Property Summary

NCBI Gene PubMed Count 50
Grant Count 124
R01 Count 65
Funding $18,192,727.27
PubMed Score 854.12
PubTator Score 69.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (53)

Disease Z-score Confidence
Dystonia 77 4.365 2.2
Cancer 2,346 4.219 2.1
Hypomyelinating leukoencephalopathy 6 3.863 1.9
Acute lymphoid leukemia 25
Anaplastic large T-cell systemic maligna... 10 
Burkitt's lymphoma 15
Carcinoma of breast 11
Carcinoma of female breast 20
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT ... 1 
Diffuse non-Hodgkin's lymphoma, large ce... 12 
Follicular non-Hodgkin's lymphoma 17
Gestational trophoblastic neoplasia 14
HER2-positive carcinoma of breast 10
Hodgkin's disease 18
Hypertensive disorder 58
Kaposi's sarcoma 20
Langerhans cell histiocytosis, dissemina... 10 
Leukodystrophy 30 4.0
Leukodystrophy, Hypomyelinating, 6 1
Liposarcoma 20
Malignant tumor of head and/or neck 15
Malignant tumor of ovary 25
Malignant tumor of prostate 11
Malignant tumor of stomach 12
Malignant tumor of testis 11
Metastatic Breast Carcinoma 21
Metastatic Prostate Carcinoma 18
Mycosis fungoides 28
Nephroblastoma 45
Neuroblastoma 78
Non-Hodgkin's lymphoma 22
Ocular hypertension 27
Open-angle glaucoma 26
Pick disease 1,893
Rhabdomyosarcoma 29
Secondary malignant neoplasm of pancreas 10
Transitional cell carcinoma 18
astrocytic glioma 2,241
atypical teratoid/rhabdoid tumor 1,095
colon cancer 1,475
ependymoma 2,514
glioblastoma 5,572
group 3 medulloblastoma 2,254
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
non-small cell lung cancer 2,798
oligodendroglioma 2,849
ovarian cancer 8,484
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primitive neuroectodermal tumor 3,031
psoriasis 6,685
subependymal giant cell astrocytoma 2,287

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma 2.300 0.000
astrocytic glioma -2.000 0.004
ependymoma -4.400 0.000
glioblastoma -3.200 0.000
oligodendroglioma -1.900 0.000
group 3 medulloblastoma -5.300 0.000
atypical teratoid/rhabdoid tumor -3.500 0.000
medulloblastoma, large-cell -2.900 0.000
primitive neuroectodermal tumor -2.000 0.015
colon cancer -3.200 0.024
pediatric high grade glioma -3.200 0.000
pilocytic astrocytoma -2.300 0.000
subependymal giant cell astrocytoma -4.359 0.022
Pick disease -1.300 0.030
ovarian cancer 1.400 0.000
psoriasis -1.300 0.000

Synonym

Accession P04350 B3KQP4 Q969E5
Symbols DYT4
TUBB4
beta-5

Gene

Gene RIF (31)

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
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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).
More...