Aliases for TUBB4B Gene

Aliases for TUBB4B Gene

  • Tubulin Beta 4B Class IVb 2 3 5
  • Tubulin Beta-4B Chain 3 4
  • Tubulin Beta-2C Chain 3 4
  • Tubulin Beta-2 Chain 3 4
  • Tubulin, Beta 2C 2 3
  • TUBB2C 3 4
  • Beta2 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Class IVb Beta-Tubulin 2
  • Class IVb Beta Tubulin 3
  • Tubulin, Beta, 2 3
  • LCAEOD 3
  • TUBB4B 5
  • TUBB2 3

External Ids for TUBB4B Gene

Previous HGNC Symbols for TUBB4B Gene

  • TUBB2C

Previous GeneCards Identifiers for TUBB4B Gene

  • GC09P140136

Summaries for TUBB4B Gene

GeneCards Summary for TUBB4B Gene

TUBB4B (Tubulin Beta 4B Class IVb) is a Protein Coding gene. Diseases associated with TUBB4B include Leber Congenital Amaurosis With Early-Onset Deafness and Tubulin, Beta. Among its related pathways are Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding and Development Slit-Robo signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and unfolded protein binding. An important paralog of this gene is TUBB4A.

UniProtKB/Swiss-Prot Summary for TUBB4B 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 TUBB4B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBB4B Gene

Genomics for TUBB4B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBB4B 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
GH09J137233 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 -2.1 -2077 11.7 ZSCAN16 CHD2 ZBTB10 MXD4 SP1 NR2C1 MNT IKZF1 SMAD5 ETS1 TUBB4B EHMT1 ANAPC2 INPP5E ENTR1 NDOR1 DPH7 LOC651337 MAN1B1 SNHG7
GH09J137265 Enhancer 0.5 dbSUPER 13.4 +25.3 25333 1.9 ZIC2 ZNF189 NFIB POLR2A KLF1 RBFOX2 NFIC NELFB TUBB4B SLC34A3 NOXA1 EXD3 HSALNG0075385 TOR4A
GH09J137247 Promoter/Enhancer 1 EPDnew Ensembl CraniofacialAtlas 0.4 +6.3 6288 0.9 CEBPA ZIC2 TEAD3 GLIS2 ZBTB6 TEAD1 FAM166A lnc-FAM166A-2 NELFB STPG3 piR-54312-005 TUBB4B
GH09J137248 Enhancer 0.2 FANTOM5 0.4 +7.4 7442 0.2 lnc-FAM166A-2 LCNL1 ABCA2 SLC34A3 FAM166A STPG3 TUBB4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBB4B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBB4B

Genomic Locations for TUBB4B Gene

Latest Assembly
2,421 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
2,421 bases
Plus strand

(GRCh37/hg19 by Ensembl)
2,495 bases
Plus strand

Genomic View for TUBB4B Gene

Genes around TUBB4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB4B Gene

Proteins for TUBB4B Gene

  • Protein details for TUBB4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tubulin beta-4B chain
    Protein Accession:
    Secondary Accessions:
    • A2BFA2
    • P05217

    Protein attributes for TUBB4B Gene

    445 amino acids
    Molecular mass:
    49831 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 TUBB4B Gene

Post-translational modifications for TUBB4B 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).
  • 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.
  • Ubiquitination at Lys58
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB4B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB4B Gene

Domains & Families for TUBB4B Gene

Gene Families for TUBB4B Gene

Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBB4B Gene

GenScript: Design optimal peptide antigens:
  • Tubulin, beta 2C (Q8IZ29_HUMAN)
  • Tubulin, beta 2C (Q8N6N5_HUMAN)
  • TUBB2C protein (Q96HX0_HUMAN)
  • Tubulin beta-2 chain (TBB2C_HUMAN)

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 TUBB4B: view

Function for TUBB4B Gene

Molecular function for TUBB4B 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 TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IBA 21873635
GO:0005515 protein binding IPI 24275654
genes like me logo Genes that share ontologies with TUBB4B: view
genes like me logo Genes that share phenotypes with TUBB4B: view

Human Phenotype Ontology for TUBB4B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB4B

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB4B Gene

Localization for TUBB4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB4B 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 TUBB4B gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 4
lysosome 4
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Microtubules (3)
  • Mitotic spindle (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton TAS 16130169
genes like me logo Genes that share ontologies with TUBB4B: view

Pathways & Interactions for TUBB4B Gene

genes like me logo Genes that share pathways with TUBB4B: view

Pathways by source for TUBB4B Gene

10 GeneGo (Thomson Reuters) pathways for TUBB4B 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

SIGNOR curated interactions for TUBB4B Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007017 microtubule-based process IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with TUBB4B: view

Drugs & Compounds for TUBB4B Gene

(12) Drugs for TUBB4B Gene - From: DrugBank, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mebendazole Approved, Vet_approved Pharma Target, inhibitor, binder 56
Albendazole Approved, Vet_approved Pharma Target, inhibitor 116
Patupilone Experimental, Investigational Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0

(2) Additional Compounds for TUBB4B Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride

(5) Tocris Compounds for TUBB4B 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 TUBB4B: view

Transcripts for TUBB4B Gene

mRNA/cDNA for TUBB4B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB4B

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB4B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - - - - -
SP6: - - - -
SP7: - - - - - -

Relevant External Links for TUBB4B Gene

GeneLoc Exon Structure for

Expression for TUBB4B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBB4B Gene

mRNA differential expression in normal tissues according to GTEx for TUBB4B Gene

This gene is overexpressed in Testis (x4.6).

Protein differential expression in normal tissues from HIPED for TUBB4B Gene

This gene is overexpressed in Bone (9.3) and Retina (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBB4B Gene

Protein tissue co-expression partners for TUBB4B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBB4B

SOURCE GeneReport for Unigene cluster for TUBB4B Gene:


mRNA Expression by UniProt/SwissProt for TUBB4B Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for TUBB4B Gene

  • Skin(4.6)
  • Muscle(4.5)
  • Nervous system(4.5)
  • Lung(4.5)
  • Blood(4.4)
  • Heart(3.9)
  • Kidney(2.5)
  • Intestine(2.4)
  • Liver(2.4)
  • Stomach(2.2)
  • Lymph node(2.2)
  • Bone marrow(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with TUBB4B: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB4B Gene

Orthologs for TUBB4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB4B Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia TUBB4B 31
  • 100 (a)
LOC102153202 30
  • 92.43 (n)
(Monodelphis domestica)
Mammalia TUBB4B 31
  • 100 (a)
(Pan troglodytes)
Mammalia TUBB2C 30 31
  • 99.7 (n)
(Mus musculus)
Mammalia Tubb4b-ps1 31
  • 98 (a)
Tubb4b 30 17 31
  • 90.11 (n)
(Bos Taurus)
Mammalia TUBB4B 30 31
  • 91.84 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
(Rattus norvegicus)
Mammalia Tubb4b 30
  • 90.71 (n)
(Gallus gallus)
Aves TUBB2C 30 31
  • 86.83 (n)
(Anolis carolinensis)
Reptilia TUBB4B 31
  • 100 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tubb4b 30
  • 86.82 (n)
(Danio rerio)
Actinopterygii zgc:55461 31
  • 99 (a)
zgc:123194 31
  • 98 (a)
tubb4b 30
  • 83.07 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta betaTub56D 30 31
  • 84.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010929 30
  • 81.58 (n)
(Caenorhabditis elegans)
Secernentea tbb-4 30
  • 74.55 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR225C 30
  • 70.65 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 30
  • 66.59 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05269g 30
  • 62.92 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUB1 30
  • 71.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1232 30
(Glycine max)
eudicotyledons Gma.5502 30
(Oryza sativa)
Liliopsida Os03g0780600 30
  • 76.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7878 31
  • 98 (a)
CSA.4227 31
  • 97 (a)
-- 31
  • 59 (a)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04054 30
  • 76.27 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nda3 30
  • 65.18 (n)
Species where no ortholog for TUBB4B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TUBB4B Gene

Gene Tree for TUBB4B (if available)
Gene Tree for TUBB4B (if available)
Evolutionary constrained regions (ECRs) for TUBB4B: view image

Paralogs for TUBB4B Gene Pseudogenes for TUBB4B Gene

genes like me logo Genes that share paralogs with TUBB4B: view

Variants for TUBB4B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBB4B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
931932 Uncertain Significance: Leber congenital amaurosis with early-onset deafness 137,242,801(+) AAC/A
NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs)
rs1554786802 Likely Pathogenic: Leber congenital amaurosis with early-onset deafness. Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] 137,243,389(+) C/Tp.Arg391Cys
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys)
rs1554786803 Likely Pathogenic: Leber congenital amaurosis with early-onset deafness. Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] 137,243,390(+) G/Ap.Arg391His
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His)
rs201909594 Benign: not provided 137,243,253(+) C/T
NM_006088.6(TUBB4B):c.1035C>T (p.Ile345=)
rs61729109 Benign: not provided 137,242,785(+) C/T
NM_006088.6(TUBB4B):c.567C>T (p.Val189=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TUBB4B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TUBB4B Gene

Variant ID Type Subtype PubMed ID
dgv13009n54 CNV loss 21841781
dgv13011n54 CNV loss 21841781
esv2422220 CNV deletion 17116639
nsv1161918 CNV duplication 26073780
nsv524322 CNV loss 19592680
nsv951207 CNV deletion 24416366

Variation tolerance for TUBB4B Gene

Residual Variation Intolerance Score: 4.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB4B Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB4B Gene

Disorders for TUBB4B Gene

MalaCards: The human disease database

(6) MalaCards diseases for TUBB4B Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
leber congenital amaurosis with early-onset deafness
  • lcaeod
tubulin, beta
chondroid chordoma
lissencephaly 2
  • lis2
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
- elite association - COSMIC cancer census association via MalaCards


  • Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879]: An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients. {ECO:0000269 PubMed:29198720}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TUBB4B

genes like me logo Genes that share disorders with TUBB4B: view

No data available for Genatlas for TUBB4B Gene

Publications for TUBB4B Gene

  1. Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. (PMID: 29198720) Luscan R … Perrault I (American journal of human genetics 2017) 3 4 74
  2. Three expressed sequences within the human beta-tubulin multigene family each define a distinct isotype. (PMID: 3999141) Lewis SA … Cowan NJ (Journal of molecular biology 1985) 2 3 4
  3. Proteomic comparison of nasopharyngeal cancer cell lines C666-1 and NP69 identifies down-regulation of annexin II and beta2-tubulin for nasopharyngeal carcinoma. (PMID: 18384219) Chan CM … Chan AT (Archives of pathology & laboratory medicine 2008) 3 23
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry. (PMID: 32529326) Sanderson MR … Wevrick R (Human genetics 2020) 3

Products for TUBB4B Gene

Sources for TUBB4B Gene