This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provid... See more...

Aliases for TUBB Gene

Aliases for TUBB Gene

  • Tubulin Beta Class I 2 3 5
  • Tubulin, Beta Polypeptide 2 3
  • Tubulin Beta-5 Chain 3 4
  • Tubulin Beta Chain 3 4
  • OK/SW-Cl.56 2 3
  • TUBB5 3 4
  • M40 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Tubulin, Beta Class I 2
  • Class I Beta-Tubulin 2
  • Tubulin Beta-1 Chain 3
  • Beta Ib Tubulin 3
  • Beta1-Tubulin 2
  • Tubulin, Beta 2
  • MGC16435 2
  • CDCBM6 3
  • CSCSC1 3
  • TUBB1 3
  • Tubb5 2
  • TUBB 5

External Ids for TUBB Gene

Previous GeneCards Identifiers for TUBB Gene

  • GC06M003138
  • GC06M003098
  • GC06P030797
  • GC06Pc30826
  • GC06P030687
  • GC06P030489
  • GC06P030720
  • GC06P049331

Summaries for TUBB Gene

Entrez Gene Summary for TUBB Gene

  • This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]

GeneCards Summary for TUBB Gene

TUBB (Tubulin Beta Class I) is a Protein Coding gene. Diseases associated with TUBB include Cortical Dysplasia, Complex, With Other Brain Malformations 6 and Skin Creases, Congenital Symmetric Circumferential, 1. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include GTP binding and structural molecule activity. An important paralog of this gene is TUBB4B.

UniProtKB/Swiss-Prot Summary for TUBB 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 TUBB 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 TUBB Gene

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

Genomics for TUBB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBB 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
GH06J030715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +3.0 2998 9.5 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 MYC ZNF600 IKZF1 SIX5 SSRP1 TUBB NONHSAG043429.2 piR-37163-002 MDC1 DDX39B LY6G5B DHX16 PPP1R10 PAIP1P1 TRIM39
GH06J030757 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +46.9 46884 14 BCLAF1 NCOR1 ZNF600 IKZF1 SSRP1 JUND ZNF580 ZNF592 ZMYM3 KLF9 HCG20 piR-32214-582 MDC1 IER3 PPP1R10 HCG18 DDX39B GTF2H4 LY6G5B PAIP1P1
GH06J030746 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +33.6 33641 8.8 IKZF1 ZNF600 JUND ZNF580 ZNF592 ATF2 KLF9 CEBPA ZIC2 ZBTB10 HSALNG0049196 RN7SL353P lnc-TUBB-15 MDC1 IER3 GTF2H4 PAIP1P1 PPP1R10 DDX39B LY6G5B
GH06J030695 Enhancer 1.1 Ensembl ENCODE 12.6 -21.9 -21934 1 KLF9 CEBPA YY1 ZNF217 CEBPB HOMEZ MAX KMT2B EP300 THAP11 MDC1 MICD TUBB C6orf136 FLOT1 IER3 HCG21 GTF2H4 HLA-H NRM
GH06J030666 Enhancer 0.8 Ensembl 12.3 -50.9 -50934 0.6 ATF2 KLF9 SMAD4 SAP130 RARA GABPB1 THRB FOSL2 JUND ZEB2 DHX16 VARS2 PTMAP1 ATAT1 TUBB MDC1 MRPS18B PPP1R10 MDC1-AS1 FLOT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the TUBB gene promoter:
  • AP-1
  • GR
  • GR-alpha
  • GR-beta
  • p53
  • STAT1
  • STAT3

Genomic Locations for TUBB Gene

Latest Assembly
chr6:30,717,435-30,725,538
(GRCh38/hg38)
Size:
8,104 bases
Orientation:
Plus strand

Previous Assembly
chr6:30,688,129-30,693,199
(GRCh37/hg19 by Entrez Gene)
Size:
5,071 bases
Orientation:
Plus strand

chr6:30,687,978-30,693,203
(GRCh37/hg19 by Ensembl)
Size:
5,226 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr6(ALT_REF_LOCI_1):2,049,855-2,054,925 (+)
  • chr6(ALT_REF_LOCI_2):2,200,091-2,205,161 (+)
  • chr6(ALT_REF_LOCI_3):1,976,202-1,981,272 (+)
  • chr6(ALT_REF_LOCI_4):2,030,603-2,035,673 (+)
  • chr6(ALT_REF_LOCI_5):2,064,427-2,069,497 (+)
  • chr6(ALT_REF_LOCI_6):1,975,464-1,980,535 (+)
  • chr6(ALT_REF_LOCI_7):2,021,138-2,026,208 (+)

Genomic View for TUBB Gene

Genes around TUBB on UCSC Golden Path with GeneCards custom track

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

Proteins for TUBB Gene

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

    Protein Symbol:
    P07437-TBB5_HUMAN
    Recommended name:
    Tubulin beta chain
    Protein Accession:
    P07437
    Secondary Accessions:
    • P05218
    • Q8WUC1
    • Q9CY33

    Protein attributes for TUBB Gene

    Size:
    444 amino acids
    Molecular mass:
    49671 Da
    Quaternary structure:
    • Heterodimer of alpha and beta chains (PubMed:26637975). 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 PIFO (PubMed:20643351). Interacts with DIAPH1 (PubMed:23325789). Interacts with MX1 (By similarity). May interact with RNABP10 (By similarity). Interacts with CFAP157 (By similarity).

    Three dimensional structures from OCA and Proteopedia for TUBB Gene

neXtProt entry for TUBB Gene

Post-translational modifications for TUBB 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 Lys297, Lys324, Lys362, and Lys379
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for TUBB Gene

Domains & Families for TUBB Gene

Gene Families for TUBB Gene

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

Suggested Antigen Peptide Sequences for TUBB Gene

GenScript: Design optimal peptide antigens:
  • Tubulin, beta, isoform CRA_a (Q5SU16_HUMAN)
  • TUBB protein (Q6P602_HUMAN)
  • TUBB protein (Q96B85_HUMAN)
  • TUBB protein (Q9BUU9_HUMAN)
  • Tubulin beta-5 chain (TBB5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07437

UniProtKB/Swiss-Prot:

TBB5_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 TUBB: view

Function for TUBB Gene

Molecular function for TUBB 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.
GENATLAS Biochemistry:
tubulin,beta polypeptide

Phenotypes From GWAS Catalog for TUBB Gene

Gene Ontology (GO) - Molecular Function for TUBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005198 structural molecule activity TAS --
GO:0005200 structural constituent of cytoskeleton IEA,IBA 21873635
GO:0005515 protein binding IPI 16049941
genes like me logo Genes that share ontologies with TUBB: view
genes like me logo Genes that share phenotypes with TUBB: view

Human Phenotype Ontology for TUBB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TUBB Gene

miRTarBase miRNAs that target TUBB

Inhibitory RNAs for research

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

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

Localization for TUBB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB 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 TUBB gene
Compartment Confidence
cytoskeleton 5
nucleus 5
extracellular 4
lysosome 4
cytosol 3
plasma membrane 2
mitochondrion 2
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 TUBB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IEA,HDA 21630459
GO:0005641 nuclear envelope lumen IDA --
GO:0005737 cytoplasm IEA,IDA 23178297
GO:0005856 cytoskeleton IEA,TAS 16130169
genes like me logo Genes that share ontologies with TUBB: view

Pathways & Interactions for TUBB Gene

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

Pathways by source for TUBB Gene

10 GeneGo (Thomson Reuters) pathways for TUBB 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
2 Cell Signaling Technology pathways for TUBB Gene

SIGNOR curated interactions for TUBB Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for TUBB 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:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IEA,TAS --
genes like me logo Genes that share ontologies with TUBB: view

Drugs & Compounds for TUBB Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Colchicine Approved Pharma Target, inhibitor, binder Tubulin Inhibitor 180
Vinblastine Approved Pharma Target, adduct, inhibitor 195
Vincristine Approved, Investigational Pharma Target, inhibitor, binder Microtubule disrupter,antitumor agent 1112
Docetaxel Approved, Investigational Pharma Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2429
Vinorelbine Approved, Investigational Pharma Target, antagonist, inhibitor 466

(50) Additional Compounds for TUBB Gene - From: Novoseek and Tocris

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

(5) Tocris Compounds for TUBB 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

(7) ApexBio Compounds for TUBB Gene

Compound Action Cas Number
Albendazole Oxide 54029-12-8
Combretastatin A4 117048-59-6
Docetaxel Microtubulin disassembly inhibitor 114977-28-5
Epothilone A Microtubule stabilizing macrolide 152044-53-6
Epothilone B (EPO906, Patupilone) Microtubule stabilizing macrolide 152044-54-7
MPC 6827 hydrochloride Potent microtubule inhibitor 917369-31-4
Plinabulin (NPI-2358) Tumor cell lines inhibitor 714272-27-2
genes like me logo Genes that share compounds with TUBB: view

Drug products for research

Transcripts for TUBB Gene

mRNA/cDNA for TUBB Gene

6 REFSEQ mRNAs :
42 NCBI additional mRNA sequence :
7 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 TUBB

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

No ASD Table

Relevant External Links for TUBB Gene

GeneLoc Exon Structure for
TUBB

Expression for TUBB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB Gene

This gene is overexpressed in Bone (22.2) and Bone marrow stromal cell (7.6).

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



Protein tissue co-expression partners for TUBB Gene

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

SOURCE GeneReport for Unigene cluster for TUBB Gene:

Hs.636480

mRNA Expression by UniProt/SwissProt for TUBB Gene:

P07437-TBB5_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in spleen, thymus and immature brain.

Evidence on tissue expression from TISSUES for TUBB Gene

  • Nervous system(4.6)
  • Liver(4.6)
  • Lung(4.5)
  • Eye(4.5)
  • Muscle(4.4)
  • Blood(3)
  • Bone marrow(3)
  • Heart(2.9)
  • Spleen(2.8)
  • Kidney(2.6)
  • Intestine(2.6)
  • Lymph node(2.5)
  • Skin(2.5)
  • Adrenal gland(2.1)
  • Thyroid gland(2)

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

Germ Layers:
  • ectoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
genes like me logo Genes that share expression patterns with TUBB: view

No data available for mRNA differential expression in normal tissues for TUBB Gene

Orthologs for TUBB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia TUBB5 30
  • 100 (a)
OneToOne
TUBB 29
  • 92.27 (n)
Oppossum
(Monodelphis domestica)
Mammalia TUBB 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia TUBB 29 30
  • 99.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TUBB 29 30
  • 92.27 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TUBB 30
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tubb5 29 16 30
  • 91.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tubb5 29
  • 90.69 (n)
Chicken
(Gallus gallus)
Aves TUBB 29 30
  • 85.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TUBB 30
  • 97 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tubb 29
  • 83.33 (n)
Zebrafish
(Danio rerio)
Actinopterygii tubb5 29 30
  • 83.26 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta &bgr;Tub56D 31
  • 97 (a)
&bgr;Tub85D 31
  • 96 (a)
betaTub56D 30
  • 89 (a)
OneToMany
&bgr;Tub60D 31
  • 88 (a)
CG4869 31
  • 86 (a)
Worm
(Caenorhabditis elegans)
Secernentea mec-7 31
  • 94 (a)
tbb-4 31
  • 93 (a)
tbb-2 31
  • 90 (a)
tbb-1 31
  • 88 (a)
ben-1 29 31
  • 75.06 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 32
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUB6 29
  • 73.58 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6402 29
Rice
(Oryza sativa)
Liliopsida Os01g0805900 29
  • 76.85 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.735 29
Wheat
(Triticum aestivum)
Liliopsida Ta.1544 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7878 30
  • 96 (a)
ManyToMany
CSA.4227 30
  • 96 (a)
ManyToMany
Species where no ortholog for TUBB 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)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)

Evolution for TUBB Gene

ENSEMBL:
Gene Tree for TUBB (if available)
TreeFam:
Gene Tree for TUBB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB: view image
Alliance of Genome Resources:
Additional Orthologs for TUBB

Paralogs for TUBB Gene

(30) SIMAP similar genes for TUBB Gene using alignment to 8 proteins:

  • TBB5_HUMAN
  • E9PBJ4_HUMAN
  • Q5JP53_HUMAN
  • Q5ST81_HUMAN
  • Q5SU16_HUMAN
  • Q6P602_HUMAN
  • Q96B85_HUMAN
  • Q9BUU9_HUMAN
genes like me logo Genes that share paralogs with TUBB: view

Variants for TUBB Gene

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

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1030361 Uncertain Significance: Cortical dysplasia, complex, with other brain malformations 6 30,723,661(+) A/G
NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys)
MISSENSE_VARIANT,INTRON
1031753 Uncertain Significance: Symmetric circumferential skin creases, congenital, 1 30,722,640(+) C/T
NM_178014.4(TUBB):c.161C>T (p.Ala54Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
916073 Likely Pathogenic: not provided 30,723,486(+) G/T
NM_178014.4(TUBB):c.424G>T (p.Gly142Cys)
MISSENSE_VARIANT,INTRON
976678 Likely Pathogenic: Cortical dysplasia, complex, with other brain malformations 6 30,722,618(+) A/G
NM_178014.4(TUBB):c.139A>G (p.Ile47Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
977846 Pathogenic: Cortical dysplasia, complex, with other brain malformations 6 30,724,323(+) G/A
NM_178014.4(TUBB):c.1261G>A (p.Glu421Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

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

Variant ID Type Subtype PubMed ID
esv2670269 CNV deletion 23128226
esv2731791 CNV deletion 23290073
esv2759413 CNV loss 17122850
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv830626 CNV loss 17160897
nsv970104 CNV duplication 23825009

Variation tolerance for TUBB Gene

Residual Variation Intolerance Score: 26.7% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB Gene

Human Gene Mutation Database (HGMD)
TUBB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB
Leiden Open Variation Database (LOVD)
TUBB

SNP Genotyping and Copy Number Assays for research

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

Disorders for TUBB Gene

MalaCards: The human disease database

(21) MalaCards diseases for TUBB Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

TBB5_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria. {ECO:0000269 PubMed:23246003}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610]: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. {ECO:0000269 PubMed:26637975}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TUBB

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TUBB: view

No data available for Genatlas for TUBB Gene

Publications for TUBB Gene

  1. Tubulins in the primate retina: evidence that xanthophylls may be endogenous ligands for the paclitaxel-binding site. (PMID: 11504633) Crabtree DV … Adler AJ (Bioorganic & medicinal chemistry 2001) 2 3 4 22
  2. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. (PMID: 26637975) Isrie M … Van Esch H (American journal of human genetics 2015) 3 4 72
  3. Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1. (PMID: 16371510) Fourest-Lieuvin A … Job D (Molecular biology of the cell 2006) 3 4 22
  4. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. (PMID: 23246003) Breuss M … Keays DA (Cell reports 2012) 3 4
  5. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. (PMID: 20191564) Leandro-García LJ … Rodríguez-Antona C (Cytoskeleton (Hoboken, N.J.) 2010) 3 4

Products for TUBB Gene