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Aliases for TUBB4A Gene

Aliases for TUBB4A Gene

  • Tubulin Beta 4A Class IVa 2 3 5
  • Dystonia 4, Torsion (Autosomal Dominant) 2 3
  • Tubulin Beta-4 Chain 3 4
  • Tubulin, Beta 4 2 3
  • TUBB4 3 4
  • Tubulin, Beta 4 Class IVa 2
  • Class IVa Beta-Tubulin 2
  • Tubulin Beta-4A Chain 3
  • Tubulin, Beta, 5 3
  • Tubulin 5 Beta 4
  • Beta-5 3
  • TUBB5 4
  • DYT4 3

External Ids for TUBB4A Gene

Previous HGNC Symbols for TUBB4A Gene

  • TUBB4
  • DYT4

Summaries for TUBB4A Gene

Entrez Gene Summary for TUBB4A Gene

  • This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

GeneCards Summary for TUBB4A Gene

TUBB4A (Tubulin Beta 4A Class IVa) is a Protein Coding gene. Diseases associated with TUBB4A include Leukodystrophy, Hypomyelinating, 6 and Dystonia 4, Torsion, Autosomal Dominant. Among its related pathways are Development Slit-Robo signaling and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB4B.

UniProtKB/Swiss-Prot for TUBB4A 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.

Gene Wiki entry for TUBB4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUBB4A Gene

Genomics for TUBB4A Gene

Regulatory Elements for TUBB4A Gene

Enhancers for TUBB4A 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TUBB4A on UCSC Golden Path with GeneCards custom track

Promoters for TUBB4A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TUBB4A Gene

Chromosome:
19
Start:
6,494,319 bp from pter
End:
6,502,848 bp from pter
Size:
8,530 bases
Orientation:
Minus strand

Genomic View for TUBB4A Gene

Genes around TUBB4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB4A Gene

Proteins for TUBB4A Gene

  • Protein details for TUBB4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04350-TBB4A_HUMAN
    Recommended name:
    Tubulin beta-4A chain
    Protein Accession:
    P04350
    Secondary Accessions:
    • B3KQP4
    • Q969E5

    Protein attributes for TUBB4A Gene

    Size:
    444 amino acids
    Molecular mass:
    49586 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.

neXtProt entry for TUBB4A Gene

Post-translational modifications for TUBB4A 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

No data available for DME Specific Peptides for TUBB4A Gene

Domains & Families for TUBB4A Gene

Gene Families for TUBB4A Gene

Graphical View of Domain Structure for InterPro Entry

P04350

UniProtKB/Swiss-Prot:

TBB4A_HUMAN :
  • The highly acidic C-terminal region may bind cations such as calcium.
  • Belongs to the tubulin family.
Domain:
  • The highly acidic C-terminal region may bind cations such as calcium.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB4A: view

Function for TUBB4A Gene

Molecular function for TUBB4A 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 TUBB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005515 protein binding IPI 20195357
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with TUBB4A: view
genes like me logo Genes that share phenotypes with TUBB4A: view

Human Phenotype Ontology for TUBB4A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB4A Gene

Localization for TUBB4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB4A Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUBB4A Gene COMPARTMENTS Subcellular localization image for TUBB4A gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
plasma membrane 3
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TUBB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005874 microtubule IDA 21525035
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with TUBB4A: view

Pathways & Interactions for TUBB4A Gene

genes like me logo Genes that share pathways with TUBB4A: view

SIGNOR curated interactions for TUBB4A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA --
genes like me logo Genes that share ontologies with TUBB4A: view

Drugs & Compounds for TUBB4A Gene

(9) Drugs for TUBB4A 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 106
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1880
Epothilone B Experimental, Investigational Pharma Target 67
Epothilone D Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for TUBB4A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolastatin 10 trifluoroacetate
MMAE
474645-27-7

(5) Tocris Compounds for TUBB4A 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 TUBB4A: view

Transcripts for TUBB4A Gene

Unigene Clusters for TUBB4A Gene

Tubulin, beta 4A class IVa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB4A Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - -
SP8: -
SP9: - -
SP10:

Relevant External Links for TUBB4A Gene

GeneLoc Exon Structure for
TUBB4A
ECgene alternative splicing isoforms for
TUBB4A

Expression for TUBB4A Gene

mRNA expression in normal human tissues for TUBB4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB4A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.4), Brain - Cerebellum (x6.2), and Brain - Spinal cord (cervical c-1) (x4.4).

Protein differential expression in normal tissues from HIPED for TUBB4A Gene

This gene is overexpressed in Frontal cortex (20.6), Spinal cord (8.4), and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUBB4A Gene



Protein tissue co-expression partners for TUBB4A Gene

NURSA nuclear receptor signaling pathways regulating expression of TUBB4A Gene:

TUBB4A

SOURCE GeneReport for Unigene cluster for TUBB4A Gene:

Hs.110837

mRNA Expression by UniProt/SwissProt for TUBB4A Gene:

P04350-TBB4A_HUMAN
Tissue specificity: Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues.
genes like me logo Genes that share expression patterns with TUBB4A: view

Primer Products

Orthologs for TUBB4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB4A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUBB4A 34
  • 92.27 (n)
  • 100 (a)
TUBB4A 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB4A 34
  • 93.84 (n)
  • 100 (a)
TUBB4A 35
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tubb4a 34
  • 87.84 (n)
  • 100 (a)
Tubb4a 16
Tubb4a 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TUBB4 34
  • 98.98 (n)
  • 99.18 (a)
TUBB4A 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb4a 34
  • 87.76 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 89 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 98 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii wu:fj41e11 34
  • 83.84 (n)
  • 97.66 (a)
zgc:123194 35
  • 97 (a)
ManyToMany
zgc:55461 35
  • 98 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010510 34
  • 80.41 (n)
  • 91.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta betaTub60D 34
  • 84.47 (n)
  • 91.57 (a)
betaTub56D 35
  • 90 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB9 34
  • 69.32 (n)
  • 85.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4227 35
  • 96 (a)
ManyToMany
CSA.7878 35
  • 97 (a)
ManyToMany
Species where no ortholog for TUBB4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TUBB4A Gene

ENSEMBL:
Gene Tree for TUBB4A (if available)
TreeFam:
Gene Tree for TUBB4A (if available)

Paralogs for TUBB4A Gene

Paralogs for TUBB4A Gene

Pseudogenes.org Pseudogenes for TUBB4A Gene

genes like me logo Genes that share paralogs with TUBB4A: view

Variants for TUBB4A Gene

Sequence variations from dbSNP and Humsavar for TUBB4A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1053267 - 6,495,405(-) GGCCG(C/T)GACCT reference, missense
rs1053262 - 6,496,034(-) AAGAT(C/G)CGCGA reference, missense
rs587776983 Dystonia 4, torsion, autosomal dominant (DYT4) 6,502,209(+) CTCCC(C/G/T)CATGG reference, synonymous-codon, missense, utr-variant-5-prime
rs483352809 Leukodystrophy, hypomyelinating, 6 (HLD) 6,495,754(-) ACGCC(A/G)ACCTG reference, missense
rs3099128 -- 6,499,106(+) GATCA(C/T)CTGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUBB4A Gene

Variant ID Type Subtype PubMed ID
nsv833727 CNV loss 17160897
nsv833728 CNV loss 17160897
nsv962996 CNV duplication 23825009

Variation tolerance for TUBB4A Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUBB4A Gene

Human Gene Mutation Database (HGMD)
TUBB4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB4A Gene

Disorders for TUBB4A Gene

MalaCards: The human disease database

(8) MalaCards diseases for TUBB4A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 6
  • leukodystrophy, hypomyelinating 6
dystonia 4, torsion, autosomal dominant
  • autosomal dominant torsion dystonia-4
fibrosis of extraocular muscles, congenital, 3a
  • congenital fibrosis of the extraocular muscles 3a
cortical dysplasia, complex, with other brain malformations 1
  • cortical dysgenesis with pontocerebellar hypoplasia due to tubb3 mutation
dystonia 4
  • dystonia 4, torsion, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBB4A_HUMAN
  • Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101]: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Torsion refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait. {ECO:0000269 PubMed:23424103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukodystrophy, hypomyelinating, 6 (HLD) [MIM:612438]: A neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. {ECO:0000269 PubMed:23582646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TUBB4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUBB4A
genes like me logo Genes that share disorders with TUBB4A: view

No data available for Genatlas for TUBB4A Gene

Publications for TUBB4A Gene

  1. Sequence of an expressed human beta-tubulin gene containing ten Alu family members. (PMID: 6462917) Lee M.G.-S. … Cowan N.J. (Nucleic Acids Res. 1984) 2 3 4 65
  2. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. (PMID: 23595291) Lohmann K. … Klein C. (Ann. Neurol. 2013) 2 3 65
  3. Mutations in the autoregulatory domain of beta-tubulin 4a cause hereditary dystonia. (PMID: 23424103) Hersheson J. … Houlden H. (Ann. Neurol. 2013) 3 4 65
  4. A de novo mutation in the I^-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. (PMID: 23582646) Simons C. … Vanderver A. (Am. J. Hum. Genet. 2013) 3 4 65
  5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 4 65

Products for TUBB4A Gene

Sources for TUBB4A Gene

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