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TUBB2A Gene

protein-coding   GIFtS: 63
GCID: GC06M003153

Tubulin, Beta 2A Class IIa

(Previous names: tubulin, beta polypeptide, tubulin, beta 2, tubulin, beta...)
(Previous symbols: TUBB, TUBB2)
  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)
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Aliases
Tubulin, Beta 2A Class IIa1 2     Tubulin, Beta 2A1
TUBB21 2 3     Tubulin, Beta Polypeptide1
TUBB1 2     dJ40E16.72
Class IIa Beta-Tubulin1 2     Tubulin Beta-2A Chain2
Tubulin Beta Class IIa2 3     Tubulin, Beta Polypeptide 22
Tubulin, Beta 21     

External Ids:    HGNC: 124121   Entrez Gene: 72802   Ensembl: ENSG000001372677   OMIM: 6151015   UniProtKB: Q138853   

Export aliases for TUBB2A gene to outside databases

Previous GC identifers: GC06M003101 GC06M003024


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TUBB2A Gene:
TUBB2A (tubulin, beta 2A class IIa) is a protein-coding gene. Diseases associated with TUBB2A include polymicrogyria, asymmetric, and chondroblastoma. 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: TBB2A_HUMAN, Q13885
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 TUBB2A 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 TUBB2A 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:
NC_000006.12  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBB2A gene promoter:
         C/EBPbeta   AML1a   FOXJ2 (long isoform)   Olf-1   FOXJ2   NF-E2   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TUBB2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUBB2A


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

Entrez Gene cytogenetic band: 6p25   Ensembl cytogenetic band:  6p25.2   HGNC cytogenetic band: 6p25.2

TUBB2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB2A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M003153:  view genomic region     (about GC identifiers)

Start:
3,153,900 bp from pter      End:
3,157,783 bp from pter
Size:
3,884 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TBB2A_HUMAN, Q13885 (See protein sequence)
Recommended Name: Tubulin beta-2A chain  
Size: 445 amino acids; 49907 Da
Subunit: Interacts with ZNRF1 (By similarity). Part of a complex composed at least of ASCL2, C11orf30/EMSY, HCFC1,
HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific
methyltransferase activity (By similarity). 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: Q6FGZ8 Q8IWR2

Explore the universe of human proteins at neXtProt for TUBB2A: NX_Q13885

Explore proteomics data for TUBB2A at MOPED

Post-translational modifications: 

  • Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate
    residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not
    polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin
    incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles,
    axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and
    lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such
    modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable)1
  • Ubiquitination2 at Lys58, Lys103, Lys216, Lys252, Lys297, Lys324, Lys336, Lys350, Lys362, Lys379
  • Modification sites at PhosphoSitePlus

  • See TUBB2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001060.1  
    ENSEMBL proteins: 
     ENSP00000369703  
    Reactome Protein details: Q13885

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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 Q13885

    ProtoNet protein and cluster: Q13885

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB2A_HUMAN, Q13885
    Similarity: Belongs to the tubulin family


    TUBB2A 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TBB2A_HUMAN, Q13885
    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    TUBB2A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TUBB2A
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    hsa-mir-484 (MIRT041626)

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    hsa-miR-29a hsa-miR-29c hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidTUBB2A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TBB2A_HUMAN, Q13885: Cytoplasm, cytoskeleton (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane4
    cytosol3
    nucleus2
    peroxisome1

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

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

    TUBB2A for ontologies           About GeneDecksing


    (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 TUBB2A About   (see all 23)  
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBB2A (see all 11)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    Signaling in Gap Junctions
    Epithelial Adherens Junctions

    Selected GeneGo (Thomson Reuters) Pathways for TUBB2A (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

    4 BioSystems Pathways for TUBB2A
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection
    Signaling events mediated by HDAC Class III
    Signaling events mediated by HDAC Class II


    Selected Reactome Pathways for TUBB2A (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 TUBB2A):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBB2A for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBB2A: 
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBB2A

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

    Selected Interacting proteins for TUBB2A (Q138852, 3 ENSP000003697034) via UniProtKB, MINT, STRING, and/or I2D (see all 323)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHGBP050602, 3, ENSP000003682444MINT-64589 I2D: score=3 STRING: ENSP00000368244
    TK1P041832, 3MINT-63373 MINT-8274302 I2D: score=3 
    ARL15Q9NXU52, 3MINT-64617 I2D: score=3 
    PAFAH1B3Q151022, 3MINT-64209 I2D: score=3 
    PSMD11O002312, 3MINT-63033 I2D: score=3 
    About this table

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

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

    TUBB2A for ontologies           About GeneDecksing



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

    Compounds for TUBB2A 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]

    1 HMDB Compound for TUBB2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TUBB2A gene: 
    NM_001069.2  

    Unigene Cluster for TUBB2A:

    Tubulin, beta 2A class IIa
    Hs.654543  [show with all ESTs]
    Unigene Representative Sequence: BM470828
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333628(uc003mvb.3 uc003mvc.3) ENST00000489942
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TUBB2A
      QuantiFast Probe-based Assays in human, mouse, rat TUBB2A

    Additional mRNA sequence: 

    AK308772.1 AK312621.1 AY159127.1 BC001194.1 BC018780.1 BC127873.1 BC131577.1 BC141924.1 
    BC141925.1 CR541958.1 X79535.1 

    Selected DOTS entries (see all 57):

    DT.100893166  DT.100059854  DT.91788697  DT.100892977  DT.91715419  DT.100893086  DT.121379771  DT.100893198 
    DT.95211698  DT.99932223  DT.100893036  DT.100893165  DT.100893069  DT.100893096  DT.100893094  DT.121379949 
    DT.92067601  DT.100893270  DT.121380111  DT.40316055  DT.95152292  DT.100841342  DT.100892950  DT.100893200 

    Selected AceView cDNA sequences (see all 2209):

    BQ068398 BX419041 BU528035 CR590307 AA350752 BX460090 CR626317 BQ277737 
    BQ063526 AL534843 CR594523 CB149562 BQ057308 AL537528 BQ669114 CR613984 
    CR591455 CR609813 AL534470 CR607249 CR625191 AL538033 CR617869 BM748002 

    GeneLoc Exon Structure


    (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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    TUBB2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTAGAAAAA
    TUBB2A Expression
    About this image


    TUBB2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
    TUBB2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBB2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654543

    UniProtKB/Swiss-Prot: TBB2A_HUMAN, Q13885
    Tissue specificity: High expression in brain, where it represents 30% of all beta-tubulins

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBB2A: 
              Gap Junctions in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBB2A

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

    Orthologs for TUBB2A gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tubb2a1 , 5 tubulin, beta 2A class IIA1, 5 91.76(n)1
    100(a)1
      13 (14.03 cM)5
    221511  NM_009450.21  NP_033476.11 
     340743015 
    chicken
    (Gallus gallus)
    Aves --
    TUBB2B6
    Uncharacterized protein
    Gallus gallus tubulin, beta 2B class IIb (TUBB2B),...
    99(a)
    99(a)
    many ↔ many
    many ↔ many
    2(66383182-66388095)
    2(66367678-66370171)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    99(a)
    98(a)
    many ↔ many
    many ↔ many
    GL343247.1(1065224-1078450)
    GL343247.1(1045759-1055254)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tubb4a1 tubulin, beta 4A class IVa 83.02(n)
    97.44(a)
      394927  NM_001037268.1  NP_001032345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1123351 zgc:112335 83.49(n)
    97.44(a)
      554127  NM_001024422.1  NP_001019593.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta betaTub97EF1 beta-Tubulin at 97EF 81.09(n)
    89.07(a)
      43359  NM_001170282.2  NP_001163753.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tbb-46
    mec-76
    Protein MEC-7 (mec-7) mRNA, complete cds
    93(a)
    93(a)
    many ↔ many
    many ↔ many
    X(9434452-9436893) WBGene00006538
    X(7774856-7776682) WBGene00003171
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB26
    Beta-tubulin; associates with alpha-tubulin (Tub1p...
    72(a)
    1 → many
    VI(56336-57709) YFL037W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUB71 TUB7 72.33(n)
    86.28(a)
      817504  NM_128508.2  NP_180515.1 
    rice
    (Oryza sativa)
    Liliopsida NM_187634.12   -- 81.75(n)    NM_187634.1 


    ENSEMBL Gene Tree for TUBB2A (if available)
    TreeFam Gene Tree for TUBB2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for TUBB2A gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  
    TUBE12  TUBB62  ENSG000002589472  TUBB12  
    Selected SIMAP similar genes for TUBB2A using alignment to 3 protein entries:     TBB2A_HUMAN (see all proteins) (see all similar genes):
    TUBB2B    DKFZp566F223    TUBB4B    TUBB2C    XTP3TPATP1    TUBB3
    TUBB    TUBB8    TUBB4Q    TUBB6    TUBB1    TUBB4A
    TUBA1A    TUBA1C    TUBA4A    TUBA2    TUBA3C    TUBA3D

    TUBB2A for paralogs           About GeneDecksing



    (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 TUBB2A (see all 158)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361974
    A colorectal cancer sample4--see VAR_0361972 R W mis40--------
    rs32050071,2
    C--3153990(-) AATTCA/CCACTG 1 -- ut31 ese32Minor allele frequency- C:0.00MN NA 186
    rs1452155071,2
    C--3154007(+) AGAGGC/TAAAAC 1 -- ut310--------
    rs728433261,2
    C--3154059(+) CAACAG/TAAGTT 1 -- ut310--------
    rs2022078831,2
    --3154105(+) AGCCTC/TGTCCT 2 K E mis10--------
    rs626377131,2
    C,F--3154112(+) TCCTCG/ACCCTC 2 /G syn13Minor allele frequency- A:0.01NS NA EU 5953
    rs1451848321,2
    C,F--3154655(+) CGAGGG/AAAGGG 2 /F syn12Minor allele frequency- A:0.00NA EU 3281
    rs115502581,2
    C--3154826(-) ATTGAT/CAACGA 2 /D syn11Minor allele frequency- C:0.00EU 1317
    rs178494431,2
    C,F--3154871(+) TGGACC/AGAGAG 2 /S syn13Minor allele frequency- A:0.47NA EU 5609
    rs763344331,2
    C,F--3154882(+) GGTGGC/TGTTGT 2 T A mis11Minor allele frequency- T:0.00EU 1301

    HapMap Linkage Disequilibrium report for TUBB2A (3153900 - 3157783 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TUBB2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2624823CNV Deletion19546169
    esv2731488CNV Deletion23290073
    esv4042CNV Deletion18987735
    esv7105CNV Loss19470904
    nsv883406CNV Loss21882294
    nsv462614CNV Gain19166990
    nsv883405CNV Gain21882294

    Human Gene Mutation Database (HGMD): TUBB2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBB2A
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBB2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615101    OMIM disorders: --

    Selected diseases for TUBB2A (see all 23):    
    About MalaCards
    polymicrogyria, asymmetric    chondroblastoma    polymicrogyria    nephronophthisis
    endocarditis    peripheral neuropathy    brain cancer    neuropathy
    huntington's disease    hiv-1    breast and colorectal cancer    hodgkin's lymphoma
    schizophrenia    parkinson's disease    alzheimer's disease    lung cancer
    colorectal cancer    multiple myeloma    neuronitis    prostate cancer


    TUBB2A for disorders           About GeneDecksing

    Genetic Association Database (GAD): TUBB2A

    Export disorders for TUBB2A 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 TUBB2A gene, integrated from 10 sources (see all 133):
    (articles sorted by number of sources associating them with TUBB2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2, 3 Mungall A.J.... Beck S. (Nature 2003)
    2. 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)
    3. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (Mol. Endocrinol. 2013)
    4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (PLoS Genet. 2013)
    5. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....YA!A+ez-MA^ M. (J. Biol. Chem. 2013)
    6. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    7. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (Nat. Methods 2013)
    8. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    9. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    10. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7280 HGNC: 12412 AceView: TUBBandMGC8685 Ensembl:ENSG00000137267 euGenes: HUgn7280
    ECgene: TUBB2A Kegg: 7280 H-InvDB: TUBB2A

    (According to HUGE)
    About This Section

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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 TUBB2A 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 TUBB2A gene:
    Search GeneIP for patents involving TUBB2A

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



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