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TUBA8 Gene

protein-coding   GIFtS: 68
GCID: GC22P018593

Tubulin, Alpha 8


(Previous symbol: TUBAL2)
  See TUBA8-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 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 optic nerve hypoplasia. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_187355.1  
Regulatory elements:
   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 Chromatin IP Primers for TUBA8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
18,629,321 bp from pter
Size:
36,225 bases      Orientation:
plus 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: 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. 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
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: 

  • 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 Lys96, Lys352, Lys370, Lys394, Lys401
  • Glycosylation2 at Asn380
  • Modification sites at PhosphoSitePlus

  • See TUBA8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000407624   ENSP00000318575   ENSP00000333326   ENSP00000412646   ENSP00000477306  

    TUBA8 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for TUBA8 (7 products) 

     
    antibodies-online peptides for TUBA8

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    Search eBioscience for ELISAs for TUBA8 
    antibodies-online kits for TUBA8 (8 products) 


    (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 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


    Find genes that share domains with TUBA8           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003924GTPase activity IEA--
    GO:0005200structural constituent of cytoskeleton IEA--
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with TUBA8           About GenesLikeMe


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

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TUBA8

    miRNA
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    miRTarBase miRNAs that target TUBA8:
    hsa-mir-148b-3p (MIRT019370), hsa-mir-335-5p (MIRT018195)

    Block miRNA regulation of human, mouse, rat TUBA8 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate TUBA8:
    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
    Inhib. RNA
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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
    TBA8_HUMAN, Q9NY65: Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with TUBA8           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 TUBA8 About   (see all 18)  
    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
    4Signaling in Gap Junctions
    Gap junction0.31
    Signaling in Gap Junctions0.31
    5Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    Germ Cell-Sertoli Cell Junction Dynamics0.38


    Find genes that share SuperPaths with TUBA8           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBA8: 
              Gap Junctions in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TUBA8

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

    Selected Interacting proteins for TUBA8 (Q9NY652, 3 ENSP000003333264) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    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:    About this table

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

    Find genes that share ontologies with TUBA8           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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



    (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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426208 ENST00000316027 ENST00000330423(uc002znv.2 uc021wkt.1 uc002znw.1)
    ENST00000416740 ENST00000608634
    miRNA
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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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    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 

    Selected AceView cDNA sequences (see all 181):

    F35549 AW263176 BI917830 AI869536 BU170001 BQ100690 H55532 BM700432 
    BF059267 CA433269 F36680 BC074827 BM511724 AB089678 BE855649 BE326971 
    CR456600 CA433324 F30278 C21355 CB153452 AL704505 CR621131 BF195571 

    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™, 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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    TUBA8 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Blood (Cardiovascular 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
    TUBA8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TUBA8 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including TUBA8: 
              Gap Junctions in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

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

    Orthologs for TUBA8 gene from Selected species (see all 17)    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 81.89(n)
    93.86(a)
      418166  XM_416397.2  XP_416397.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    95(a)
    89(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    4(133757991-133759797)
    5(14329014-14354199)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tuba81 tubulin, alpha 8 79.04(n)
    88.61(a)
      100037894  NM_001097330.1  NP_001090799.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tuba8l1 tubulin, alpha 8 like 79.57(n)
    90.66(a)
      337223  NM_212772.1  NP_997937.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tba-13 TBA-2 tubulin alpha-2 chain 86(a)
    (best of 8)
      I(9793987-9795431)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TUB16
    Alpha-tubulin; associates with beta-tubulin (Tub2p...
    73(a)
    1 → many
    XIII(97941-99400) YML085C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TUA11 TUA1 69.04(n)
    77.29(a)
      842782  NM_105148.3  NP_176654.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02193001 Os03g0219300 71.23(n)
    75.57(a)
      4332083  NM_001055935.1  NP_001049400.1 


    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)
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    Paralogs for TUBA8 gene
    TUBA3C2  TUBA4A2  TUBA1B2  TUBA1A2  TUBA3E2  TUBA1C2  TUBA3D2  
    Selected SIMAP similar genes for TUBA8 using alignment to 4 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

    Find genes that share paralogs with TUBA8           About GenesLikeMe


    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), 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 TUBA8 (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 - 18629321 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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 4 diseases for TUBA8:    
    About MalaCards
    polymicrogyria with optic nerve hypoplasia    optic nerve hypoplasia    cytochrome p450 oxidoreductase deficiency    bipolar i disorder

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

    Find genes that share disorders with TUBA8           About GenesLikeMe

    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)
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    PubMed articles for TUBA8 gene, integrated from 10 sources (see all 48):
    (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. (Biochem. Biophys. Res. Commun. 2000)
    2. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I.... Wright H. (Nature 1999)
    3. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (PubMed id 19896110)1, 2, 9 Abdollahi M.R....Sheridan E. (Am. J. Hum. Genet. 2009)
    4. Tuba8 is expressed at low levels in the developing mouse and human brain. (PubMed id 20466094)1, 2 Braun A.... Keays D.A. (Am. J. Hum. Genet. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Am. J. Hum. Genet. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 2004)
    9. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    10. 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)

    (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: 51807 HGNC: 12410 AceView: PEX26andTUBA8 Ensembl:ENSG00000183785 euGenes: HUgn51807
    ECgene: TUBA8 Kegg: 51807 H-InvDB: TUBA8

    (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 TUBA8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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