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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 Dystonia 4, Torsion, Autosomal Dominant and Leukodystrophy, Hypomyelinating, 6. Among its related pathways are Development Slit-Robo signaling and Organelle biogenesis and maintenance. Gene Ontology (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

Additional gene information for TUBB4A Gene

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

Genomics for TUBB4A Gene

GeneHancer (GH) Regulatory Elements for TUBB4A Gene

Promoters and enhancers for TUBB4A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I006500 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.8 839 2 ATF1 RB1 KLF17 ZNF335 GLIS2 ZNF213 KLF7 CREM EGR2 SP3 TUBB4A SLC25A41 ENSG00000268203 ENSG00000268191
GH19I006473 Enhancer 0.3 ENCODE 5.4 +28.9 28949 0.8 ADNP TUBB4A SLC25A23 ENSG00000275234 DENND1C
GH19I006504 Enhancer 1.3 Ensembl ENCODE dbSUPER 0.8 -2.0 -2041 0.6 HDGF FOXA2 ZNF2 IRF4 ZNF121 ZNF143 ATF7 RUNX3 SP3 SP5 ZNF557 DUS3L KHSRP SAFB RANBP3 ENSG00000267571 SLC25A41 TUBB4A TNFSF9
GH19I006498 Enhancer 0.8 ENCODE dbSUPER 0.8 +3.9 3942 0.8 SMARCA5 BCOR CEBPB ZMYM3 ZNF623 ATF4 PHF20 HDAC2 VEZF1 ADNP ENSG00000268191 ENSG00000268203 TUBB4A
GH19I006515 Enhancer 1.4 Ensembl ENCODE dbSUPER 0.4 -13.8 -13787 2 HDGF PKNOX1 ARID4B SIN3A ZNF2 IRF4 POLR2B E2F8 ZNF207 ZNF143 KHSRP SNRPEP4 DUS3L ENSG00000267571 ZNF557 VMAC GPR108 SAFB2 RANBP3 SAFB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TUBB4A on UCSC Golden Path with GeneCards custom track

Genomic Locations for TUBB4A Gene

Genomic Locations for TUBB4A Gene
8,530 bases
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:
    Recommended name:
    Tubulin beta-4A chain
    Protein Accession:
    Secondary Accessions:
    • B3KQP4
    • Q969E5

    Protein attributes for TUBB4A Gene

    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

  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
  • 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

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

Graphical View of Domain Structure for InterPro Entry



  • The highly acidic C-terminal region may bind cations such as calcium.
  • Belongs to the tubulin family.
  • The highly acidic C-terminal region may bind cations such as calcium.
  • 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:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IEA --
GO:0005509 calcium ion binding IMP 10211825
GO:0005515 protein binding IPI 20195357
genes like me logo Genes that share ontologies with TUBB4A: view
genes like me logo Genes that share phenotypes with TUBB4A: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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

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 TUBB4A gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 3
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TUBB4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,HDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 21525035
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 --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0031115 negative regulation of microtubule polymerization IMP 10211825
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
calcium Approved Nutra 0
Epothilone D Experimental, Investigational Pharma Target 0
Patupilone Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
CYT997 Investigational Pharma Target 0

(2) Additional Compounds for TUBB4A Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for TUBB4A 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 TUBB4A: view

Transcripts for TUBB4A Gene

Unigene Clusters for TUBB4A Gene

Tubulin, beta 4A class IVa:
Representative Sequences:

Clone 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: - -

Relevant External Links for TUBB4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TUBB4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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:


SOURCE GeneReport for Unigene cluster for TUBB4A Gene:


mRNA Expression by UniProt/SwissProt for TUBB4A Gene:

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.

Evidence on tissue expression from TISSUES for TUBB4A Gene

  • Nervous system(5)
  • Eye(4.8)
  • Kidney(4.8)
  • Lung(4.8)
  • Skin(4.8)
  • Intestine(4.7)
  • Muscle(4.3)
  • Liver(4.1)
  • Blood(4)
  • Pancreas(3.9)
  • Stomach(3.8)
  • Heart(2.6)
  • Bone(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB4A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • vocal cord
  • chest wall
  • esophagus
  • abdominal wall
  • stomach
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with TUBB4A: view

Orthologs for TUBB4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB4A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TUBB4A 34
  • 100 (a)
TUBB4 33
  • 98.98 (n)
(Canis familiaris)
Mammalia TUBB4A 33 34
  • 93.84 (n)
(Bos Taurus)
Mammalia TUBB4A 33 34
  • 92.27 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 89 (a)
(Mus musculus)
Mammalia Tubb4a 33 16 34
  • 87.84 (n)
(Rattus norvegicus)
Mammalia Tubb4a 33
  • 87.76 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 98 (a)
(Danio rerio)
Actinopterygii zgc:55461 34
  • 98 (a)
zgc:123194 34
  • 97 (a)
wu:fj41e11 33
  • 83.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta betaTub56D 34
  • 90 (a)
betaTub60D 33
  • 84.47 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010510 33
  • 80.41 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 36
thale cress
(Arabidopsis thaliana)
eudicotyledons TUB9 33
  • 69.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7878 34
  • 97 (a)
CSA.4227 34
  • 96 (a)
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

Gene Tree for TUBB4A (if available)
Gene Tree for TUBB4A (if available)

Paralogs for TUBB4A Gene

Variants for TUBB4A Gene

Sequence variations from dbSNP and Humsavar for TUBB4A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1053377 benign, Leukodystrophy, hypomyelinating, 6, Dystonia 6,494,491(-) T/C 3_prime_UTR_variant
rs1053395 benign, Leukodystrophy, hypomyelinating, 6, Dystonia 6,494,360(-) G/C 3_prime_UTR_variant
rs111966371 likely-benign, Leukodystrophy, hypomyelinating, 6, Dystonia 6,494,671(-) G/C 3_prime_UTR_variant
rs113953942 likely-benign, Leukodystrophy, hypomyelinating, 6, Dystonia 6,495,111(-) C/T 3_prime_UTR_variant
rs118102196 conflicting-interpretations-of-pathogenicity, likely-benign, benign, Leukodystrophy, hypomyelinating, 6, Dystonia, not specified 6,495,578(-) G/A coding_sequence_variant, synonymous_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)

Additional Variant Information for TUBB4A Gene

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

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

Disorders for TUBB4A Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards


  • 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.

Additional Disease Information for 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 MG … Cowan NJ (Nucleic acids research 1984) 2 3 4 58
  2. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. (PMID: 23595291) Lohmann K … Klein C (Annals of neurology 2013) 2 3 58
  3. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. (PMID: 23424103) Hersheson J … Houlden H (Annals of neurology 2013) 3 4 58
  4. A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. (PMID: 23582646) Simons C … Vanderver A (American journal of human genetics 2013) 3 4 58
  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 research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58

Products for TUBB4A Gene

Sources for TUBB4A Gene

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