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TUBA3C Gene

protein-coding   GIFtS: 62
GCID: GC13M019747

Tubulin, Alpha 3c

(Previous names: tubulin, alpha 2)
(Previous symbol: TUBA2)
  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, Alpha 3c1 2     Alpha-Tubulin 3C/D2 3
TUBA21 2 3 5     Tubulin Alpha-2 Chain2 3
Tubulin, Alpha 21 2     bA408E5.32
Alpha-Tubulin 22 3     Tubulin Alpha-3C/D Chain2

External Ids:    HGNC: 124081   Entrez Gene: 72782   Ensembl: ENSG000001980337   OMIM: 6025285   UniProtKB: Q137483   

Export aliases for TUBA3C gene to outside databases

Previous GC identifers: GC13M018646 GC13M000553


(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 TUBA3C Gene:
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a
heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin
superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families
are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while
gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta
tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that
encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located
in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and
Kabuki syndrome. (provided by RefSeq, Jul 2008)

GeneCards Summary for TUBA3C Gene:
TUBA3C (tubulin, alpha 3c) is a protein-coding gene. Diseases associated with TUBA3C include limb-girdle muscular dystrophy, type 2c, and dfnb1. An important paralog of this gene is TUBA4A.

UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
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 TUBA3C 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 TUBA3C (Alpha-tubulin 3C) 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_000013.11  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the TUBA3C gene promoter:
         SRF   AML1a   Sp1   SRF (504 AA)   Arnt   AREB6   Pax-3   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBA3C promoter sequence
   Search Chromatin IP Primers for TUBA3C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TUBA3C


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

Entrez Gene cytogenetic band: 13q11   Ensembl cytogenetic band:  13q12.11   HGNC cytogenetic band: 13q12.11

TUBA3C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA3C gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M019747:  view genomic region     (about GC identifiers)

Start:
19,747,910 bp from pter      End:
19,755,992 bp from pter
Size:
8,083 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748 (See protein sequence)
Recommended Name: Tubulin alpha-3C/D chain  
Size: 450 amino acids; 49960 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: A6NJQ0 Q5W099 Q6PEY3 Q96F18
Alternative splicing: 2 isoforms:  Q13748-1   Q13748-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TUBA3C: NX_Q13748

Explore proteomics data for TUBA3C at MOPED

Post-translational modifications: 

  • Undergoes a tyrosination/detyrosination cycle, the cyclic removal and re-addition of a C-terminal tyrosine residue
    by the enzymes tubulin tyrosine carboxypeptidase (TTCP) and tubulin tyrosine ligase (TTL), respectively (By
    similarity)1
  • 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
  • Acetylation of alpha chains at Lys-40 stabilizes microtubules and affects affinity and processivity of microtubule
    motors. This modification has a role in multiple cellular functions, ranging from cell motility, cell cycle
    progression or cell differentiation to intracellular trafficking and signaling (By similarity)1
  • Ubiquitination2 at Lys60, Lys96, Lys163, Lys280, Lys304, Lys326, Lys336, Lys338, Lys352, Lys370,
                                 Lys394, Lys401
  • Glycosylation2 at Asn380
  • Modification sites at PhosphoSitePlus

  • See TUBA3C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005992.1  
    ENSEMBL proteins: 
     ENSP00000382982  
    Reactome Protein details: Q13748

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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 7):
     IPR002452 Alpha_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 Q13748

    ProtoNet protein and cluster: Q13748

    1 Blocks protein domain: IPB002452 Alpha tubulin signature

    UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
    Similarity: Belongs to the tubulin family


    TUBA3C 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: TBA3C_HUMAN, Q13748
    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005200structural constituent of cytoskeleton ----
    GO:0005515protein binding ----
    GO:0005525GTP binding ----
    GO:0019904protein domain specific binding ----
         
    TUBA3C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TUBA3C:
     Increased cell number in G2M,  

    Animal Models:
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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
    TBA3C_HUMAN, Q13748: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005874microtubule ----
    GO:0005881cytoplasmic microtubule ----
    GO:0015630microtubule cytoskeleton ----
    GO:0043234protein complex ----

    TUBA3C 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 TUBA3C About   (see all 13)  
    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
    4Protein folding
    Chaperonin-mediated protein folding0.91
    Post-chaperonin tubulin folding pathway0.00
    Protein folding0.91
    5Prefoldin mediated transfer of substrate to CCT/TriC
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.76
    Prefoldin mediated transfer of substrate to CCT/TriC0.72
    Formation of tubulin folding intermediates by CCT/TriC0.76

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TUBA3C (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 TUBA3C (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 TUBA3C
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection


    Selected Reactome Pathways for TUBA3C (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 TUBA3C):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA3C for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBA3C: 
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBA3C

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

    Selected Interacting proteins for TUBA3C (Q137481, 2, 3 ENSP000003829824) via UniProtKB, MINT, STRING, and/or I2D (see all 151)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NFKB1P198382, 3, ENSP000002265744MINT-48558 MINT-48683 I2D: score=1 STRING: ENSP00000226574
    NMIQ132871, 3, ENSP000002433464EBI-355068,EBI-372942 I2D: score=5 STRING: ENSP00000243346
    CHUKO151112, 3, ENSP000003594244MINT-48061 I2D: score=2 STRING: ENSP00000359424
    NFKB2Q006532, 3MINT-48763 MINT-48622 I2D: score=2 
    IKBKEQ141642, 3MINT-48124 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ----
    GO:0006184GTP catabolic process ----
    GO:0006457protein folding ----
    GO:0007017microtubule-based process ----
    GO:0044267cellular protein metabolic process ----

    TUBA3C 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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    Compounds for TUBA3C 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 TUBA3C    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    2 DrugBank Compounds for TUBA3C    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Epothilone BEPO 906 (see all 3)152044-54-7target--17139284 17016423
    Epothilone D-- 189453-10-9target--17139284 17016423



    (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,
    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 TUBA3C gene (2 alternative transcripts): 
    NM_006001.2  NM_079836.1  

    Unigene Cluster for TUBA3C:

    Tubulin, alpha 3c
    Hs.349695  [show with all ESTs]
    Unigene Representative Sequence: NM_006001
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000400113(uc009zzj.3)
    miRNA
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    Additional mRNA sequence: BC011721.2 

    4 DOTS entries:

    DT.86999344  DT.100752332  DT.120793213  DT.75102144 

    Selected AceView cDNA sequences (see all 48):

    BC011721 L11645 AA903650 NM_006001 NM_079836 CA444124 BI460919 BI462421 
    BP369730 BV204636 BV204638 BV204633 BG771655 BI550609 BV204643 BV204618 
    BM917669 BM917035 AA402139 BG718309 AA412719 AA789282 BF125857 BV204642 

    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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    TUBA3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAGCAACA
    TUBA3C Expression
    About this image


    TUBA3C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             Testis Interstitium
    TUBA3C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBA3C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.349695

    UniProtKB/Swiss-Prot: TBA3C_HUMAN, Q13748
    Tissue specificity: Testis specific

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBA3C: 
              Gap Junctions in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TUBA3C

    (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 TUBA3C gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia LOC1008559951 tubulin alpha chain-like 82.33(n)
    88.81(a)
      100855995  XM_005622176.1  XP_005622233.1 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    99(a)
    1 → many
    9(23399168-23405755)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    100(a)
    1 → many
    3(28270544-28277986)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004902891 tubulin alpha-1A chain-like 84.85(n)
    97.73(a)
      100490289  XM_004917638.1  XP_004917695.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tuba1l1 tubulin, alpha 1, like 83.56(n)
    97.73(a)
      573122  NM_001105126.2  NP_001098596.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaTub84B6
    alpha-Tubulin at 84B
    98(a)
    many ↔ many
    3R(2912321-2914561)
    worm
    (Caenorhabditis elegans)
    Secernentea tba-26
    Protein TBA-2 (tba-2) mRNA, complete cds
    87(a)
    many ↔ many
    I(12964679-12966876) WBGene00006529
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB16
    Alpha-tubulin; associates with beta-tubulin (Tub2p...
    74(a)
    1 → many
    XIII(97941-99400) YML085C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUA51 TUA5 71.84(n)
    84.25(a)
      832098  NM_121983.3  NP_197479.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05748001 Os07g0574800 74.66(n)
    83.79(a)
      4343694  NM_001066610.1  NP_001060075.1 


    ENSEMBL Gene Tree for TUBA3C (if available)
    TreeFam Gene Tree for TUBA3C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TUBA3C gene
    TUBA3D1 2  TUBA4A2  TUBA1B2  TUBA1A2  TUBA3E2  TUBA1C2  TUBA82  
    Selected SIMAP similar genes for TUBA3C using alignment to 1 protein entry:     TBA3C_HUMAN(see all similar genes):
    TUBA2    TUBA1A    TUBA3E    TUBA4A    DKFZp686L04275    TUBA8
    TUBA4B    TUBAL3    TUBA1C    TUBA1B    MGC16703    TUBB2A
    TUBB2B    TUBB3    TUBB4Q    DKFZp566F223    TUBB1    TUBB2C

    TUBA3C 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 TUBA3C (see all 464)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs362172421,2
    C,F--19747430(-) ACACAC/TGGCCA 1 -- ds50015Minor allele frequency- T:0.00NS 190
    rs93192371,2
    C,F,A,H--19747452(+) GCAAAT/CGCTGT 1 -- ds500120Minor allele frequency- C:0.04NS NA EA 978
    rs1476486721,2
    --19747484(+) CTGGGC/TGTGTT 1 -- ds50010--------
    rs362172391,2
    C,F--19747553(-) TCAGGA/GCATTT 1 -- ds50017Minor allele frequency- G:0.03NS WA 310
    rs93192381,2
    C,F,A,H--19747576(+) GACCCA/GCAGCT 1 -- ds500120Minor allele frequency- G:0.04NS NA EA 978
    rs1905712531,2
    --19747601(+) GACAAA/GCCCCA 1 -- ds50010--------
    rs1819670951,2
    --19747659(+) AGCTCA/GCATCA 1 -- ds50010--------
    rs73347001,2
    C,F,H--19747678(+) TAGAAA/GAGCCC 1 -- ds500120Minor allele frequency- G:0.39NS EA WA NA CSA 956
    rs362172361,2
    C,F--19747689(-) TGCAAC/TTTTGG 1 -- ds50018Minor allele frequency- T:0.07NS WA NA EA 546
    rs104925231,2
    C,F,H--19747750(+) TTCTCC/TGTGTC 1 -- ds500127Minor allele frequency- T:0.04NS NA EA 2146

    HapMap Linkage Disequilibrium report for TUBA3C (19747910 - 19755992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TUBA3C (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673339CNV Deletion23128226
    esv2663766CNV Deletion23128226
    nsv455824CNV Loss19166990
    nsv899844CNV Loss21882294
    nsv515683CNV Loss19592680
    nsv826573CNV Loss20364138
    nsv523647CNV Loss19592680
    nsv528089CNV Loss19592680
    nsv455825CNV Loss19166990
    nsv482166CNV Gain20164927

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBA3C
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBA3C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602528    OMIM disorders: --

    15 diseases for TUBA3C:    
    About MalaCards
    limb-girdle muscular dystrophy, type 2c    dfnb1    kabuki syndrome    clouston syndrome
    ectodermal dysplasia    limb-girdle muscular dystrophy    nonsyndromic deafness    muscular dystrophy
    hiv-1    acute myeloid leukemia    neuroblastoma    myeloid leukemia
    insulin resistance    leukemia    neuronitis


    TUBA3C for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for TUBA3C gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hidrotic ectodermal dysplasia 92 1 9465305 (1)

    Genetic Association Database (GAD): TUBA3C

    Export disorders for TUBA3C 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 TUBA3C gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with TUBA3C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). (PubMed id 9465305)1, 2, 3, 9 Dode C.... Petit C. (Genomics 1998)
    2. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    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. (Genome Res. 2004)
    4. A radiation hybrid map of 48 loci including the clouston hidrotic ectodermal dysplasia locus in the pericentromeric region of chromosome 13q. (PubMed id 10036193)1, 9 Kibar Z....Rouleau G.A. (Genomics 1999)
    5. Acetylated I+-tubulin is reduced in individuals with poor sperm motility. (PubMed id 24268707)1 Bhagwat S....Parte P. (Fertil. Steril. 2014)
    6. 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)
    7. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    8. Proteome-wide identification of ubiquitylation sites by conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)1 Oshikawa K....Nakayama K.I. (J. Proteome Res. 2012)
    9. SGTA recognizes a noncanonical ubiquitin-like domain in the Bag6-Ubl4A-Trc35 complex to promote endoplasmic reticulum-associated degradation. (PubMed id 23246001)1 Xu Y....Ye Y. (Cell Rep 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7278 HGNC: 12408 AceView: TUBA2 Ensembl:ENSG00000198033 euGenes: HUgn7278
    ECgene: TUBA3C Kegg: 7278 H-InvDB: TUBA3C

    (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 TUBA3C Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Tubulin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TUBA3C gene:
    Search GeneIP for patents involving TUBA3C

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



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