| HGNC Family | Tubulins (TUB) |
| Name | tubulin, beta 4A class IVa |
| Description | This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTUBB4A encodes a brain‐specific β‐tubulin isoform that is a critical building block of microtubules, the dynamic cytoskeletal polymers essential for cell shape, neuro‐axonal transport, and cellular signaling. In the central nervous system, TUBB4A is highly expressed in neurons and myelinating cells, where it helps regulate microtubule polymerization, stability, and the proper assembly of α/β‐tubulin heterodimers. Mutations in TUBB4A underlie a continuum of neurological disorders—including isolated dystonia (DYT4) and hypomyelinating leukodystrophies with basal ganglia and cerebellar atrophy (H‐ABC)—by disrupting these fundamental cellular processes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, specific TUBB4A point mutations can perturb the interdimer interfaces or autoregulatory domains of the β‐tubulin protein, thereby altering its incorporation into microtubule polymers and impairing interactions with motor proteins. Such alterations have been shown to affect neurite outgrowth, mitochondrial transport, and microtubule dynamics in neuronal and glial cells. Systematic analyses—including studies in patient‐derived cells and live‐cell imaging in neuronal models—demonstrate that different TUBB4A mutations lead to distinct cellular defects, with some variants primarily impairing oligodendrocyte function and myelin gene expression while others predominantly disrupt neuronal morphology and intracellular trafficking."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "7", "end_ref": "19"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its central role in neurodevelopment, emerging evidence indicates that TUBB4A may influence additional cellular functions. For example, in non‐neuronal contexts its aberrant expression has been linked to altered cell migration, nuclear integrity during confined movement, and dysregulated signaling pathways such as NF‐κB. These findings broaden the clinical implications of TUBB4A dysfunction—not only contributing to classic leukodystrophies and movement disorders but also being implicated in disorders like hereditary spastic paraplegia and even in aspects of cancer cell biology. Investigations in diverse populations further underscore the phenotypic continuum of TUBB4A‐associated conditions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "20", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Joshua Hersheson, Niccolo E Mencacci, Mary Davis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.23832"}], "href": "https://doi.org/10.1002/ana.23832"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23424103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23424103"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Cas Simons, Nicole I Wolf, Nathan McNeil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.03.018"}], "href": "https://doi.org/10.1016/j.ajhg.2013.03.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23582646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23582646"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Katja Lohmann, Robert A Wilcox, Susen Winkler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.23829"}], "href": "https://doi.org/10.1002/ana.23829"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23595291"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23595291"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Bernard M H Law, Victoria A Spain, Veronica H L Leinster, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.507913"}], "href": "https://doi.org/10.1074/jbc.M113.507913"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24275654"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24275654"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Eline M Hamilton, Emiel Polder, Adeline Vanderver, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awu110"}], "href": "https://doi.org/10.1093/brain/awu110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24785942"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24785942"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddx338"}], "href": "https://doi.org/10.1093/hmg/ddx338"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28973395"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28973395"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Satya R Vemula, Jianfeng Xiao, Robert W Bastian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pathogenic variants in TUBB4A are not found in primary dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000000294"}], "href": "https://doi.org/10.1212/WNL.0000000000000294"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24598712"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24598712"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Carlos Ferreira, Andrea Poretti, Julie Cohen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.36526"}], "href": "https://doi.org/10.1002/ajmg.a.36526"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24706558"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24706558"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Satoko Miyatake, Hitoshi Osaka, Masaaki Shiina, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000000535"}], "href": "https://doi.org/10.1212/WNL.0000000000000535"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24850488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24850488"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Amy Pizzino, Tyler Mark Pierson, Yiran Guo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUBB4A de novo mutations cause isolated hypomyelination."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000000754"}], "href": "https://doi.org/10.1212/WNL.0000000000000754"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25085639"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25085639"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Roberto Erro, Joshua Hersheson, Christos Ganos, et al. "}, {"type": "b", "children": [{"type": "t", "text": "H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.26129"}], "href": "https://doi.org/10.1002/mds.26129"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25545912"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25545912"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Dahlia Kancheva, Teodora Chamova, Velina Guergueltcheva, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mov Disord (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mds.26196"}], "href": "https://doi.org/10.1002/mds.26196"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25772097"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25772097"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Michael Zech, Sylvia Boesch, Angela Jochim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Large-scale TUBB4A mutational screening in isolated dystonia and controls."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2015.08.017"}], "href": "https://doi.org/10.1016/j.parkreldis.2015.08.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26318963"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26318963"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Davide Tonduti, Chiara Aiello, Florence Renaldo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Paediatr Neurol (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejpn.2015.11.006"}], "href": "https://doi.org/10.1016/j.ejpn.2015.11.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26643067"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26643067"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Claudio M de Gusmão, Tania Fuchs, Andrew Moses, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Otolaryngol Head Neck Surg (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0194599816648293"}], "href": "https://doi.org/10.1177/0194599816648293"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27188707"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27188707"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Natsumi Watanabe, Misa Itakaoka, Yoich Seki, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2017.11.038"}], "href": "https://doi.org/10.1016/j.bbrc.2017.11.038"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29127012"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29127012"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Franca Vulinovic, Victor Krajka, Torben J Hausrat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23602"}], "href": "https://doi.org/10.1002/humu.23602"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30079973"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30079973"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Johanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61641"}], "href": "https://doi.org/10.1002/ajmg.a.61641"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32573057"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32573057"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Marta Lamartine S Monteiro, Isabelle Vandernoot, Laurence Desmyter, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13809"}], "href": "https://doi.org/10.1111/cge.13809"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32720309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32720309"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Francesco Gavazzi, Brittany A Charsar, Catherine Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Child Neurol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/08830738211000977"}], "href": "https://doi.org/10.1177/08830738211000977"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34514881"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34514881"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Avi Fellner, Yael Goldberg, Dorit Lev, et al. "}, {"type": "b", "children": [{"type": "t", "text": "In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-021-04337-x"}], "href": "https://doi.org/10.1038/s41598-021-04337-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34997144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34997144"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Victor Krajka, Franca Vulinovic, Mariya Genova, et al. "}, {"type": "b", "children": [{"type": "t", "text": "H-ABC- and dystonia-causing "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "TUBB4A"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " mutations show distinct pathogenic effects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.abj9229"}], "href": "https://doi.org/10.1126/sciadv.abj9229"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35275727"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35275727"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Song Gao, Shuaibin Wang, Zhiying Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3β/β-catenin signalling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-022-30409-1"}], "href": "https://doi.org/10.1038/s41467-022-30409-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35589707"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35589707"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Zixuan Ying, Xi Cheng, Xiaoquan Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3760/cma.j.cn511374-20201215-00879"}], "href": "https://doi.org/10.3760/cma.j.cn511374-20201215-00879"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36972930"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36972930"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Divyani Garg, Vikram V Holla, Jacky Ganguly, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2024.107012"}], "href": "https://doi.org/10.1016/j.parkreldis.2024.107012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38762926"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38762926"}]}]}]}
|
| Synonyms | BETA-5, DYT4 |
| Proteins | TBB4A_HUMAN |
| NCBI Gene ID | 10382 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
TUBB4A has 6,271 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 106 datasets.
Click the + buttons to view associations for TUBB4A from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by TUBB4A gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TUBB4A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of TUBB4A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TUBB4A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of TUBB4A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of TUBB4A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TUBB4A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TUBB4A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of TUBB4A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of TUBB4A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of TUBB4A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with TUBB4A protein from the CCLE Cell Line Proteomics dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TUBB4A gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TUBB4A gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of TUBB4A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TUBB4A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with TUBB4A gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with TUBB4A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TUBB4A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TUBB4A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of TUBB4A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with TUBB4A gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| CTD Gene-Disease Associations | diseases associated with TUBB4A gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of TUBB4A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by TUBB4A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TUBB4A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TUBB4A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with TUBB4A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with TUBB4A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TUBB4A gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TUBB4A gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of TUBB4A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing TUBB4A from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with TUBB4A gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing TUBB4A from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of TUBB4A gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving TUBB4A gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving TUBB4A gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TUBB4A gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing TUBB4A protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing TUBB4A protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing TUBB4A protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2015 | molecular functions performed by TUBB4A gene from the curated GO Molecular Function Annotations 2015 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by TUBB4A gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by TUBB4A gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TUBB4A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TUBB4A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TUBB4A gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with TUBB4A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of TUBB4A gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of TUBB4A gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of TUBB4A protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TUBB4A gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of TUBB4A protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with TUBB4A gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for TUBB4A from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with TUBB4A gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by TUBB4A gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for TUBB4A protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TUBB4A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TUBB4A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TUBB4A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| KEA Substrates of Kinases | kinases that phosphorylate TUBB4A protein from the curated KEA Substrates of Kinases dataset. | |
| KEGG Pathways 2026 | pathways involving TUBB4A protein from the KEGG Pathways 2026 dataset. | |
| Kinase Library Serine Threonine Kinome Atlas | kinases that phosphorylate TUBB4A protein from the Kinase Library Serine Threonine Atlas dataset. | |
| Kinase Library Tyrosine Kinome Atlas | kinases that phosphorylate TUBB4A protein from the Kinase Library Tyrosine Kinome Atlas dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of TUBB4A gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of TUBB4A gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of TUBB4A gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of TUBB4A gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain TUBB4A protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by TUBB4A gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting TUBB4A gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of TUBB4A gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of TUBB4A gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with TUBB4A gene from the curated OMIM Gene-Disease Associations dataset. | |
| PANTHER Pathways | pathways involving TUBB4A protein from the PANTHER Pathways dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for TUBB4A from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TUBB4A gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of TUBB4A gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving TUBB4A protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving TUBB4A protein from the Wikipathways PFOCR 2024 dataset. | |
| Phosphosite Textmining Biological Term Annotations | biological terms co-occuring with TUBB4A protein in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset. | |
| ProteomicsDB Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of TUBB4A protein relative to other cell types and tissues from the ProteomicsDB Cell Type and Tissue Protein Expression Profiles dataset. | |
| Reactome Pathways 2014 | pathways involving TUBB4A protein from the Reactome Pathways dataset. | |
| Reactome Pathways 2024 | pathways involving TUBB4A protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of TUBB4A gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TUBB4A gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TUBB4A gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TUBB4A gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TUBB4A gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with TUBB4A protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of TUBB4A gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of TUBB4A gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of TUBB4A gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TUBB4A gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TUBB4A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TUBB4A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TUBB4A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2014 | pathways involving TUBB4A protein from the Wikipathways Pathways 2014 dataset. | |
| WikiPathways Pathways 2024 | pathways involving TUBB4A protein from the WikiPathways Pathways 2024 dataset. | |
