Aliases for TUBB6 Gene

Aliases for TUBB6 Gene

  • Tubulin Beta 6 Class V 2 3 5
  • Tubulin Beta Class V 3 4
  • Tubulin Beta-6 Chain 3 4
  • Class V Beta-Tubulin 2 3
  • Tubulin Beta MGC4083 2 3
  • Tubulin, Beta 6 2 3
  • Tubulin, Beta 6 Class V 2
  • HsT1601 3
  • FPVEPD 3
  • TUBB-5 3

External Ids for TUBB6 Gene

Previous GeneCards Identifiers for TUBB6 Gene

  • GC18P012299

Summaries for TUBB6 Gene

GeneCards Summary for TUBB6 Gene

TUBB6 (Tubulin Beta 6 Class V) is a Protein Coding gene. Diseases associated with TUBB6 include Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction and Ptosis. Among its related pathways are Phagosome and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB3.

UniProtKB/Swiss-Prot Summary for TUBB6 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 TUBB6 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 (+).

Additional gene information for TUBB6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBB6 Gene

Genomics for TUBB6 Gene

GeneHancer (GH) Regulatory Elements for TUBB6 Gene

Promoters and enhancers for TUBB6 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 TUBB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TUBB6 gene promoter:
  • ATF
  • Egr-3
  • Elk-1
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-2
  • ITF-2
  • Spz1
  • Tal-1beta

Genomic Locations for TUBB6 Gene

Genomic Locations for TUBB6 Gene
chr18:12,307,669-12,344,320
(GRCh38/hg38)
Size:
36,652 bases
Orientation:
Plus strand
chr18:12,307,668-12,344,319
(GRCh37/hg19)
Size:
36,652 bases
Orientation:
Plus strand

Genomic View for TUBB6 Gene

Genes around TUBB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB6 Gene

Proteins for TUBB6 Gene

  • Protein details for TUBB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BUF5-TBB6_HUMAN
    Recommended name:
    Tubulin beta-6 chain
    Protein Accession:
    Q9BUF5
    Secondary Accessions:
    • B3KM76
    • Q9HA42

    Protein attributes for TUBB6 Gene

    Size:
    446 amino acids
    Molecular mass:
    49857 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 TUBB6 Gene

Post-translational modifications for TUBB6 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 and Lys362
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TUBB6 Gene

Domains & Families for TUBB6 Gene

Gene Families for TUBB6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBB6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ35358 fis, clone PUAEN2000497, highly similar to Tubulin beta-6 chain (B3KS31_HUMAN)
  • cDNA FLJ52712, highly similar to Tubulin beta-6 chain (B4DP54_HUMAN)
  • TUBB6 protein (Q2NKY5_HUMAN)
  • Tubulin beta-6 chain (TBB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BUF5

UniProtKB/Swiss-Prot:

TBB6_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 TUBB6: view

Function for TUBB6 Gene

Molecular function for TUBB6 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.

Phenotypes From GWAS Catalog for TUBB6 Gene

Gene Ontology (GO) - Molecular Function for TUBB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IBA,IEA 21873635
GO:0005515 protein binding IPI 24275654
GO:0005525 GTP binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with TUBB6: view
genes like me logo Genes that share phenotypes with TUBB6: view

Human Phenotype Ontology for TUBB6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TUBB6 Gene

miRTarBase miRNAs that target TUBB6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB6 Gene

Localization for TUBB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB6 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 TUBB6 gene
Compartment Confidence
cytoskeleton 5
cytosol 3
peroxisome 1
nucleus 1
extracellular 0

Gene Ontology (GO) - Cellular Components for TUBB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 21525035
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with TUBB6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TUBB6 Gene

Pathways & Interactions for TUBB6 Gene

genes like me logo Genes that share pathways with TUBB6: view

SIGNOR curated interactions for TUBB6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TUBB6 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 IBA,IEA 21873635
genes like me logo Genes that share ontologies with TUBB6: view

Drugs & Compounds for TUBB6 Gene

(7) Drugs for TUBB6 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 108
Guanosine triphosphate Experimental Pharma 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
CYT997 Investigational Pharma Target 0

(2) Additional Compounds for TUBB6 Gene - From: Tocris

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

(5) Tocris Compounds for TUBB6 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 TUBB6: view

Transcripts for TUBB6 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - - -
SP2: - - - -
SP3: - -
SP4: - -
SP5: - - - - -
SP6: - - - - -
SP7: - - -

Relevant External Links for TUBB6 Gene

GeneLoc Exon Structure for
TUBB6
ECgene alternative splicing isoforms for
TUBB6

Expression for TUBB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TUBB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TUBB6 Gene

This gene is overexpressed in Bone (36.4), Bone marrow stromal cell (8.0), and Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBB6 Gene



Protein tissue co-expression partners for TUBB6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUBB6 Gene:

TUBB6

SOURCE GeneReport for Unigene cluster for TUBB6 Gene:

Hs.193491

mRNA Expression by UniProt/SwissProt for TUBB6 Gene:

Q9BUF5-TBB6_HUMAN
Tissue specificity: Ubiquitous. Maximal expression in breast and lung, where it represents around 10% of all beta-tubulins. Largely decreased expression in most cancerous tissues.

Evidence on tissue expression from TISSUES for TUBB6 Gene

  • Nervous system(3.9)
  • Skin(3.6)
  • Lung(3.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with TUBB6: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB6 Gene

Orthologs for TUBB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TUBB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TUBB6 33 32
  • 99.33 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TUBB6 33
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TUBB6 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUBB6 33 32
  • 93.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TUBB6 33 32
  • 91.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tubb6 32
  • 91.38 (n)
mouse
(Mus musculus)
Mammalia Tubb6 17 33 32
  • 90.3 (n)
chicken
(Gallus gallus)
Aves TUBB6 33 32
  • 82.29 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tubb6 32
  • 78.14 (n)
zebrafish
(Danio rerio)
Actinopterygii tubb6 33
  • 94 (a)
OneToOne
Species where no ortholog for TUBB6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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 TUBB6 Gene

ENSEMBL:
Gene Tree for TUBB6 (if available)
TreeFam:
Gene Tree for TUBB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB6: view image

Paralogs for TUBB6 Gene

(31) SIMAP similar genes for TUBB6 Gene using alignment to 14 proteins:

  • TBB6_HUMAN
  • B3KS31_HUMAN
  • K7EJ64_HUMAN
  • K7EJZ4_HUMAN
  • K7EK43_HUMAN
  • K7EL29_HUMAN
  • K7EN98_HUMAN
  • K7EPE5_HUMAN
  • K7EQT3_HUMAN
  • K7ERA8_HUMAN
  • K7ES63_HUMAN
  • K7ESM5_HUMAN
  • K7ESQ3_HUMAN
  • Q2NKY5_HUMAN

Pseudogenes.org Pseudogenes for TUBB6 Gene

genes like me logo Genes that share paralogs with TUBB6: view

Variants for TUBB6 Gene

Sequence variations from dbSNP and Humsavar for TUBB6 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1129115 benign, Spinocerebellar Ataxia, Dominant 12,329,537(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs113981080 benign, likely-benign, not specified, Spinocerebellar Ataxia, Dominant, not provided 12,329,563(+) C/A/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs114203162 likely-benign, Spinocerebellar Ataxia, Dominant 12,329,456(+) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs117182113 uncertain-significance, likely-benign, not specified, Spinocerebellar Ataxia, Dominant, not provided 12,329,645(+) G/A/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1555669248 pathogenic, FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION, Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732] 12,325,970(+) T/C coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TUBB6 Gene

Variant ID Type Subtype PubMed ID
esv2758714 CNV loss 17122850
nsv1060808 CNV gain 25217958
nsv1063125 CNV loss 25217958
nsv576496 CNV gain 21841781

Variation tolerance for TUBB6 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.24; 5.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB6 Gene

Human Gene Mutation Database (HGMD)
TUBB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB6 Gene

Disorders for TUBB6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TUBB6 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
facial palsy, congenital, with ptosis and velopharyngeal dysfunction
  • fpvepd
ptosis
  • blepharoptosis
tubulin, beta
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
- elite association - COSMIC cancer census association via MalaCards
Search TUBB6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB6_HUMAN
  • Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732]: An autosomal dominant congenital disorder characterized by non-progressive bilateral facial palsy, velopharyngeal dysfunction presenting with varying degrees of hypomimia, rhinophonia and impaired gag reflex, and bilateral ptosis. {ECO:0000269 PubMed:29016863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TUBB6

genes like me logo Genes that share disorders with TUBB6: view

No data available for Genatlas for TUBB6 Gene

Publications for TUBB6 Gene

  1. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. (PMID: 29016863) Fazeli W … Heller R (Human molecular genetics 2017) 2 3 4 56
  2. 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 56
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56
  5. Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis. (PMID: 30575818) Tiemann K … Kani K (Oncogene 2019) 3 56

Products for TUBB6 Gene

Sources for TUBB6 Gene