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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 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 Optic Nerve Hypoplasia. Among its related pathways are Development Slit-Robo signaling and EphB-EphrinB Signaling. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA1A.

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

Enhancers for TUBA8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F018055 1.6 FANTOM5 Ensembl ENCODE 11.1 -52.7 -52738 4.3 PKNOX1 ATF1 ARID4B SIN3A FEZF1 BRCA1 ZNF143 FOS SP3 JUNB DGCR11 MICAL3 PEX26 ENSG00000225335 ENSG00000236890 ENSG00000093100 TUBA8 BID LOC105372853 GC22P018073
GH22F018075 1.1 ENCODE 11.8 -32.5 -32466 4.4 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 ZHX2 TUBA8 MICAL3 ENSG00000093100 USP18 BID E2F6P1 GC22M018075 GC22P018073
GH22F018060 1.1 Ensembl ENCODE 11.2 -48.2 -48221 3.8 TBP PKNOX1 ARID4B RARA YY1 ZNF366 EGR2 THAP11 TBX21 PPARG MICAL3 ENSG00000093100 TUBA8 USP18 BID LOC105372853 GC22P018073
GH22F018149 1 ENCODE 6.4 +40.0 40001 2.6 ATF1 DMAP1 ZNF48 YY1 SP3 YY2 SP5 SMARCA4 GLIS1 MXD3 TUBA8 USP18 LOC105372858
GH22F018156 1 Ensembl ENCODE 5.5 +47.4 47407 2.6 TBP DRAP1 CTCF PKNOX1 RAD21 ZNF316 POLR2A SCRT2 NFYB ZNF143 TUBA8 USP18 LOC105372858
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TUBA8 on UCSC Golden Path with GeneCards custom track

Promoters for TUBA8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001841806 569 1001 CTCF MAX EBF1 ZIC2 E2F1 ZFHX2 GLIS2 POLR2A PATZ1 EGR2
ENSR00000169254 1469 400 BCOR IKZF1 ZMYM3 SPI1

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

Post-translational modifications for TUBA8 Gene

  • Some glutamate residues at the C-terminus are 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). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • 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: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
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TUBA8: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBA8: view

Drugs & Compounds for TUBA8 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Antagonist Tubulin Inhibitor, Inhibitor of tubulin 111
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1918
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
Dolastatin 10 trifluoroacetate
MMAE
474645-27-7

(5) Tocris Compounds for TUBA8 Gene

Compound Action Cas Number
Colchicine Inhibitor of tubulin 64-86-8
Docetaxel Microtubule stabilizer 114977-28-5
Dolastatin 10 trifluoroacetate Tubulin polymerization inhibitor
MMAE Potent dolastatin 10 analog; antitumor 474645-27-7
Vinblastine sulfate Disrupts microtubules 143-67-9
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:

Inhibitory RNA Products

Clone Products

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: -
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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TUBA8 Gene



NURSA nuclear receptor signaling pathways regulating expression of TUBA8 Gene:

TUBA8

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

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
chimpanzee
(Pan troglodytes)
Mammalia TUBA8 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia TUBA8 34 35
  • 92.13 (n)
cow
(Bos Taurus)
Mammalia TUBA8 34 35
  • 89.9 (n)
mouse
(Mus musculus)
Mammalia Tuba8 34 16 35
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Tuba8 34
  • 89.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TUBA8 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBA8 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 93 (a)
OneToMany
TUBAT 35
  • 88 (a)
OneToMany
TUBA4A 34
  • 81.89 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 95 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tuba8 34
  • 79.04 (n)
zebrafish
(Danio rerio)
Actinopterygii tuba8l 34 35
  • 79.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta alphaTub84B 36
  • 92 (a)
alphaTub84D 36
  • 91 (a)
alphaTub85E 36
  • 88 (a)
alphaTub67C 36
  • 67 (a)
CG7794 36
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea tba-1 36
  • 86 (a)
tba-2 36
  • 86 (a)
Y19D2B.1 36
  • 85 (a)
tba-9 36 35
  • 83 (a)
tba-5 36
  • 81 (a)
tba-7 36
  • 80 (a)
tba-6 36
  • 78 (a)
tba-8 36
  • 75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB1 35
  • 73 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons TUA1 34
  • 69.04 (n)
rice
(Oryza sativa)
Liliopsida Os03g0219300 34
  • 71.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10185 35
  • 87 (a)
ManyToMany
Species where no ortholog for TUBA8 was found in the sources mined by GeneCards:
  • 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
rs878853254 Pathogenic 18,121,458(+) ACCTC(-/GTTGCTTCCCTCTC)CCCAC intron-variant
rs115847686 Likely benign 18,124,179(+) CCTAC(C/T)GCCAG reference, missense
rs145407514 Likely benign 18,130,866(+) CCCCC(A/G)ACCGT reference, synonymous-codon
rs2234327 Likely benign 18,124,253(+) CACTA(C/T)ACGGT reference, synonymous-codon
rs2234332 Likely benign 18,126,794(+) ACCTA(A/C/T)GCGCC reference, synonymous-codon, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv471594 CNV gain+loss 15918152
nsv469560 CNV gain 16826518
nsv428385 CNV gain+loss 18775914
nsv1058565 CNV gain 25217958
nsv1057188 CNV gain 25217958
nsv1055756 CNV gain 25217958
esv3893430 CNV gain 25118596
esv3647241 CNV loss 21293372
esv3575411 CNV gain 25503493
esv2758824 CNV gain+loss 17122850

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

Human Gene Mutation Database (HGMD)
TUBA8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBA8

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

Disorders for TUBA8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
polymicrogyria with optic nerve hypoplasia
  • cortical dysplasia, complex, with other brain malformations 8
optic nerve hypoplasia
  • optic nerve hypoplasia, bilateral optic nerve aplasia, bilateral, included
polymicrogyria
  • pmg
colpocephaly
chromosomal duplication syndrome
- 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
  • Cortical dysplasia, complex, with other brain malformations 8 (CDCBM8) [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 22 64
  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 22 64
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 2 3 4 64
  4. Tuba8 is expressed at low levels in the developing mouse and human brain. (PMID: 20466094) Braun A. … Keays D.A. (Am. J. Hum. Genet. 2010) 3 4 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for TUBA8 Gene

Sources for TUBA8 Gene

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