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Aliases for TUBA8 Gene

Aliases for TUBA8 Gene

  • Tubulin, Alpha 8 2 3
  • TUBAL2 3 4 6
  • Tubulin Alpha Chain-Like 2 3 4
  • Tubulin Alpha-8 Chain 3
  • Alpha-Tubulin 8 4

External Ids for TUBA8 Gene

Previous HGNC Symbols for TUBA8 Gene

  • TUBAL2

Previous GeneCards Identifiers for TUBA8 Gene

  • GC22P015533
  • GC22P016968
  • GC22P018593
  • GC22P002405

Summaries for TUBA8 Gene

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. Among its related pathways are ERK Signaling and GPCR Pathway. 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 for TUBA8 Gene

  • 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

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBA8 Gene

Genomics for TUBA8 Gene

Regulatory Elements for TUBA8 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TUBA8 Gene

18,110,331 bp from pter
18,146,554 bp from pter
36,224 bases
Plus strand

Genomic View for TUBA8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TUBA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBA8 Gene

Proteins for TUBA8 Gene

  • Protein details for TUBA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tubulin alpha-8 chain
    Protein Accession:
    Secondary Accessions:
    • B2RCX2
    • B3KPW9
    • B4DWG3
    • Q2M3N4

    Protein attributes for TUBA8 Gene

    449 amino acids
    Molecular mass:
    50094 Da
    Quaternary structure:
    • 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
    • This tubulin does not have a C-terminal tyrosine

    Alternative splice isoforms for TUBA8 Gene


neXtProt entry for TUBA8 Gene

Proteomics data for TUBA8 Gene at MOPED

Post-translational modifications for TUBA8 Gene

  • 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).
  • Ubiquitination at Lys96, Lys352, Lys370, Lys394, and Lys401
  • Glycosylation at Asn380
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBA8 Gene

No data available for DME Specific Peptides for TUBA8 Gene

Domains for TUBA8 Gene

Gene Families for TUBA8 Gene

Suggested Antigen Peptide Sequences for TUBA8 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the tubulin family.
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBA8: view

Function for TUBA8 Gene

Molecular function for TUBA8 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for TUBA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA8: view

Phenotypes for TUBA8 Gene

GenomeRNAi human phenotypes for TUBA8:
genes like me logo Genes that share phenotypes with TUBA8: view

miRNA for TUBA8 Gene

miRTarBase miRNAs that target TUBA8

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TUBA8 Gene

Localization for TUBA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA8 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

Jensen Localization Image for TUBA8 Gene COMPARTMENTS Subcellular localization image for TUBA8 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for TUBA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005874 microtubule IEA --
GO:0043234 protein complex --
genes like me logo Genes that share ontologies with TUBA8: view

Pathways for TUBA8 Gene

genes like me logo Genes that share pathways with TUBA8: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TUBA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006184 obsolete GTP catabolic process --
GO:0007017 microtubule-based process IEA --
GO:0008152 metabolic process IEA --
GO:0051258 protein polymerization IEA --
genes like me logo Genes that share ontologies with TUBA8: view

Compounds for TUBA8 Gene

(2) Drugbank Compounds for TUBA8 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Epothilone B
  • EPO 906
152044-54-7 46936553 Target experimental, investigational
Epothilone D
  • KOS-862
189453-10-9 46936246 Target experimental, investigational

(5) Tocris Compounds for TUBA8 Gene

Compound Action Cas Number
ABT 751 Inhibitor of microtubule polymerization; antimitotic and antitumor [141430-65-1]
Colchicine Inhibitor of tubulin [64-86-8]
Docetaxel Microtubule stabilizer [114977-28-5]
Harmine Potent and selective Dyrk1A inhibitor [442-51-3]
Vinblastine sulfate Disrupts microtubules [143-67-9]

(1) HMDB Compounds for TUBA8 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
genes like me logo Genes that share compounds with TUBA8: view

Transcripts for TUBA8 Gene

Unigene Clusters for TUBA8 Gene

Tubulin, alpha 8:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TUBA8

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBA8 Gene

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

Relevant External Links for TUBA8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUBA8 Gene

mRNA expression in normal human tissues for TUBA8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBA8 Gene

This gene is overexpressed in Muscle - Skeletal (5.9), Brain - Cerebellar Hemisphere (4.4), Testis (4.2), and Heart - Left Ventricle (4.2).

Protein differential expression in normal tissues for TUBA8 Gene

This gene is overexpressed in Brain (45.8) and Peripheral blood mononuclear cells (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TUBA8 Gene

SOURCE GeneReport for Unigene cluster for TUBA8 Gene Hs.137400

mRNA Expression by UniProt/SwissProt for TUBA8 Gene

Tissue specificity: Preferentially expressed in heart, skeletal muscle and testis. Expressed at low levels in the developing brain.
genes like me logo Genes that share expressions with TUBA8: view

Primer Products

In Situ Assay Products

No data available for Expression partners for TUBA8 Gene

Orthologs for TUBA8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBA8 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TUBA8 35
  • 89.9 (n)
  • 99.11 (a)
TUBA8 36
  • 99 (a)
(Canis familiaris)
Mammalia TUBA8 35
  • 92.13 (n)
  • 98.89 (a)
TUBA8 36
  • 99 (a)
(Mus musculus)
Mammalia Tuba8 35
  • 89.53 (n)
  • 99.33 (a)
Tuba8 16
Tuba8 36
  • 99 (a)
(Pan troglodytes)
Mammalia TUBA8 35
  • 99.63 (n)
  • 100 (a)
TUBA8 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tuba8 35
  • 89.53 (n)
  • 99.11 (a)
(Monodelphis domestica)
Mammalia TUBA8 36
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia TUBA8 36
  • 87 (a)
(Gallus gallus)
Aves TUBA4A 35
  • 81.89 (n)
  • 93.86 (a)
-- 36
  • 93 (a)
  • 88 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
-- 36
  • 89 (a)
-- 36
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba8 35
  • 79.04 (n)
  • 88.61 (a)
(Danio rerio)
Actinopterygii tuba8l 35
  • 79.57 (n)
  • 90.66 (a)
tuba8l 36
  • 90 (a)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub67C 37
  • 67 (a)
alphaTub84B 37
  • 92 (a)
alphaTub84D 37
  • 91 (a)
alphaTub85E 37
  • 88 (a)
CG7794 37
  • 53 (a)
(Caenorhabditis elegans)
Secernentea tba-1 37
  • 86 (a)
tba-2 37
  • 86 (a)
tba-5 37
  • 81 (a)
tba-6 37
  • 78 (a)
tba-7 37
  • 80 (a)
tba-8 37
  • 75 (a)
tba-9 37
  • 83 (a)
Y19D2B.1 37
  • 85 (a)
tba-9 36
  • 82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
  • 73 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA1 35
  • 69.04 (n)
  • 77.29 (a)
(Oryza sativa)
Liliopsida Os03g0219300 35
  • 71.23 (n)
  • 75.57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10185 36
  • 87 (a)
Species with no ortholog for TUBA8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TUBA8 Gene

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

Paralogs for TUBA8 Gene

Paralogs for TUBA8 Gene Pseudogenes for TUBA8 Gene

genes like me logo Genes that share paralogs with TUBA8: view

Variants for TUBA8 Gene

Sequence variations from dbSNP and Humsavar for TUBA8 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs361540 -- 18,118,648(+) TTTTG(A/G)GAGCA intron-variant
rs361557 -- 18,128,456(+) ACTCC(A/G)CCCAT intron-variant
rs361577 -- 18,108,841(+) cgggc(A/G)tggtg upstream-variant-2KB
rs361619 -- 18,125,534(+) AAAAA(-/A)GGAAC intron-variant
rs361695 -- 18,117,707(+) CAGGC(A/G)GAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUBA8 Gene

Variant ID Type Subtype PubMed ID
nsv428385 CNV Gain+Loss 18775914
nsv914159 CNV Gain 21882294
dgv1380e1 CNV Complex 17122850
nsv469560 CNV Gain 16826518
nsv471594 CNV Gain+Loss 15918152
nsv914161 CNV Gain 21882294
nsv914162 CNV Loss 21882294

Relevant External Links for TUBA8 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBA8 Gene

Disorders for TUBA8 Gene

(1) OMIM Diseases for TUBA8 Gene (605742)


  • 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. {ECO:0000269 PubMed:19896110}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TUBA8 Gene

Relevant External Links for TUBA8

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TUBA8: view

No data available for Novoseek inferred disease relationships and Genatlas for TUBA8 Gene

Publications for TUBA8 Gene

  1. TUBA8: a new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse. (PMID: 10772959) Stanchi F. … Valle G. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23
  2. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (PMID: 19896110) Abdollahi M.R. … Sheridan E. (Am. J. Hum. Genet. 2009) 3 4 23
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TUBA8 Gene

Sources for TUBA8 Gene

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