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

TUBB2A Gene

protein-coding   GIFtS: 62
GCID: GC06M003153

Tubulin, Beta 2A Class IIa

(Previous names: tubulin, beta polypeptide, tubulin, beta 2, tubulin, beta...)
(Previous symbols: TUBB, TUBB2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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

GeneCards Summary for TUBB2A Gene: 
TUBB2A (tubulin, beta 2A class IIa) is a protein-coding gene. Diseases associated with TUBB2A include polymicrogyria, asymmetric, and polymicrogyria, and among its related super-pathways are Development Slit-Robo signaling and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include structural molecule activity and GTP binding. An important paralog of this gene is LOC260334.

UniProtKB/Swiss-Prot: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TUBB2A

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

UniProtKB/Swiss-Prot: TBB2A_HUMAN, Q13885 (See protein sequence)
Recommended Name: Tubulin beta-2A chain  
Size: 445 amino acids; 49907 Da
Subunit: Dimer of alpha and beta chains. Interacts with ZNRF1 (By similarity). Part of a complex composed at least
of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, KIAA1967, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may
have a histone H3-specific methyltransferase activity (By similarity)
Subcellular location: Cytoplasm, cytoskeleton (By similarity)
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:

  • UniProtKB: Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate
    residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not
    polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin
    incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles,
    axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and
    lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of such
    modifications is still unclear but they regulate the assembly and dynamics of axonemal microtubules (Probable)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13885

  • TUBB2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBB2A Protein Expression
    REFSEQ proteins: NP_001060.1  
    ENSEMBL proteins: 
     ENSP00000369703  
    Reactome Protein details: Q13885
    Human Recombinant Protein Products for TUBB2A: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    TUBB2A for ontologies           About GeneDecksing



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

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

    Graphical View of Domain Structure for InterPro Entry 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

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


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TUBB2A About   (see all 36)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31
    5M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Separation of Sister Chromatids0.94
    Mitotic M-M/G1 phases0.88
    Mitotic Metaphase and Anaphase0.94

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for TUBB2A (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments

    5/11 Downloadable PowerPoint Slides of QIAGEN 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

    5/10 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 II
    Signaling events mediated by HDAC Class III


    5/38        Reactome Pathways for TUBB2A (see all 38)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


    3         Kegg Pathways  (Kegg details for TUBB2A):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBB2A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBB2A

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

    5/271 Interacting proteins for TUBB2A (Q138852, 3 ENSP000003697034) via UniProtKB, MINT, STRING, and/or I2D (see all 271)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TK1P041832, 3MINT-63373 MINT-8274302 I2D: score=3 
    ARL15Q9NXU52, 3MINT-64617 I2D: score=3 
    CHGBP050602, 3MINT-64589 I2D: score=3 
    PAFAH1B3Q151022, 3MINT-64209 I2D: score=3 
    PSMD11O002312, 3MINT-63033 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

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

    TUBB2A for ontologies           About GeneDecksing



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

    Compounds for 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--

    Search CenterWatch for drugs/clinical trials and news about TUBB2A / TBB2A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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

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    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 

    24/57 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 

    24/2209 AceView cDNA sequences (see all 2209):

    AL535177 BM556705 AL535492 BU849436 BX441446 CR620206 BX441086 BU856446 
    BX460345 CR625254 CR612324 NM_001069 CR605559 BU527171 CR605836 BX419099 
    CR610781 CR625603 N94988 CR605791 CR610063 AW162929 BU850115 BU849936 

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

    TUBB2A expression in normal human tissues (normalized intensities)      TUBB2A embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebellum
             Trigeminal Ganglion   
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Gonad
             Secondary Oocyte Antral Follicle

    See TUBB2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBB2A

    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

        SABiosciences Expression via Pathway-Focused PCR Array including TUBB2A: 
              Gap Junctions in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TUBB2A gene from 9/16 species (see all 16)    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 LOC7683371 tubulin beta-2 chain-like 89.51(n)
    99.33(a)
      768337  XM_001231209.2  XP_001231210.2 
    lizard
    (Anolis carolinensis)
    Reptilia TUBB2B6
    TUBB2A6
    Uncharacterized protein
    99(a)
    98(a)
    many ↔ many
    many ↔ many
    GL343247.1(1065224-1078450)
    GL343247.1(1045759-1055254)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1231941 zgc:123194 84.42(n)
    95.94(a)
      641421  NM_001037410.1  NP_001032487.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta betaTub97EF1 beta-Tubulin at 97EF 80.93(n)
    87.61(a)
      43359  NM_001170282.1  NP_001163753.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-71 Protein MEC-7 75.13(n)
    92.74(a)
      181036  NM_076912.2  NP_509313.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB26
    Beta-tubulin; associates with alpha-tubulin (Tub1p...
    72(a)
    1 → many
    VI(56336-57709)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUB51 tubulin beta-5 chain 70.8(n)
    85.81(a)
      838590  NM_101856.2  NP_564101.1 
    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
    Paralogs for TUBB2A gene
    LOC2603342  TUBB2  TUBB4B2  TUBB4A2  TUBB82  TUBB2B2  TUBB32  TUBE12  
    TUBB62  ENSG000002589472  TUBB12  
    18/28 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/158 SNPs in TUBB2A are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 615101    OMIM disorders: --

    16 diseases for TUBB2A:    About MalaCards
    polymicrogyria, asymmetric    polymicrogyria    chondroblastoma    nephronophthisis
    endocarditis    peripheral neuropathy    huntington's disease    neuropathy
    parkinson's disease    schizophrenia    hodgkin's lymphoma    alzheimer's disease
    lung cancer    neuronitis    breast cancer    prostatitis


    TUBB2A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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)
    About This Section

    PubMed articles for TUBB2A gene, integrated from 9 sources (see all 130):
    (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. (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. (2004)
    3. Novel, gel-free proteomics approach identifies RNF5 an d JAMP as modulators of GPCR stability. (PubMed id 23798571)1 Roy S.J....Parent J.L. (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. (2013)
    5. The intracellular interactome of tetraspanin-enriched microdomains reveals their function as sorting machineries toward exosomes. (PubMed id 23463506)1 Perez-Hernandez D....Yanez-Mo M. (2013)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. 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. (2013)
    8. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    9. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (2012)
    10. Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)

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

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TUBB2A Pharmacogenomics, SNPs, Pathways

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



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

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