receptor signaling pathway ----

    Find genes that share ontologies with TUBB3           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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for TUBB3 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 TUBB3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 DrugBank Compounds for TUBB3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IxabepiloneAza-epothilone B (see all 3)219989-84-1targetinhibitor18321240 18945860 18378531
    Epothilone BEPO 906 (see all 3)152044-54-7target--17139284 17016423
    Epothilone D-- 189453-10-9target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for TUBB3 gene (see all 21)    About this table
    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)



    Find genes that share compounds with TUBB3           About GenesLikeMe



    (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 TUBB3 gene (2 alternative transcripts): 
    NM_001197181.1  NM_006086.3  

    Unigene Cluster for TUBB3:

    Tubulin, beta 3 class III
    Hs.511743  [show with all ESTs]
    Unigene Representative Sequence: AK122757
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000556922(uc002fpf.2)
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat TUBB3
      QuantiFast Probe-based Assays in human, mouse, rat TUBB3
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    eBioscience FlowRNA Probe Sets ( VA6-11598) for TUBB3 

    Additional mRNA sequence: 

    AF427491.1 AK058140.1 AK122757.1 AK127418.1 AK223039.1 AK292219.1 AK307201.1 AK314616.1 
    BC000748.2 BC001678.2 BC003021.1 BC020171.1 BC047518.1 S62643.1 U47634.1 

    Selected DOTS entries (see all 67):

    DT.95132620  DT.100892963  DT.97848619  DT.451980  DT.91766806  DT.100893108  DT.100731314  DT.91766803 
    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.100893133 

    Selected AceView cDNA sequences (see all 933):

    CR603509 BQ939707 BU517186 BX423886 BU956682 BQ721673 BX440802 BF972864 
    CR607915 AL533166 T39123 CR622759 CR619439 BC003021 BU187798 AL534982 
    BI918336 CR600906 BU857878 BX420270 BQ716316 CR621602 BQ653378 BM043186 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TUBB3 (see all 11)    About this scheme

    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:                                                  -     -           -                 -     -     -                                 


    ECgene alternative splicing isoforms for TUBB3

    (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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    TUBB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACGACCTGG
    TUBB3 Expression
    About this image


    TUBB3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Neurons
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Spinal GABA neurons
     
     Brain (Nervous System)    fully expand to see all 25 entries
             Dopaminergic Progenitor Cells Substantia Nigra pars Compacta
             Cerebellum
             Dorsal forebrain-like neurons
     
     Dopaminergic Neurons (Nervous System)    fully expand to see all 11 entries
             Dopaminergic neuron-like cells
     
     Spinal Cord (Nervous System)    fully expand to see all 8 entries
             Fetal spinal cord stem cells (NSI-566)
             Motor neuron-like cells
     
     Motor Neurons (Nervous System)    fully expand to see all 6 entries
             Motor neuron-like cells
    TUBB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBB3 Protein Expression

    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. Greatly increased
    expression in most cancerous tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TUBB3: 
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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

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    This gene was present in the common ancestor of chordates.

    Orthologs for TUBB3 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tubb31 , 5 tubulin, beta 3 class III1, 5 90.74(n)1
    99.78(a)1
      8 (72.10 cM)5
    221521  NM_023279.21  NP_075768.11 
     1234114245 
    chicken
    (Gallus gallus)
    Aves TUBB31 tubulin, beta 3 class III 91.54(n)
    99.55(a)
      431043  NM_001031598.1  NP_001026769.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC762022 hypothetical protein MGC76202 82.04(n)    BC064873.1 


    ENSEMBL Gene Tree for TUBB3 (if available)
    TreeFam Gene Tree for TUBB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUBB3 gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBE12  
    TUBB62  TUBB2A2  ENSG000002589472  TUBB12  
    Selected SIMAP similar genes for TUBB3 using alignment to 13 protein entries:     TBB3_HUMAN (see all proteins) (see all similar genes):
    DKFZp566F223    XTP3TPATP1    TUBB4B    TUBB2B    TUBB2C    TUBB2A
    TUBB6    TUBB    TUBB4Q    TUBB4A    TUBB1    TUBB8
    LOC402300    TUBA1    TUBA1A    TUBA1B    TUBA1C    TUBA8

    Find genes that share paralogs with TUBB3           About GenesLikeMe



    (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 TUBB3 (see all 455)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0627604
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627602 R H mis40--------
    VAR_0627644
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627642 D H mis40--------
    VAR_0627634
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627632 E K mis40--------
    VAR_0627614
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627612 A T mis40--------
    VAR_0627584
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627582 R Q mis40--------
    VAR_0662084
    Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)4--see VAR_0662082 A V mis40--------
    VAR_0662094
    Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)4--see VAR_0662092 M V mis40--------
    VAR_0627624
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627622 R C mis40--------
    VAR_0662064
    Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)4--see VAR_0662062 T M mis40--------
    VAR_0627594
    Congenital fibrosis of extraocular muscles 3A (CFEOM3A)4--see VAR_0627592 R C mis40--------

    HapMap Linkage Disequilibrium report for TUBB3 (89985573 - 90002505 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TUBB3 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660542CNV Deletion23128226
    nsv509640CNV Insertion20534489
    nsv907442CNV Loss21882294
    dgv3009n71CNV Loss21882294
    nsv907433CNV Loss21882294
    nsv907429CNV Loss21882294
    nsv907444CNV Loss21882294
    nsv907443CNV Loss21882294
    dgv3015n71CNV Loss21882294
    dgv3014n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TUBB3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBB3
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBB3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602661   
    OMIM disorders: 600638  614039  
    UniProtKB/Swiss-Prot: TBB3_HUMAN, Q13509
  • Congenital fibrosis of extraocular muscles 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]: A disorder of
    aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental
    retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical
    development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin
    corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for TUBB3:    
    About MalaCards
    congenital fibrosis of the extraocular muscles    tubb3-related congenital fibrosis of the extraocular muscles    cortical dysplasia, complex, with other brain malformations 1    congenital fibrosis of the extraocular muscles 3a
    cortical dysplasia, complex, with other brain malformations    ovarian carcinosarcoma    congenital fibrosis of the extraocular muscles 2


    Find genes that share disorders with TUBB3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TUBB3 gene (see all 17)    About this table

    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)


    Export disorders for TUBB3 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 TUBB3 gene, integrated from 10 sources (see all 356):
    (articles sorted by number of sources associating them with TUBB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    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, 9 Ranganathan S.... Hudes G.R. (Biochim. Biophys. Acta 1998)
    2. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PubMed id 20074521)1, 2, 3 Tischfield M.A.... Engle E.C. (Cell 2010)
    3. Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. (PubMed id 20829227)1, 2 Poirier K.... Chelly J. (Hum. Mol. Genet. 2010)
    4. 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)
    5. Identification of new human receptor and transporter genes by high throughput cDNA (EST) sequencing. (PubMed id 8098743)1, 3 Venter J.C. (J. Pharm. Pharmacol. 1993)
    6. Epigenetic modification is involved in aberrant expression of class III beta-tubulin, TUBB3, in ovarian cancer cells. (PubMed id 18497984)1, 9 Izutsu N....Masuda T. (Int. J. Oncol. 2008)
    7. Class III beta-tubulin, a marker of resistance to paclitaxel, is overexpressed in pancreatic ductal adenocarcinoma and intraepithelial neoplasia. (PubMed id 17714470)1, 9 Lee K.M....Ouellette M.M. (Histopathology 2007)
    8. Loss of class III beta-tubulin induced by histone deacetylation is associated with chemosensitivity to paclitaxel in malignant melanoma cells. (PubMed id 19122647)1, 9 Akasaka K....Masuda T. (J. Invest. Dermatol. 2009)
    9. Proteomic characterization of cytoskeletal and mitochondrial class III beta-tubulin. (PubMed id 18645017)1, 9 Cicchillitti L....Ferlini C. (Mol. Cancer Ther. 2008)
    10. Hypoxia induces class III beta-tubulin gene expression by HIF-1alpha binding to its 3' flanking region. (PubMed id 18178340)1, 9 Raspaglio G....Ferlini C. (Gene 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 10381 HGNC: 20772 AceView: MC1RandTUBB4 Ensembl:ENSG00000198211 euGenes: HUgn10381
    ECgene: TUBB3 Kegg: 10381 H-InvDB: TUBB3

    (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)
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    NameDescription
    PharmGKB entry for TUBB3 Pharmacogenomics, SNPs, Pathways

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

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



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