TUBB3 Gene (Protein Coding)

Tubulin Beta 3 Class III

GC16P089919
GIFtS:
49
This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibros... See more...

Aliases for TUBB3 Gene

Aliases for TUBB3 Gene

  • Tubulin Beta 3 Class III 2 3 5
  • Class III Beta-Tubulin 2 3
  • Tubulin Beta-3 Chain 3 4
  • Tubulin Beta-4 Chain 3 4
  • Tubulin Beta-III 3 4
  • Tubulin, Beta 3 2 3
  • CFEOM3A 2 3
  • CFEOM3 2 3
  • Beta-4 2 3
  • TUBB4 3 4
  • Fibrosis Of Extraocular Muscles, Congenital, 3 2
  • CDCBM1 3
  • CDCBM 3
  • FEOM3 3
  • TUBB3 5

External Ids for TUBB3 Gene

Previous HGNC Symbols for TUBB3 Gene

  • FEOM3

Previous GeneCards Identifiers for TUBB3 Gene

  • GC16P088514
  • GC16P089987
  • GC16P089991
  • GC16P089996
  • GC16P089999

Summaries for TUBB3 Gene

Entrez Gene Summary for TUBB3 Gene

  • This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]

CIViC Summary for TUBB3 Gene

GeneCards Summary for TUBB3 Gene

TUBB3 (Tubulin Beta 3 Class III) is a Protein Coding gene. Diseases associated with TUBB3 include Cortical Dysplasia, Complex, With Other Brain Malformations 1 and Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement. Among its related pathways are Neuroscience and Cell cycle_Spindle assembly and chromosome separation. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and GTPase activity. An important paralog of this gene is ENSG00000198211.

UniProtKB/Swiss-Prot Summary for TUBB3 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. TUBB3 plays a critical role in proper axon guidance and mantainance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Plays a role in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977).

Tocris Summary for TUBB3 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 TUBB3 Gene

Additional gene information for TUBB3 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBB3 Gene

Genomics for TUBB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for TUBB3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBB3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBB3

Top Transcription factor binding sites by QIAGEN in the TUBB3 gene promoter:
  • CREB
  • deltaCREB
  • Meis-1
  • MyoD
  • NRSF form 1
  • NRSF form 2
  • ZIC2

Genomic Locations for TUBB3 Gene

Genomic Locations for TUBB3 Gene
chr16:89,921,392-89,938,761
(GRCh38/hg38)
Size:
17,370 bases
Orientation:
Plus strand
chr16:89,985,573-90,002,505
(GRCh37/hg19)
Size:
16,933 bases
Orientation:
Plus strand

Genomic View for TUBB3 Gene

Genes around TUBB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for TUBB3 Gene

Proteins for TUBB3 Gene

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  • Protein details for TUBB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13509-TBB3_HUMAN
    Recommended name:
    Tubulin beta-3 chain
    Protein Accession:
    Q13509
    Secondary Accessions:
    • A8K854
    • Q9BTZ0
    • Q9BW10

    Protein attributes for TUBB3 Gene

    Size:
    450 amino acids
    Molecular mass:
    50433 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. Interacts with UNC5C (via cytoplasmic domain); this interaction is decreased by NTN1/Netrin-1 (PubMed:28483977).

    Three dimensional structures from OCA and Proteopedia for TUBB3 Gene

    Alternative splice isoforms for TUBB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TUBB3 Gene

Protein Expression for TUBB3 Gene

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

Post-translational modifications for TUBB3 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 Lys362 and Lys379
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TUBB3 Gene

Domains & Families for TUBB3 Gene

Gene Families for TUBB3 Gene

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

Protein Domains for TUBB3 Gene

InterPro:
Blocks:
  • Beta tubulin
ProtoNet:

Suggested Antigen Peptide Sequences for TUBB3 Gene

GenScript: Design optimal peptide antigens:
  • TUBB3 protein (Q3ZCR3_HUMAN)
  • TUBB3 protein (Q9BV28_HUMAN)
  • Tubulin beta-III (TBB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13509

UniProtKB/Swiss-Prot:

TBB3_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 TUBB3: view

Function for TUBB3 Gene

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Molecular function for TUBB3 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. TUBB3 plays a critical role in proper axon guidance and mantainance. Binding of NTN1/Netrin-1 to its receptor UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Plays a role in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977).

Phenotypes From GWAS Catalog for TUBB3 Gene

Gene Ontology (GO) - Molecular Function for TUBB3 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:0005515 protein binding IPI 21044950
GO:0005525 GTP binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with TUBB3: view
genes like me logo Genes that share phenotypes with TUBB3: view

Human Phenotype Ontology for TUBB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB3 Gene

Localization for TUBB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB3 Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, filopodium.

Gene Ontology (GO) - Cellular Components for TUBB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 21525035
GO:0030027 lamellipodium ISS --
genes like me logo Genes that share ontologies with TUBB3: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for TUBB3 Gene

Pathways & Interactions for TUBB3 Gene

PathCards logo

SuperPathways for TUBB3 Gene

SuperPathway Contained pathways
1 Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding
.85
Prefoldin mediated transfer of substrate to CCT/TriC
.85
Formation of tubulin folding intermediates by CCT/TriC
.76
Post-chaperonin tubulin folding pathway
.53
2 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
3 Parkinson disease
Huntington disease
.46
Parkinson disease
.46
Alzheimer disease
.45
4 Sertoli-Sertoli Cell Junction Dynamics
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
Epithelial Tight Junctions
.36
5 G-Beta Gamma Signaling
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
genes like me logo Genes that share pathways with TUBB3: view

Pathways by source for TUBB3 Gene

10 GeneGo (Thomson Reuters) pathways for TUBB3 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
9 Qiagen pathways for TUBB3 Gene
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Hedgehog Signaling in Mammals
2 Cell Signaling Technology pathways for TUBB3 Gene

SIGNOR curated interactions for TUBB3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB3 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
GO:0007411 axon guidance ISS --
genes like me logo Genes that share ontologies with TUBB3: view

Drugs & Compounds for TUBB3 Gene

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(26) Drugs for TUBB3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ixabepilone Approved, Investigational Pharma Target, inhibitor Epothilone B analog;microtubule-stabilizing agent 0
Colchicine Approved Pharma Antagonist Tubulin Inhibitor 157
Docetaxel Approved, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Paclitaxel Approved, Vet_approved Pharma inhibitor, Biomarker, binder Tubulin and Bcl2 inhibitor, Taxanes 3701
Patupilone Experimental, Investigational Pharma Target 0

(9) Additional Compounds for TUBB3 Gene - From: Novoseek and Tocris

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

(5) Tocris Compounds for TUBB3 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

(3) ApexBio Compounds for TUBB3 Gene

Compound Action Cas Number
Colchicine Tubulin Inhibitor 64-86-8
Epothilone A Microtubule stabilizing macrolide 152044-53-6
Epothilone B (EPO906, Patupilone) Microtubule stabilizing macrolide 152044-54-7
genes like me logo Genes that share compounds with TUBB3: view

Drug Products

Transcripts for TUBB3 Gene

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mRNA/cDNA for TUBB3 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
15 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 TUBB3

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d · 11e
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - -
SP9: -
SP10:
SP11: - -

Relevant External Links for TUBB3 Gene

GeneLoc Exon Structure for
TUBB3

Expression for TUBB3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBB3 Gene

mRNA expression in normal human tissues for TUBB3 Gene
mRNA expression by BioGPS for TUBB3 GenemRNA expression by GTEx for TUBB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB3 Gene

This gene is overexpressed in Fetal Brain (27.9), Bone (10.7), Frontal cortex (7.1), Spinal cord (7.0), and Retina (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TUBB3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBB3

SOURCE GeneReport for Unigene cluster for TUBB3 Gene:

Hs.511743

mRNA Expression by UniProt/SwissProt for TUBB3 Gene:

Q13509-TBB3_HUMAN
Tissue specificity: Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues.

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TUBB3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Evidence on tissue expression from TISSUES for TUBB3 Gene

Orthologs for TUBB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUBB3 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
 Mammalia -- 31
  • 100 (a)
 OneToOne
TUBB3 30
  • 92.96 (n)
Chimpanzee
(Pan troglodytes)
 Mammalia -- 31
  • 100 (a)
 OneToOne
TUBB3 30
  • 99.19 (n)
Cow
(Bos Taurus)
 Mammalia TUBB3 30 31
  • 93.41 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tubb3 30
  • 90.96 (n)
Mouse
(Mus musculus)
 Mammalia Tubb3 30 17 31
  • 90.74 (n)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 86 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves TUBB3 30
  • 91.54 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia tubb3 30
  • 81.99 (n)
MGC76202 30
Zebrafish
(Danio rerio)
 Actinopterygii FP102463.1 31
  • 82 (a)
 OneToMany
Species where no ortholog for TUBB3 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TUBB3 Gene

ENSEMBL:
Gene Tree for TUBB3 (if available)
TreeFam:
Gene Tree for TUBB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB3: view image

Paralogs for TUBB3 Gene

Paralogs for TUBB3 Gene

(31) SIMAP similar genes for TUBB3 Gene using alignment to 13 proteins:

  • TBB3_HUMAN
  • A8K854_HUMAN
  • G3V2A3_HUMAN
  • G3V2N6_HUMAN
  • G3V2R8_HUMAN
  • G3V3J6_HUMAN
  • G3V3R4_HUMAN
  • G3V3W7_HUMAN
  • G3V4U2_HUMAN
  • G3V542_HUMAN
  • G3V5W4_HUMAN
  • Q3ZCR3_HUMAN
  • Q9BV28_HUMAN

Pseudogenes.org Pseudogenes for TUBB3 Gene

genes like me logo Genes that share paralogs with TUBB3: view

Variants for TUBB3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBB3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
644964 Uncertain Significance: not provided 89,935,763(+) G/C MISSENSE_VARIANT
668581 Likely Benign: not provided 89,923,372(+) G/T FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
670258 Benign: not provided 89,932,386(+) G/A INTRON_VARIANT
670259 Benign: not provided 89,934,517(+) T/C INTRON_VARIANT
673982 Benign: not provided 89,933,636(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TUBB3 Gene

Structural Variations from Database of Genomic Variants (DGV) for TUBB3 Gene

Variant ID Type Subtype PubMed ID
esv2660542 CNV deletion 23128226
esv2762221 CNV gain+loss 21179565
esv3553921 CNV deletion 23714750
nsv1066499 CNV loss 25217958
nsv1070371 CNV deletion 25765185
nsv428331 CNV gain+loss 18775914
nsv482951 CNV loss 15286789
nsv509640 CNV insertion 20534489
nsv525671 CNV loss 19592680
nsv573799 CNV gain 21841781
nsv573810 CNV loss 21841781

Variation tolerance for TUBB3 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB3 Gene

Human Gene Mutation Database (HGMD)
TUBB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB3 Gene

Disorders for TUBB3 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TUBB3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 1
  • cdcbm1
fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
  • cfeom3a
tubulinopathy-associated dysgyria
  • brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
tubulin, beta
- elite association - COSMIC cancer census association via MalaCards
Search TUBB3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB3_HUMAN
  • Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases, the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy. {ECO:0000269 PubMed:20074521}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. {ECO:0000269 PubMed:20829227}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBB3

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TUBB3: view

No data available for Genatlas for TUBB3 Gene

Publications for TUBB3 Gene

  1. Cloning and sequencing of human betaIII-tubulin cDNA: induction of betaIII isotype in human prostate carcinoma cells by acute exposure to antimicrotubule agents. (PMID: 9473684) Ranganathan S … Hudes GR (Biochimica et biophysica acta 1998) 2 3 4 23
  2. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. (PMID: 20074521) Tischfield MA … Engle EC (Cell 2010) 2 3 4
  3. Uncoupling of UNC5C with Polymerized TUBB3 in Microtubules Mediates Netrin-1 Repulsion. (PMID: 28483977) Shao Q … Liu G (The Journal of neuroscience : the official journal of the Society for Neuroscience 2017) 3 4
  4. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. (PMID: 20406197) Tischfield MA … Engle EC (Bioscience reports 2010) 3 23
  5. The role of betaIII tubulin in predicting chemoresistance in non-small cell lung cancer. (PMID: 19828208) Sève P … Dumontet C (Lung cancer (Amsterdam, Netherlands) 2010) 3 23

ExternalLinks

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Products for TUBB3 Gene

  • Addgene plasmids for TUBB3

Sources for TUBB3 Gene