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

TUBA3C Gene

protein-coding   GIFtS: 57
GCID: GC13M019747

tubulin, alpha 3c

(Previous names: tubulin, alpha 2 )
(Previous symbol: TUBA2)
 Explore 16 diseases affiliated with
TUBA3C via our new
 Human Malady Compendium 
Biological research products
for TUBA3C
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tubulin, Alpha 3c1 2     Alpha-Tubulin 22 3
TUBA21 2 3 5     Alpha-Tubulin 3C/D2 3
BA408E5.31     Tubulin Alpha-2 Chain2 3
Tubulin, Alpha 21 2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TUBA3C:
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)

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:
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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.1  NT_024524.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TUBA3C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm, cytoskeleton
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13748

  • TUBA3C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005992.1  
    ENSEMBL proteins: 
     ENSP00000382982  
    Reactome Protein details: Q13748
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005874microtubule ----
    GO:0005881cytoplasmic microtubule ----


    TUBA3C for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TUBA3C for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR002452 Alpha_tubulin
     IPR000217 Tubulin
     IPR003008 Tubulin_FtsZ_GTPase
     IPR023123 Tubulin_C
     IPR008280 Tub_FtsZ_C

    Graphical View of Domain Structure for InterPro Entry Q13748

    ProtoNet protein and cluster: Q13748

    1 Blocks protein family: IPB002452 Alpha tubulin signature

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity ----
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton ----
    GO:0005515protein binding ----
    GO:0005525GTP binding ----


    TUBA3C for ontologies           About GeneDecksing


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/28 super-pathways (see all 28About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1M Phase
    M Phase1.00
    Mitotic Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Separation of Sister Chromatids0.80
    Mitotic Metaphase and Anaphase0.85
    2Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes1.00
    G2/M Transition0.83
    Centrosome maturation1.00
    Mitotic G2-G2/M phases0.81
    3Axon guidance
    Axon guidance1.00
    L1CAM interactions0.39
    Developmental Biology0.69
    Recycling pathway of L10.15
    4Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
    Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane1.00
    Post-chaperonin tubulin folding pathway0.67
    Transport of connexons to the plasma membrane0.93
    Recruitment of NuMA to mitotic centrosomes0.50
    5Formation of tubulin folding intermediates by CCT/TriC
    Formation of tubulin folding intermediates by CCT/TriC1.00
    Prefoldin mediated transfer of substrate to CCT/TriC0.70
    Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding0.74

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/9 EMD Millipore Pathways for TUBA3C (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 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 
        Pathogenic Escherichia coli infection
    Parkin-Ubiquitin Proteasomal System pathway

    5/41        Reactome Pathways for TUBA3C (see all 41)
        L1CAM interactions
    Mitotic Prometaphase
    Membrane Trafficking
    Protein folding
    Recruitment of mitotic centrosome proteins and complexes


    3         Kegg Pathways  (Kegg details for TUBA3C):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA3C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBA3C

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

    5/99 Interacting proteins for TUBA3C (Q137481, 2, 3 ENSP000003829824) via UniProtKB, MINT, STRING, and/or I2D (see all 99)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization ----
    GO:0006457protein folding ----
    GO:0007017microtubule-based process ----
    GO:0007018microtubule-based movement ----
    GO:0044267cellular protein metabolic process ----


    TUBA3C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 TUBA3C available from Tocris Bioscience    About this table
    CompoundAction CAS #
    XRP44XRas-Net pathway inhibitor[729605-21-4]
    TaxolPromotes assembly and inhibits disassembly of microtubules[33069-62-4]
    Vincristine sulfateDisrupts microtubules[2068-78-2]
    Vinblastine sulfateDisrupts microtubules[143-67-9]
    NocodazoleMicrotubule inhibitor[31430-18-9]

    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

    Search CenterWatch for drugs/clinical trials and news about TUBA3C / TBA3C 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400113(uc009zzj.3) ENST00000464959 ENST00000430383 ENST00000461875
    ENST00000478439

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    Additional cDNA sequence: BC011721.2 

    4 DOTS entries:

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

    24/48 AceView cDNA sequences (see all 48):

    BC011721 NM_079836 NM_006001 L11645 AA903650 BV204633 BV204626 BP369730 
    AA412719 BF125857 BM917669 BV204642 BG718309 BI550609 BI462421 BG717026 
    BV204643 BV204618 AA709190 BG722772 BV204638 CA444124 BU193675 BI559710 

    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

    TUBA3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGAGCAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TUBA3C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBA3C

    SOURCE GeneReport for Unigene cluster: Hs.349695

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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TUBA3C gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TUBA3E1 tubulin, alpha 3e 81.56(n)
    99.11(a)
      425049  XM_422851.3  XP_422851.1 
    lizard
    (Anolis carolinensis)
    Reptilia TUBA3D6
    --
    100(a)
    1 → many
    3(28271222-28274672)
    zebrafish
    (Danio rerio)
    Actinopterygii tuba7l1 tubulin, alpha 7 like 81.74(n)
    95.1(a)
      431777  NM_001002230.1  NP_001002230.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta alphaTub85E6
    alpha-Tubulin at 85E
    95(a)
    possible ortholog
    3R(5556943-5558987)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUA66
    TUA46
    (see all 6)
    tubulin alpha-2/alpha-4 chain
    (see all 6)
    84(a)
    84(a)
    (see all 6)
    possible ortholog
    possible ortholog
    (see all 6)
    4(8548492-8550453)
    1(1356191-1358386)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    tubulin/FtsZ domain containing protein, putative, ...
    tubulin/FtsZ domain containing protein, putative, ...
    (see all 4)
    83(a)
    82(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    3(29519151-29522158)
    7(23242800-23246249)


    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)
    About This Section
    Paralogs for TUBA3C gene
    TUBA3D1 2  TUBA4A2  TUBA1C2  TUBA1B2  TUBAL32  TUBA1A2  TUBA3E2  TUBA82  
    18/27 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, UniProtKB, 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

    10/377 NCBI SNPs in TUBA3C are shown (see all 377    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1457310981,2
    Cother19748267(+) CCAGGG/AACCAC 2 /V syn11Minor allele frequency- A:0.00NA 4534
    rs362172421,2
    C,--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

    HapMap Linkage Disequilibrium report for TUBA3C (19747910 - 19755992 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TUBA3C
         1 CNV: 49181

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TUBA3C for disorders           About GeneDecksing

    OMIM gene information: 602528    OMIM disorders: --

    16 diseases for TUBA3C:    About MalaCards
    ectodermal dysplasia    limb-girdle muscular dystrophy    kabuki syndrome    muscular dystrophy
    nonsyndromic deafness    dfnb1    clouston syndrome    genetic disease
    acute myeloid leukemia    myeloid leukemia    leukemia    neuroblastoma
    immunodeficiency    malaria    neuronitis    limb-girdle muscular dystrophy, type 2c

    1 Novoseek 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)


    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)
    About This Section

    PubMed articles for TUBA3C gene, integrated from 9 sources (see all 52):
    (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. (1998)
    2. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (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. (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. (1999)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resi stance. (PubMed id 22581228)1 Manning A.K....Langenberg C. (2012)
    7. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    8. Proteomic dissection of the von Hippel-Lindau (VHL) i nteractome. (PubMed id 21942715)1 Lai Y....Shiio Y. (2011)
    9. Huwe1, a novel cellular interactor of Gag-Pol through integrase binding, negatively influences HIV-1 infectivity. (PubMed id 21167302)1 Yamamoto S.P....Suzuki Y. (2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7278 HGNC: 12408 AceView: TUBA2 Ensembl:ENSG00000198033 euGenes: HUgn7278
    ECgene: TUBA3C Kegg: 7278 H-InvDB: TUBA3C

    (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 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.)
    About This Section
    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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