Property Summary

NCBI Gene PubMed Count 50
PubMed Score 854.12
PubTator Score 69.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Dystonia 77 4.365 2.2
Leukodystrophy 30 0.0 4.0
Disease Target Count Z-score Confidence
Cancer 2346 4.219 2.1
Hypomyelinating leukoencephalopathy 6 3.863 1.9

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma 2.300 6.9e-07
astrocytic glioma -2.000 4.3e-03
ependymoma -4.400 1.3e-19
glioblastoma -3.200 1.6e-07
oligodendroglioma -1.900 7.6e-11
group 3 medulloblastoma -5.300 5.0e-07
atypical teratoid/rhabdoid tumor -3.500 2.2e-10
medulloblastoma, large-cell -2.900 7.6e-05
primitive neuroectodermal tumor -2.000 1.5e-02
colon cancer -3.200 2.4e-02
pediatric high grade glioma -3.200 1.5e-06
pilocytic astrocytoma -2.300 1.8e-05
subependymal giant cell astrocytoma -4.359 2.2e-02
Pick disease -1.300 3.0e-02
ovarian cancer 1.400 1.2e-09
psoriasis -1.300 7.1e-25

Gene RIF (30)

PMID Text
26643067 TUBB4A-mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression
26375501 a paclitaxel-resistant beta-tubulin isotype, betaIVa-tubulin, was the most up-regulated gene compared with other beta-tubulin isotypes in H460 floating cells, concomitant with elevated ERK activation
26318963 our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients
25772097 The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders.
25545912 Data suggested H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations.
25085639 Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum.
24850488 TUBB4A mutations cause typical hypomyelinating leukoencephalopathies.
24785942 This study demonistrated that Hypomyelination with atrophy of the basal ganglia and cerebellum with TUBB4A mutation.
24706558 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
24598712 The c.4C>G DYT4 mutation appears to be private, and clinical testing for TUBB4A mutations is not justified in spasmodic dysphonia or other forms of primary dystonia
24275654 Data indicate that leucine-rich repeat kinase 2 (LRRK2) selectively interacts with three beta-tubulin isoforms: TUBB, TUBB4, and TUBB6.
23826228 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
23595291 This study provided strong evidence supporting the causative role of a mutation in TUBB4, altering a highly conserved and functionally important amino acid, in DYT4 dystonia.
23582646 A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
23424103 This study demonistrated that TUBB4A mutation in the autoregulatory domain cause hereditary dystonia.
23190606 Destruction of the beta-tubulin:CCT-beta complex provokes Hsp90-dependent protein ubiquitination and degradation.
22174317 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
21956287 DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. Phenotypic expression is variable, ranging from isolated spasmodic dysphonia (often with mild craniocervical dystonia) to severe generalized dystonia.
21839816 Data show six differentially expressed proteins were identified as HSP70, PPIA and alpha-Enolase (up-regulated) S100-A9, PIMT and beta-5 tubulin (down-regulated), most of which had been shown to play a potential role in the pathogenesis of atherosclerosis.
19773279 Observational study of gene-disease association. (HuGE Navigator)
19299461 Suggest that nuclear accumulation of soluble tubulin is part of an intrinsic defense mechanism, which tends to limit cell proliferation under pathological conditions.
18613978 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
18553364 The results provide the first evidence that a specific isoform of beta-tubulin is required for mitosis.
17360745 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
16526095 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
15698476 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
15691386 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
15331610 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
12486001 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type
10908577 HIV-1 Tat K29A, K50R, and K51R lysine mutations downregulate the proportion of soluble tubulin in cells, while the majority of other lysine mutations upregulate the percentage of soluble tubulin compared with the wild-type

AA Sequence

MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYVPRAVLVDLEP      1 - 70
GTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVVRKEAESCDCLQGFQLTHSLG     71 - 140
GGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDI    141 - 210
CFRTLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQ    211 - 280
YRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVK    281 - 350
TAVCDIPPRGLKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS    351 - 420
EYQQYQDATAEEGEFEEEAEEEVA                                                  421 - 444
//

Text Mined References (54)

PMID Year Title
26875866 2016 Graded Control of Microtubule Severing by Tubulin Glutamylation.
26643067 2016 TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
26375501 2015 Non-adherent culture induces paclitaxel resistance in H460 lung cancer cells via ERK-mediated up-regulation of ?IVa-tubulin.
26318963 2015 Large-scale TUBB4A mutational screening in isolated dystonia and controls.
25772097 2015 Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
25545912 2015 H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
25085639 2014 TUBB4A de novo mutations cause isolated hypomyelination.
24850488 2014 Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies.
24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
24706558 2014 Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
24598712 2014 Pathogenic variants in TUBB4A are not found in primary dystonia.
24275654 2014 A direct interaction between leucine-rich repeat kinase 2 and specific ?-tubulin isoforms regulates tubulin acetylation.
23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
23582646 2013 A de novo mutation in the ?-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23424103 2013 Mutations in the autoregulatory domain of ?-tubulin 4a cause hereditary dystonia.
23190606 2012 Targeting ?-tubulin:CCT-? complexes incurs Hsp90- and VCP-related protein degradation and induces ER stress-associated apoptosis by triggering capacitative Ca2+ entry, mitochondrial perturbation and caspase overactivation.
21956287 2011 Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
21839816 2011 Pentoxifylline administration changes protein expression profile of coronary artery disease patients.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21525035 2011 PEX14 is required for microtubule-based peroxisome motility in human cells.
21269460 2011 Initial characterization of the human central proteome.
20195357 2010 A comprehensive resource of interacting protein regions for refining human transcription factor networks.
20191564 2010 Tumoral and tissue-specific expression of the major human beta-tubulin isotypes.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19524510 2009 Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation.
19299461 2009 Nucleocytoplasmic shuttling of soluble tubulin in mammalian cells.
18553364 2008 A minor beta-tubulin essential for mammalian cell proliferation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17627938 2007 Heightened sensitivity to paclitaxel in Class IVa beta-tubulin-transfected cells is lost as expression increases.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16462731 2006 The PITSLRE/CDK11p58 protein kinase promotes centrosome maturation and bipolar spindle formation.
16371510 2006 Microtubule regulation in mitosis: tubulin phosphorylation by the cyclin-dependent kinase Cdk1.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15324660 2004 Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization.
15188402 2004 Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry.
15121898 2004 The composition of Staufen-containing RNA granules from human cells indicates their role in the regulated transport and translation of messenger RNAs.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12852856 2003 Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation.
12840015 2003 Nuclear coactivator-62 kDa/Ski-interacting protein is a nuclear matrix-associated coactivator that may couple vitamin D receptor-mediated transcription and RNA splicing.
12486001 2002 HIV-1 Tat targets microtubules to induce apoptosis, a process promoted by the pro-apoptotic Bcl-2 relative Bim.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12221128 2002 Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex.
11120798 2000 HLA-B2702 (77-83/83-77) peptide binds to beta-tubulin on human NK cells and blocks their cytotoxic capacity.
11076968 2000 The centrosomal protein C-Nap1 is required for cell cycle-regulated centrosome cohesion.
10908577 2000 HIV-1 rev depolymerizes microtubules to form stable bilayered rings.
8653701 1996 Increase of beta(III)- and beta(IVa)-tubulin isotopes in human prostate carcinoma cells as a result of estramustine resistance.
8619814 1996 C-terminal fragments of alpha- and beta-tubulin form amyloid fibrils in vitro and associate with amyloid deposits of familial cerebral amyloid angiopathy, British type.
8432555 1993 Evidence for locus heterogeneity in autosomal dominant torsion dystonia.
7790358 1995 Cell cycle regulation of the activity and subcellular localization of Plk1, a human protein kinase implicated in mitotic spindle function.
6865944 1983 Identification of two human beta-tubulin isotypes.
6462917 1984 Sequence of an expressed human beta-tubulin gene containing ten Alu family members.
3782288 1986 The mammalian beta-tubulin repertoire: hematopoietic expression of a novel, heterologous beta-tubulin isotype.