TUBA8 Gene (Protein Coding)

Tubulin Alpha 8

GC22P018110
GIFtS:
45
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] See more...

Aliases for TUBA8 Gene

Aliases for TUBA8 Gene

  • Tubulin Alpha 8 2 3 5
  • Tubulin Alpha Chain-Like 2 3 4
  • Tubulin Alpha-8 Chain 3 4
  • TUBAL2 3 4
  • Alpha-Tubulin 8 4
  • CDCBM8 3
  • TUBA8 5

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 Cortical Dysplasia, Complex, With Other Brain Malformations 8 and Polymicrogyria. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBA3D.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for TUBA8 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBA8 Gene

Genomics for TUBA8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TUBA8 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH22J018109 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.5 451 2.2 HNRNPL PRDM10 ZIC2 PATZ1 IKZF2 EZH2 EED ZSCAN29 DPF2 RELB RF00017-3749 TUBA8 lnc-MICAL3-6 ENSG00000280007 PEX26 USP18
GH22J018112 Promoter/Enhancer 0.8 Ensembl dbSUPER 600.7 +1.8 1769 0.2 IKZF1 ZNF768 TBX21 BHLHE40 ZMYM3 TUBA8 lnc-MICAL3-6 ENSG00000280007 PEX26 USP18
GH22J018126 Promoter/Enhancer 0.6 EPDnew Ensembl 600.4 +15.3 15270 2 SPI1 TUBA8 PEX26 ENSG00000236890 ENSG00000225335 MICAL3 ENSG00000093100 ENSG00000280007 lnc-MICAL3-6 USP18
GH22J018127 Promoter 0.3 EPDnew 600.4 +16.4 16406 0.1 TUBA8 PEX26 ENSG00000225335 ENSG00000236890 MICAL3 ENSG00000093100 ENSG00000280007 lnc-MICAL3-6 USP18
GH22J018075 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -32.5 -32465 4.4 HNRNPL GATAD2A CTCF PRDM10 ZNF629 SIX5 IKZF1 KDM1A POLR2A FOXA1 ENSG00000225335 PEX26 TUBA8 MICAL3 ENSG00000093100 USP18 BID lnc-PEX26-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBA8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBA8

Top Transcription factor binding sites by QIAGEN in the TUBA8 gene promoter:
  • AML1a
  • FOXJ2 (long isoform)
  • GATA-1
  • GATA-2
  • GATA-3
  • HEN1
  • p53
  • POU3F2
  • S8

Genomic Locations for TUBA8 Gene

Genomic Locations for TUBA8 Gene
chr22:18,110,331-18,146,554
(GRCh38/hg38)
Size:
36,224 bases
Orientation:
Plus strand
chr22:18,593,097-18,629,321
(GRCh37/hg19)
Size:
36,225 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 Structure • Gene Density

RefSeq DNA sequence for TUBA8 Gene

Proteins for TUBA8 Gene

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  • 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

Protein Expression for TUBA8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for TUBA8 Gene

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

Other Protein References for TUBA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBA8 Gene

Domains & Families for TUBA8 Gene

Gene Families for TUBA8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TUBA8 Gene

InterPro:
Blocks:
  • Alpha tubulin signature
ProtoNet:

Suggested Antigen Peptide Sequences for TUBA8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32385 fis, clone SKMUS1000110, highly similar to Tubulin alpha-8 chain (B3KPW9_HUMAN)
  • Tubulin alpha chain-like 2 (TBA8_HUMAN)

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

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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.

Phenotypes From GWAS Catalog for TUBA8 Gene

Gene Ontology (GO) - Molecular Function for TUBA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA,IBA 21873635
GO:0005525 GTP binding IEA,IBA 21873635
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 Models for TUBA8 Gene

MGI Knock Outs for TUBA8:

Animal Model Products

CRISPR Products

miRNA for TUBA8 Gene

miRTarBase miRNAs that target TUBA8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA8

No data available for Enzyme Numbers (IUBMB) , 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 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUBA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IBA 21873635
GO:0015630 microtubule cytoskeleton IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TUBA8: view

Pathways & Interactions for TUBA8 Gene

PathCards logo

SuperPathways for TUBA8 Gene

SuperPathway Contained pathways
1 Development Slit-Robo signaling
Development Slit-Robo signaling
.44
Neurophysiological process Receptor-mediated axon growth repulsion
.44
Pathogenic Escherichia coli infection
.43
Cell adhesion Gap junctions
.30
2 Parkinson disease
Huntington disease
.46
Parkinson disease
.46
Alzheimer disease
.45
3 Sertoli-Sertoli Cell Junction Dynamics
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
4 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
.85
Formation of tubulin folding intermediates by CCT/TriC
.76
Post-chaperonin tubulin folding pathway
.53
5 G-Beta Gamma Signaling
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
genes like me logo Genes that share pathways with TUBA8: view

Pathways by source for TUBA8 Gene

10 GeneGo (Thomson Reuters) pathways for TUBA8 Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
11 Qiagen pathways for TUBA8 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics

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:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA,IBA 21873635
genes like me logo Genes that share ontologies with TUBA8: view

Drugs & Compounds for TUBA8 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Patupilone Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
Epothilone D Investigational Pharma Target 0
MPC 6827 hydrochloride Pharma Potent microtubule inhibitor, Inhibitor of microtubule polymerization; antimitotic and antitumor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
Agonist 33069-62-4

(5) Tocris Compounds for TUBA8 Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
genes like me logo Genes that share compounds with TUBA8: view

Transcripts for TUBA8 Gene

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mRNA/cDNA for TUBA8 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBA8

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

Expression for TUBA8 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBA8 Gene

mRNA expression in normal human tissues for TUBA8 Gene
mRNA expression by BioGPS for TUBA8 GenemRNA expression by GTEx 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, MaxQB, and MOPED for TUBA8 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for TUBA8 Gene

  • Nervous system(4.6)
  • Muscle(4.6)
  • Heart(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBA8 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
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 30 31
  • 99.63 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TUBA8 30 31
  • 92.13 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TUBA8 30 31
  • 89.9 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tuba8 30 17 31
  • 89.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tuba8 30
  • 89.53 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia TUBA8 31
  • 87 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia TUBA8 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 93 (a)
 OneToMany
TUBAT 31
  • 88 (a)
 OneToMany
TUBA4A 30
  • 81.89 (n)
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 95 (a)
 OneToMany
-- 31
  • 89 (a)
 OneToMany
-- 31
  • 89 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tuba8 30
  • 79.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii tuba8l 30 31
  • 79.57 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta alphaTub84B 32
  • 92 (a)
alphaTub84D 32
  • 91 (a)
alphaTub85E 32
  • 88 (a)
alphaTub67C 32
  • 67 (a)
CG7794 32
  • 53 (a)
Worm
(Caenorhabditis elegans)
 Secernentea tba-1 32
  • 86 (a)
tba-2 32
  • 86 (a)
Y19D2B.1 32
  • 85 (a)
tba-9 31 32
  • 82 (a)
 ManyToMany
tba-5 32
  • 81 (a)
tba-7 32
  • 80 (a)
tba-6 32
  • 78 (a)
tba-8 32
  • 75 (a)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes TUB1 31
  • 73 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons TUA1 30
  • 69.04 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0219300 30
  • 71.23 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10185 31
  • 87 (a)
 ManyToMany
Species where no ortholog for TUBA8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TUBA8: view image

Paralogs for TUBA8 Gene

Paralogs for TUBA8 Gene

(29) SIMAP similar genes for TUBA8 Gene using alignment to 4 proteins:

  • TBA8_HUMAN
  • C9J2C0_HUMAN
  • C9K0S6_HUMAN
  • V9GZ17_HUMAN

Pseudogenes.org Pseudogenes for TUBA8 Gene

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

Variants for TUBA8 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBA8 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
668443 Likely Benign: not provided 18,126,782(+) G/T SYNONYMOUS_VARIANT
670257 Benign: not provided 18,127,087(+) G/A INTRON_VARIANT
674610 Benign: not provided 18,126,279(+) G/A INTRON_VARIANT
746962 Likely Benign: not provided 18,126,713(+) C/T SYNONYMOUS_VARIANT
799741 Benign: not provided 18,130,959(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TUBA8 Gene

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

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

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)

Additional Variant Information for TUBA8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TUBA8 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 8
  • cdcbm8
polymicrogyria
  • pmg
colpocephaly
tubulinopathies
  • tubulin-related cortical dysgenesis
band heterotopia
  • bh
- 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.

Additional Disease Information for TUBA8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (Biochemical and biophysical research communications 2000) 2 3 4 23
  2. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (PMID: 19896110) Abdollahi MR … Sheridan E (American journal of human genetics 2009) 3 4 23
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4
  4. 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 SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Tuba8 is expressed at low levels in the developing mouse and human brain. (PMID: 20466094) Braun A … Keays DA (American journal of human genetics 2010) 3 4

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