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

TUBA8 Gene

protein-coding   GIFtS: 67
GCID: GC22P018593

Tubulin, Alpha 8


(Previous symbol: TUBAL2)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tubulin, Alpha 81 2
TUBAL21 2 3 5
Tubulin Alpha Chain-Like 22 3
Tubulin Alpha-8 Chain2
Alpha-Tubulin 83

External Ids:    HGNC: 124101   Entrez Gene: 518072   Ensembl: ENSG000001837857   OMIM: 6057425   UniProtKB: Q9NY653   

Export aliases for TUBA8 gene to outside databases

Previous GC identifers: GC22P015533 GC22P016968 GC22P002405


(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 TUBA8 Gene:
This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein
families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene
are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript
variants. (provided by RefSeq, Jul 2010)

GeneCards Summary for TUBA8 Gene: 
TUBA8 (tubulin, alpha 8) is a protein-coding gene. Diseases associated with TUBA8 include polymicrogyria with optic nerve hypoplasia, and colpocephaly, 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 TUBA3C.

UniProtKB/Swiss-Prot: TBA8_HUMAN, Q9NY65
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 TUBA8 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 TUBA8 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_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TUBA8 gene promoter:
         HEN1   S8   AML1a   p53   GATA-3   FOXJ2 (long isoform)   POU3F2   GATA-1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTUBA8 promoter sequence
   Search SABiosciences Chromatin IP Primers for TUBA8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBA8


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

Entrez Gene cytogenetic band: 22q11.1   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11

TUBA8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBA8 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P018593:  view genomic region     (about GC identifiers)

Start:
18,593,097 bp from pter      End:
18,614,498 bp from pter
Size:
21,402 bases      Orientation:
plus 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: TBA8_HUMAN, Q9NY65 (See protein sequence)
Recommended Name: Tubulin alpha-8 chain  
Size: 449 amino acids; 50094 Da
Subunit: Dimer of alpha and beta chains
Subcellular location: Cytoplasm, cytoskeleton
Miscellaneous: This tubulin does not have a C-terminal tyrosine
Secondary accessions: B2RCX2 B3KPW9 B4DWG3 Q2M3N4
Alternative splicing: 2 isoforms:  Q9NY65-1   Q9NY65-2   

Explore the universe of human proteins at neXtProt for TUBA8: NX_Q9NY65

Explore proteomics data for TUBA8 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_Q9NY65

  • TUBA8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TUBA8 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001180343.1  NP_061816.1  

    ENSEMBL proteins: 
     ENSP00000407624   ENSP00000318575   ENSP00000333326   ENSP00000412646  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005874microtubule IEA--
    GO:0043234protein complex ----

    TUBA8 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

    5/7 InterPro protein domains (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 Q9NY65

    ProtoNet protein and cluster: Q9NY65

    1 Blocks protein domain: IPB002452 Alpha tubulin signature

    UniProtKB/Swiss-Prot: TBA8_HUMAN, Q9NY65
    Similarity: Belongs to the tubulin family


    TUBA8 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: TBA8_HUMAN, Q9NY65
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    TUBA8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TUBA8:
     Decreased viability with pacli  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TUBA8 
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    hsa-miR-320a hsa-miR-214 hsa-miR-320b hsa-miR-4311 hsa-miR-320d hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidTUBA8 3' UTR sequence
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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 TUBA8 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.43
    Cytoskeleton remodeling Slit-Robo signaling0.92
    Pathogenic Escherichia coli infection0.41
    2Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
    Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway0.93
    Parkin-Ubiquitin Proteasomal System pathway0.89
    3Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    4Signaling in Gap Junctions
    Signaling in Gap Junctions0.31
    Gap junction0.31
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/9 EMD Millipore Pathways for TUBA8 (see all 9)
        Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Slit-Robo signaling
    Cytoplasmic microtubules
    Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Keratin filaments

    5/11 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TUBA8 (see all 11)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    Signaling in Gap Junctions
    Epithelial Adherens Junctions

    5/10 GeneGo (Thomson Reuters) Pathways for TUBA8 (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 TUBA8
        Parkin-Ubiquitin Proteasomal System pathway
    Pathogenic Escherichia coli infection



    3         Kegg Pathways  (Kegg details for TUBA8):
        Phagosome
    Gap junction
    Pathogenic Escherichia coli infection


    TUBA8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TUBA8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/12 Interacting proteins for TUBA8 (Q9NY652, 3 ENSP000003333264) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48217 I2D: score=2 
    GRM7Q148313, ENSP000003503484I2D: score=1 STRING: ENSP00000350348
    MEPCEQ7L2J03, ENSP000003085464I2D: score=1 STRING: ENSP00000308546
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    SIAH1Q8IUQ43, ENSP000003491564I2D: score=1 STRING: ENSP00000349156
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006184GTP catabolic process ----
    GO:0007017microtubule-based process IEA--
    GO:0051258protein polymerization IEA--

    TUBA8 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 TUBA8 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 TUBA8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    2 DrugBank Compounds for TUBA8    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 TUBA8 / TBA8

    (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 TUBA8 gene (2 alternative transcripts): 
    NM_001193414.1  NM_018943.2  

    Unigene Cluster for TUBA8:

    Tubulin, alpha 8
    Hs.137400  [show with all ESTs]
    Unigene Representative Sequence: NM_018943
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426208 ENST00000316027 ENST00000330423(uc002znv.2 uc021wkt.1 uc002znw.1)
    ENST00000416740

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    hsa-miR-320a hsa-miR-214 hsa-miR-320b hsa-miR-4311 hsa-miR-320d hsa-miR-761
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    Additional mRNA sequence: 

    AJ245922.1 AK056947.1 AK315316.1 BC074827.2 BC104845.1 BX537702.1 CR456600.1 

    4 DOTS entries:

    DT.428261  DT.95253738  DT.75173237  DT.100658425 

    24/181 AceView cDNA sequences (see all 181):

    BF059267 CA427902 BC074827 BM700432 BE326971 CA424779 F36680 BC016280 
    AJ245922 F35549 CR620426 CA433324 AW235279 BQ100690 AK056947 NM_017929 
    AW263176 BI917830 BX537702 BM511724 CB153452 AI636019 CR621131 BQ943945 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for TUBA8    About this scheme

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


    ECgene alternative splicing isoforms for TUBA8

    (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

    TUBA8 expression in normal human tissues (normalized intensities)      TUBA8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGCCAAGC
    TUBA8 Expression
    About this image


    TUBA8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac

    See TUBA8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TUBA8

    SOURCE GeneReport for Unigene cluster: Hs.137400

    UniProtKB/Swiss-Prot: TBA8_HUMAN, Q9NY65
    Tissue specificity: Preferentially expressed in heart, skeletal muscle and testis. Expressed at low levels in the
    developing brain

        SABiosciences Expression via Pathway-Focused PCR Array including TUBA8: 
              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 TUBA8

    (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 animals and fungi.

    Orthologs for TUBA8 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tuba81 , 5 tubulin, alpha 81, 5 89.53(n)1
    99.33(a)1
      6 (57.15 cM)5
    538571  NM_017379.11  NP_059075.11 
     1212107345 
    chicken
    (Gallus gallus)
    Aves TUBA4A1 tubulin, alpha 4a 81.88(n)
    93.29(a)
      418166  XM_416397.1  XP_416397.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    89(a)
    89(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    5(14329014-14354199)
    5(14331231-14339438)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-199e17.11 si:ch73-199e17.1 78.72(n)
    89.51(a)
      792024  NM_001168287.1  NP_001161759.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tba-13
    tba-61
    TBA-2 tubulin alpha-2 chain3
    Protein TBA-61
    86(a)
    (best of 8)3
    66.07(n)1
    77.9(a)1
      I(9793987-9795431)3
    1727171  NM_060018.21  NP_492419.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB16
    TUB36
    Alpha-tubulin; associates with beta-tubulin (Tub2p...
    Alpha-tubulin; associates with beta-tubulin (Tub2p...
    72(a)
    71(a)
    many ↔ many
    many ↔ many
    XIII(97941-99400)
    XIII(22048-23683)


    ENSEMBL Gene Tree for TUBA8 (if available)
    TreeFam Gene Tree for TUBA8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TUBA8 gene
    TUBA3C2  TUBA4A2  TUBA1B2  TUBA1A2  TUBAL32  TUBA3E2  TUBA1C2  TUBA3D2  
    18/29 SIMAP similar genes for TUBA8 using alignment to 3 protein entries:     TBA8_HUMAN (see all proteins) (see all similar genes):
    DKFZp686L04275    TUBA1    TUBA2    TUBA3C    TUBA3D    TUBA1A
    TUBA3E    TUBA4B    TUBA4A    TUBAL3    TUBA1B    TUBA1C
    MGC16703    TUBB4A    TUBB3    TUBB2B    TUBB2A    TUBB4Q

    TUBA8 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TUBA8
    PGOHUM00000247230 PGOHUM00000237603


    (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

    10/617 SNPs in TUBA8 are shown (see all 617)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81371971,2
    C,A--2533458(+) ctcacA/Gcctgt 2 -- us2k10--------
    rs4621871,2
    C,A--2533516(+) AGTTCA/GAGACC 2 -- us2k10--------
    rs3615771,2
    C,A--2533577(+) cgggcG/Atggtg 2 -- us2k18Minor allele frequency- A:0.07NA WA CSA 14
    rs1844214991,2
    --2533584(+) GGTGGC/TGCCTG 2 -- us2k10--------
    rs4041451,2
    C,F--2533648(+) GAGGCG/AAGGTT 2 -- us2k12Minor allele frequency- A:0.25NA 4
    rs57474801,2
    C,A--2533730(+) aaaaaG/Aaaaga 2 -- us2k1 trp32Minor allele frequency- A:0.00WA CSA 3
    rs597941971,2
    C--2533733(+) AAAAA-/GA/GAA
            
    AGAAA
    4 -- us2k1 cds11NA 2
    rs1889781821,2
    --2533752(+) GATAAA/GTACTA 2 -- us2k10--------
    rs1427487071,2
    C--2533771(+) GGCGCA/GATGGC 2 -- us2k10--------
    rs1461616501,2
    --2533791(+) TAATCC/TCAGCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TUBA8 (18593097 - 18614498 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TUBA8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv914162CNV Loss21882294
    nsv914159CNV Gain21882294
    nsv469560CNV Gain16826518
    nsv914161CNV Gain21882294
    nsv471594CNV Gain+Loss15918152
    nsv428385CNV Gain+Loss18775914
    dgv1380e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): TUBA8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TUBA8
    DNA2.0 Custom Variant and Variant Library Synthesis for TUBA8

    (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: 605742   
    OMIM disorders: 613180  
    UniProtKB/Swiss-Prot: TBA8_HUMAN, Q9NY65
  • Polymicrogyria, with optic nerve hypoplasia (PMGONH) [MIM:613180]: A disease characterized by extensive
    polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent
    corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is
    irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a
    heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for TUBA8:    About MalaCards
    polymicrogyria with optic nerve hypoplasia    colpocephaly    optic nerve hypoplasia    polymicrogyria
    bipolar i disorder    distal arthrogryposis    hypotonia    parkinson's disease
    schizophrenia    breast cancer    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for TUBA8:
    Distal arthrogryposis     Bipolar I disorder

    TUBA8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): TUBA8
    Human Genome Epidemiology (HuGE) Navigator: TUBA8 (4 documents)

    Export disorders for TUBA8 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 TUBA8 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with TUBA8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TUBA8: a new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse. (PubMed id 10772959)1, 2, 3, 9 Stanchi F.... Valle G. (2000)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    3. Mutation of the variant alpha-tubulin TUBA8 results i n polymicrogyria with optic nerve hypoplasia. (PubMed id 19896110)1, 2, 9 Abdollahi M.R....Sheridan E. (2009)
    4. Tuba8 is expressed at low levels in the developing mo use and human brain. (PubMed id 20466094)1, 2 Braun A....Keays D.A. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. (PubMed id 16380905)1, 4 Fallin M.D....Pulver A.E. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. 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)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    10. 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)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51807 HGNC: 12410 AceView: PEX26andTUBA8 Ensembl:ENSG00000183785 euGenes: HUgn51807
    ECgene: TUBA8 Kegg: 51807 H-InvDB: TUBA8

    (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 TUBA8 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 TUBA8 gene:
    Search GeneIP for patents involving TUBA8

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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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