Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TUBA8 Gene

Aliases for TUBA8 Gene

  • Tubulin Alpha 8 2 3 5
  • Tubulin Alpha Chain-Like 2 3 4
  • TUBAL2 3 4
  • Tubulin, Alpha 8 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 optic nerve hypoplasia. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA4B.

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 (+).

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

Promoters for TUBA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TUBA8 on UCSC Golden Path with GeneCards custom track

Genomic Location for TUBA8 Gene

Chromosome:
22
Start:
18,110,331 bp from pter
End:
18,146,554 bp from pter
Size:
36,224 bases
Orientation:
Plus strand

Genomic View for TUBA8 Gene

Genes around TUBA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9NY65-TBA8_HUMAN
    Recommended name:
    Tubulin alpha-8 chain
    Protein Accession:
    Q9NY65
    Secondary Accessions:
    • B2RCX2
    • B3KPW9
    • B4DWG3
    • Q2M3N4

    Protein attributes for TUBA8 Gene

    Size:
    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.
    Miscellaneous:
    • This tubulin does not have a C-terminal tyrosine.

    Alternative splice isoforms for TUBA8 Gene

    UniProtKB/Swiss-Prot:

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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBA8 Gene

No data available for DME Specific Peptides for TUBA8 Gene

Domains & Families for TUBA8 Gene

Gene Families for TUBA8 Gene

Suggested Antigen Peptide Sequences for TUBA8 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NY65

UniProtKB/Swiss-Prot:

TBA8_HUMAN :
  • Belongs to the tubulin family.
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:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBA8: view
genes like me logo Genes that share phenotypes with TUBA8: view

Human Phenotype Ontology for TUBA8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TUBA8 Gene

miRTarBase miRNAs that target TUBA8

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

Localization for TUBA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBA8 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components for TUBA8 Gene

Pathways & Interactions for TUBA8 Gene

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

SIGNOR curated interactions for TUBA8 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TUBA8 Gene

None

Drugs & Compounds for TUBA8 Gene

(6) Drugs for TUBA8 Gene - From: DrugBank, Tocris, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 104
Taxol Approved August 1997 Pharma Agonist Promotes assembly and inhibits disassembly of microtubules 0
Epothilone B Experimental, Investigational Pharma Target 67
Epothilone D Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for TUBA8 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Vinblastine sulfate
143-67-9
Vincristine sulfate
2068-78-2

(5) Tocris Compounds for TUBA8 Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Nocodazole Microtubule inhibitor 31430-18-9
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
Vincristine sulfate Disrupts microtubules 2068-78-2
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:

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

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

Relevant External Links for TUBA8 Gene

GeneLoc Exon Structure for
TUBA8
ECgene alternative splicing isoforms for
TUBA8

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 (x5.9), Brain - Cerebellar Hemisphere (x4.4), Testis (x4.2), and Heart - Left Ventricle (x4.2).

Protein differential expression in normal tissues from HIPED for TUBA8 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q9NY65-TBA8_HUMAN
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 expression patterns with TUBA8: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-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
cow
(Bos Taurus)
Mammalia TUBA8 35
  • 89.9 (n)
  • 99.11 (a)
TUBA8 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBA8 35
  • 92.13 (n)
  • 98.89 (a)
TUBA8 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tuba8 35
  • 89.53 (n)
  • 99.33 (a)
Tuba8 16
Tuba8 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBA8 35
  • 99.63 (n)
  • 100 (a)
TUBA8 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tuba8 35
  • 89.53 (n)
  • 99.11 (a)
oppossum
(Monodelphis domestica)
Mammalia TUBA8 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBA8 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves TUBA4A 35
  • 81.89 (n)
  • 93.86 (a)
-- 36
  • 93 (a)
OneToMany
TUBAT 36
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 95 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba8 35
  • 79.04 (n)
  • 88.61 (a)
zebrafish
(Danio rerio)
Actinopterygii tuba8l 35
  • 79.57 (n)
  • 90.66 (a)
tuba8l 36
  • 90 (a)
OneToOne
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)
worm
(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)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 36
  • 73 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA1 35
  • 69.04 (n)
  • 77.29 (a)
rice
(Oryza sativa)
Liliopsida Os03g0219300 35
  • 71.23 (n)
  • 75.57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10185 36
  • 87 (a)
ManyToMany
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

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

Paralogs for TUBA8 Gene

Paralogs for TUBA8 Gene

Pseudogenes.org 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
rs2234333 - 18,126,880(+) CAGCC(A/G)GATGG reference, missense
rs2234331 - 18,126,361(+) AGATG(C/T)TTGCT reference, missense
rs425889 -- 18,109,125(+) gtgaa(A/G)ccccg upstream-variant-2KB
rs426104 -- 18,109,217(+) gaatc(A/G)cttga upstream-variant-2KB
rs361540 -- 18,118,648(+) TTTTG(A/G)GAGCA 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

Variation tolerance for TUBA8 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBA8 Gene

HapMap Linkage Disequilibrium report
TUBA8
Human Gene Mutation Database (HGMD)
TUBA8

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

Disorders for TUBA8 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TUBA8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria with optic nerve hypoplasia
  • polymicrogyria, with optic nerve hypoplasia
optic nerve hypoplasia
  • bilateral optic nerve hypoplasia
colpocephaly
chromosomal duplication syndrome
polymicrogyria
  • pmg
- elite association - COSMIC cancer census association via MalaCards
Search TUBA8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBA8_HUMAN
  • 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.

Relevant External Links for TUBA8

Genetic Association Database (GAD)
TUBA8
Human Genome Epidemiology (HuGE) Navigator
TUBA8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBA8
genes like me logo Genes that share disorders with TUBA8: view

No data available for 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 67
  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 23
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. (PMID: 26460568) Johnson-Kerner B.L. … Wichterle H. (PLoS ONE 2015) 3

Products for TUBA8 Gene

Sources for TUBA8 Gene

Back to Top

Content