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TUBB4A Gene

protein-coding   GIFtS: 58
GCID: GC19M006496

Tubulin, Beta 4A Class IVa

(Previous names: tubulin, beta 4, tubulin, beta 4 class IVa, dystonia 4,...)
(Previous symbols: TUBB4, DYT4)
  See TUBB4A-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 4A Class IVa1 2     Tubulin, Beta 41
TUBB41 2 3 5     Tubulin, Beta 4 Class IVa1
DYT41 2 5     beta-52
TUBB52 3 5     Tubulin Beta-4A Chain2
Dystonia 4, Torsion (Autosomal Dominant)1 2     Tubulin, Beta, 52
Tubulin Beta-4 Chain2 3     Tubulin 5 Beta3
Class IVa Beta-Tubulin1     HLD65

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TUBB4A Gene:
This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha
and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause
hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in
multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X.
(provided by RefSeq, Jan 2014)

GeneCards Summary for TUBB4A Gene:
TUBB4A (tubulin, beta 4A class IVa) is a protein-coding gene. Diseases associated with TUBB4A include dystonia 4, and hypomyelination with atrophy of basal ganglia and cerebellum. 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: 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TUBB4A
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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. 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: B3KQP4 Q969E5

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

Explore proteomics data for TUBB4A 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 Lys216, Lys252, Lys297, Lys350
  • Modification sites at PhosphoSitePlus

  • See TUBB4A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001276052.1  NP_001276056.1  NP_001276058.1  NP_001276059.1  NP_001276060.1  NP_006078.2  

    ENSEMBL proteins: 
     ENSP00000264071   ENSP00000472481   ENSP00000469936   ENSP00000470983   ENSP00000469560  
     ENSP00000471320   ENSP00000472795   ENSP00000471880   ENSP00000472375   ENSP00000468843  
     ENSP00000471503   ENSP00000469660   ENSP00000470627   ENSP00000443590  
    Reactome Protein details: P04350

    TUBB4A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TUBB4A 

     
    antibodies-online proteins for TUBB4A (13 products) 

     
    antibodies-online peptides for TUBB4A

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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 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


    Find genes that share domains with TUBB4A           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: 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:    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--
         
    Find genes that share ontologies with TUBB4A           About GenesLikeMe


    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:
       genOway: Develop your customized and physiologically relevant rodent model for TUBB4A

    miRNA
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    miRTarBase miRNAs that target TUBB4A:
    hsa-mir-1226-3p (MIRT036536), hsa-mir-124-3p (MIRT022751)

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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
    TBB4A_HUMAN, P04350: Cytoplasm, cytoskeleton

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

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

    Find genes that share ontologies with TUBB4A           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 TUBB4A About   (see all 15)  
    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
    4Regulation of PLK1 Activity at G2/M Transition
    Recruitment of mitotic centrosome proteins and complexes0.86
    Regulation of PLK1 Activity at G2/M Transition0.77
    Loss of Nlp from mitotic centrosomes0.86
    G2/M Transition0.70
    Centrosome maturation0.86
    Mitotic G2-G2/M phases0.69
    Loss of proteins required for interphase microtubule organizationfrom the centrosome0.86
    5Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91


    Find genes that share SuperPaths with TUBB4A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBB4A (see all 9)
        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 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


    Selected Reactome Pathways for TUBB4A (see all 17)
        Resolution of Sister Chromatid Cohesion
    Prefoldin mediated transfer of substrate to CCT/TriC
    Mitotic Prometaphase
    Recruitment of mitotic centrosome proteins and complexes
    Recruitment of NuMA to mitotic centrosomes


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TUBB4A
    Interactions:

        Search GeneGlobe Interaction Network for TUBB4A

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

    Selected Interacting proteins for TUBB4A (P043501, 2, 3 ENSP000002640714) via UniProtKB, MINT, STRING, and/or I2D (see all 167)
    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): Selected biological process terms (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--

    Find genes that share ontologies with TUBB4A           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 compounds at ApexBio 

    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]



    (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 TUBB4A gene (6 alternative transcripts): 
    NM_001289123.1  NM_001289127.1  NM_001289129.1  NM_001289130.1  NM_001289131.1  NM_006087.3  

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 354):

    BP361928 BP349007 BM665448 BP348634 BQ949921 AA355255 BP347561 BQ217027 
    CB155542 AA323176 BP347568 BI035863 BU508368 BP362405 BX420124 CB153724 
    BQ677707 BP347939 BF771920 BP362037 CB153990 BP350428 BU177638 BP360406 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    TUBB4A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Cilliated Cells Trachea
             Trachea
             Lung epithelial-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
     
     Epithelial Cells
             Cilliated Cells Respiratory Bronchioles
     
     Bone (Muscoskeletal System)
             Bone Marrow
    TUBB4A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBB4A Protein Expression

    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. In the brain, highest
    expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low
    levels, if any, in other tissues

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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TUBB4A gene from Selected species (see all 14)    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 --
    Uncharacterized protein
    98(a)
    many ↔ many
    2(76112704-76144833)
    zebrafish
    (Danio rerio)
    Actinopterygii wu:fj41e111 wu:fj41e11 83.84(n)
    97.66(a)
      335983  XM_003198161.2  XP_003198209.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta betaTub60D1 beta-Tubulin at 60D 84.47(n)
    91.57(a)
      37888  NM_079118.2  NP_523842.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUB91 TUB9 69.32(n)
    85.95(a)
      827837  NM_118207.2  NP_193821.1 


    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)
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    Paralogs for TUBB4A gene
    LOC2603342  TUBB8P72  TUBB2  TUBB4B2  TUBB82  TUBB2B2  TUBB32  TUBE12  
    TUBB62  TUBB2A2  ENSG000002589472  TUBB12  
    Selected SIMAP similar genes for TUBB4A using alignment to 13 protein entries:     TBB4A_HUMAN (see all proteins) (see all similar genes):
    XTP3TPATP1    DKFZp566F223    TUBB2B    TUBB3    TUBB    TUBB2C
    TUBB4B    TUBB2A    TUBB4Q    TUBB6    TUBB8    TUBB1
    TUBA1    TUBA8    NAA25    TUBA1A    TUBA4A    TUBA1B

    Find genes that share paralogs with TUBB4A           About GenesLikeMe


    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), 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 TUBB4A (see all 265)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0697994
    Leukodystrophy, hypomyelinating, 6 (HLD)4--see VAR_0697992 D N mis40--------
    VAR_0697984
    Dystonia 4, torsion, autosomal dominant (DYT4)4--see VAR_0697982 R G mis40--------
    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--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBB4A
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBB4A

    (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: 602662   
    OMIM disorders: 128101  612438  
    UniProtKB/Swiss-Prot: TBB4A_HUMAN, P04350
  • Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101]: A form of torsion dystonia, a disease
    defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
    'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by
    onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other
    muscles, such as the neck or limbs. Some patients develop an ataxic gait. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Leukodystrophy, hypomyelinating, 6 (HLD) [MIM:612438]: A neurologic disorder characterized by onset in
    infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement
    disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic
    tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some
    can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or
    disappearance of the putamen. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for TUBB4A:    
    About MalaCards
    dystonia 4    hypomyelination with atrophy of basal ganglia and cerebellum    dystonia 4, torsion, autosomal dominant type    torsion dystonia
    dystonia    leukodystrophy


    Find genes that share disorders with TUBB4A           About GenesLikeMe


    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)
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    PubMed articles for TUBB4A gene, integrated from 10 sources (see all 78):
    (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.-S.... Cowan N.J. (Nucleic Acids Res. 1984)
    2. A de novo mutation in the I^-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. (PubMed id 23582646)1, 2 Simons C....Vanderver A. (Am. J. Hum. Genet. 2013)
    3. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. (PubMed id 23595291)1, 3 Lohmann K....Klein C. (Ann. Neurol. 2013)
    4. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. (PubMed id 23424103)1, 2 Hersheson J.... Houlden H. (Ann. Neurol. 2013)
    5. 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. (DNA Res. 2005)
    6. 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)
    7. 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. (Biochem. Biophys. Res. Commun. 1996)
    8. Identification of two human beta-tubulin isotypes. (PubMed id 6865944)1, 3 Hall J.L.... Cowan N.J. (Mol. Cell. Biol. 1983)
    9. 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)
    10. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PubMed id 23503679)1 Zhu J....Elledge S.J. (Nat. Biotechnol. 2013)

    (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: 10382 HGNC: 20774 AceView: TUBB5 Ensembl:ENSG00000104833 euGenes: HUgn10382
    ECgene: TUBB4A Kegg: 10382 H-InvDB: TUBB4A

    (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)
    About This Section

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    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.)
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    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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