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

TUBB4A Gene

protein-coding   GIFtS: 59
GCID: GC19M006496

Tubulin, Beta 4A Class IVa

(Previous names: tubulin, beta 4, tubulin, beta 4 class IVa)
(Previous symbol: TUBB4)
  See related diseases
at  

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

Aliases
Tubulin, Beta 4A Class IVa1 2     Tubulin, Beta 41
TUBB41 2 3     DYT42
Tubulin, Beta 4 Class IVa1 2     HLD62
Class IVa Beta-Tubulin1 2     beta-52
Tubulin 5 Beta2 3     Tubulin Beta-4A Chain2
Tubulin Beta-4 Chain2 3     Tubulin, Beta, 52
TUBB52 3     

External Ids:    HGNC: 207741   Entrez Gene: 103822   Ensembl: ENSG000001048337   OMIM: 6026625   UniProtKB: P043503   

Export aliases for TUBB4A gene to outside databases


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

GeneCards Summary for TUBB4A Gene: 
TUBB4A (tubulin, beta 4A class IVa) is a protein-coding gene. Diseases associated with TUBB4A include primary dystonia, dyt4 type, and cerebral amyloid angiopathy, 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: TBB4A_HUMAN, P04350
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

summary for TUBB4A 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 TUBB4A (TUBB4) 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_000019.9  NT_011255.14  NC_018930.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TUBB4A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TUBB4A promoter sequence
   Search SABiosciences Chromatin IP Primers for TUBB4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBB4A


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

TUBB4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB4A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M006496:  view genomic region     (about GC identifiers)

Start:
6,494,330 bp from pter      End:
6,502,859 bp from pter
Size:
8,530 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: TBB4A_HUMAN, P04350 (See protein sequence)
Recommended Name: Tubulin beta-4A chain  
Size: 444 amino acids; 49586 Da
Subunit: Dimer of alpha and beta chains
Subcellular location: Cytoplasm, cytoskeleton
Secondary accessions: B3KQP4 Q969E5

Explore the universe of human proteins at neXtProt for TUBB4A: NX_P04350

Explore proteomics data for TUBB4A 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_P04350

  • TUBB4A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBB4A Protein Expression
    REFSEQ proteins: NP_006078.2  
    ENSEMBL proteins: 
     ENSP00000264071   ENSP00000472481   ENSP00000469936   ENSP00000470983   ENSP00000469560  
     ENSP00000471320   ENSP00000472795   ENSP00000471880   ENSP00000472375   ENSP00000468843  
     ENSP00000471503   ENSP00000469660   ENSP00000470627   ENSP00000443590  
    Reactome Protein details: P04350
    Human Recombinant Protein Products for TUBB4A: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material ----
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0005874microtubule IDA--
    GO:0005886plasma membrane IDA--

    TUBB4A 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 P04350

    ProtoNet protein and cluster: P04350

    1 Blocks protein domain: IPB002453 Beta tubulin

    UniProtKB/Swiss-Prot: TBB4A_HUMAN, P04350
    Domain: The highly acidic C-terminal region may bind cations such as calcium
    Similarity: Belongs to the tubulin family


    TUBB4A 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: TBB4A_HUMAN, P04350
    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

         Gene Ontology (GO): 4 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:0005515protein binding IPI--
    GO:0005525GTP binding IEA--
         
    TUBB4A for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for TUBB4A:
     Cell cycle / mitosis defect  Decreased POU5F1-GFP protein e  Increased cell number in G2M,   Lamellipodia cells 

    Animal Models:
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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 TUBB4A About   (see all 26)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    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 TUBB4A (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments


    5/10 GeneGo (Thomson Reuters) Pathways for TUBB4A (see all 10)
        Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Cell cycle Spindle assembly and chromosome separation
    Regulation of CFTR activity (norm and CF)
    Neurophysiological process Receptor-mediated axon growth repulsion
    Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for TUBB4A
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection

    5/40        Reactome Pathways for TUBB4A (see all 40)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


    3         Kegg Pathways  (Kegg details for TUBB4A):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBB4A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBB4A

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

    5/117 Interacting proteins for TUBB4A (P043501, 2, 3 ENSP000002640714) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB1P198382, 3, ENSP000002265744MINT-48552 MINT-48673 I2D: score=1 STRING: ENSP00000226574
    TJP1Q071572, 3, ENSP000002815374MINT-2984882 I2D: score=3 STRING: ENSP00000281537
    CHUKO151112, 3, ENSP000003594244MINT-48056 I2D: score=2 STRING: ENSP00000359424
    NFKB2Q006532, 3MINT-48610 MINT-48742 I2D: score=2 
    IKBKEQ141642, 3MINT-48116 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding TAS--
    GO:0007017microtubule-based process IEA--

    TUBB4A 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 TUBB4A 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]

    Search CenterWatch for drugs/clinical trials and news about TUBB4A / TBB4A

    (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 TUBB4A gene: 
    NM_006087.2  

    Unigene Cluster for TUBB4A:

    Tubulin, beta 4A class IVa
    Hs.110837  [show with all ESTs]
    Unigene Representative Sequence: NM_006087
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264071(uc002mff.1 uc002mfg.1) ENST00000594276 ENST00000594075
    ENST00000600216 ENST00000595324 ENST00000601152 ENST00000598006 ENST00000596291
    ENST00000597686 ENST00000596926 ENST00000594290 ENST00000601640 ENST00000598635
    ENST00000540257
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    Additional mRNA sequence: 

    AK075307.1 AK095202.1 AK293503.1 AK294102.1 AK295917.1 BC006570.2 BC013683.1 

    24/56 DOTS entries (see all 56):

    DT.318267  DT.95158077  DT.121417818  DT.121418030  DT.121417865  DT.121417775  DT.121418054  DT.121417995 
    DT.121417900  DT.121418070  DT.100821400  DT.100658283  DT.121418044  DT.121418034  DT.91915983  DT.121417877 
    DT.121418039  DT.121418069  DT.100821401  DT.91756369  DT.95348032  DT.100059285  DT.121418081  DT.91764176 

    24/354 AceView cDNA sequences (see all 354):

    BQ681008 BC013683 BP350428 BP361928 BM468553 BQ680733 BF924791 BP362433 
    BM541857 CB153227 H18894 R88447 BQ682692 BQ677707 BP362177 BU508368 
    BI035863 BP347568 AA323176 CB155542 BQ217027 BP347561 AA355255 BQ949921 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TUBB4A (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g
    SP1:        -     -     -                                               -     -                                                         
    SP2:              -                 -     -     -     -     -           -     -                                                         
    SP3:              -                                                     -     -                                                         
    SP4:              -     -                                               -     -                                                         
    SP5:              -                       -     -     -                 -     -                                                         


    ECgene alternative splicing isoforms for TUBB4A

    (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

    TUBB4A expression in normal human tissues (normalized intensities)      TUBB4A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATCCTCCCT
    TUBB4A Expression
    About this image


    TUBB4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 58 entries
             Epithalamus
             Septum   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 8 entries
             spinal/nerve   
     
     Spinal Cord (Nervous System)    fully expand to see all 8 entries
             Ventral Horn   
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Telencephalon
             brain/forebrain/diencephalon   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Cilliated Cells Trachea
             Trachea
             Lung epithelial-like cells ( Derivation of lung epithelial cells from human embryonic...

    See TUBB4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBB4A

    SOURCE GeneReport for Unigene cluster: Hs.110837

    UniProtKB/Swiss-Prot: TBB4A_HUMAN, P04350
    Tissue specificity: Major isotype in brain, where it represents 46% of all beta-tubulins

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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 TUBB4A gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tubb4a1 , 5 tubulin, beta 4A class IVA1, 5 87.84(n)1
    100(a)1
      17 (29.66 cM)5
    221531  NM_009451.31  NP_033477.21 
     570800665 
    lizard
    (Anolis carolinensis)
    Reptilia TUBB4A6
    tubulin, beta 4A class IVa
    98(a)
    1 ↔ 1
    2(76112704-76144833)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1534261 zgc:153426 83.78(n)
    97.3(a)
      767746  NM_001076715.1  NP_001070183.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUB41 tubulin beta-4 chain 71.2(n)
    85.03(a)
      834459  NM_123801.1  NP_199247.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g06613001 hypothetical protein 79.83(n)
    83.52(a)
      4333632  NM_001057360.1  NP_001050825.1 


    ENSEMBL Gene Tree for TUBB4A (if available)
    TreeFam Gene Tree for TUBB4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TUBB4A gene
    LOC2603342  TUBB2  TUBB4B2  TUBB82  TUBB2B2  TUBB32  TUBE12  TUBB62  
    TUBB2A2  ENSG000002589472  TUBB12  
    18/31 SIMAP similar genes for TUBB4A using alignment to 13 protein entries:     TBB4A_HUMAN (see all proteins) (see all similar genes):
    XTP3TPATP1    DKFZp566F223    TUBB3    TUBB2B    TUBB    TUBB4B
    TUBB2C    TUBB2A    TUBB4Q    TUBB6    TUBB8    TUBA1
    TUBA8    TUBB1    NAA25    TUBA1A    TUBA1B    TUBA4A

    TUBB4A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TUBB4A
    PGOHUM00000241990


    (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

    10/263 SNPs in TUBB4A are shown (see all 263)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1173753001,2
    C,F--6493839(+) CACCAC/TGCCCT 1 -- int11Minor allele frequency- T:0.13NA 120
    rs1851276091,2
    --6493959(+) GGTGTA/GAGCCA 1 -- int10--------
    rs1427163521,2
    --6493974(+) GCCCTA/GCCCCT 1 -- int10--------
    rs1895921051,2
    --6494070(+) ATTGGG/TACCCC 1 -- int10--------
    rs1121700231,2
    F--6494183(+) CTCAGG/TGTTAG 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs1465338621,2
    --6494230(+) GCACGC/TCCCCC 1 -- int10--------
    rs1400304201,2
    --6494319(+) GGATTC/TGGCAG 1 -- int10--------
    rs1127500961,2
    C--6494329(+) GAAACA/TTCCAT 1 -- spd10--------
    rs10533951,2
    C,F,A,H--6494371(+) GCAGGG/CAAGCG 1 -- ut31 ese312Minor allele frequency- C:0.28NA NS EA WA 904
    rs739206901,2
    C,F--6494475(+) GAGGCA/TGGGAG 1 -- ut312Minor allele frequency- T:0.09WA 120

    HapMap Linkage Disequilibrium report for TUBB4A (6494330 - 6502859 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TUBB4A: --

    Human Gene Mutation Database (HGMD): TUBB4A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602662    OMIM disorders: --

    5 diseases for TUBB4A:    About MalaCards
    primary dystonia, dyt4 type    cerebral amyloid angiopathy    cerebritis    prostatitis
    neuronitis


    TUBB4A for disorders           About GeneDecksing


    Export disorders for TUBB4A 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 TUBB4A gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with TUBB4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence of an expressed human beta-tubulin gene containing ten Alu family members. (PubMed id 6462917)1, 2, 3 Lee M.G....Cowan N.J. (1984)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. C-terminal fragments of alpha- and beta-tubulin form amyloid fibrils in vitro and associate with amyloid deposits of familial cerebral amyloid angiopathy, British type. (PubMed id 8619814)1, 2 Baumann M.H.... Ghiso J. (1996)
    5. Identification of two human beta-tubulin isotypes. (PubMed id 6865944)1, 3 Hall J.L.... Cowan N.J. (1983)
    6. 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)
    7. A de novo mutation in the b-tubulin gene TUBB4A result s in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia a nd cerebellum. (PubMed id 23582646)1 Simons C....Vanderver A. (2013)
    8. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (2013)
    9. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    10. Identifying protein partners of CLN8, an ER-resident p rotein involved in neuronal ceroid lipofuscinosis. (PubMed id 23142642)1 Passantino R....Guarneri P. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    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: 10382 HGNC: 20774 AceView: TUBB5 Ensembl:ENSG00000104833 euGenes: HUgn10382
    ECgene: TUBB4A Kegg: 10382 H-InvDB: TUBB4A

    (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 TUBB4A 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 TUBB4A gene:
    Search GeneIP for patents involving TUBB4A

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



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    About This Section

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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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