TUBB4B tubulin beta 4B class IVb [Homo sapiens (human)] - Gene

Summary

Official Symbol: TUBB4Bprovided by HGNC
Official Full Name: tubulin beta 4B class IVbprovided by HGNC
Primary source: HGNC:HGNC:20771
See related: Ensembl:ENSG00000188229 MIM:602660; AllianceGenome:HGNC:20771
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Beta2; TUBB2; LCAEOD; TUBB2C
Summary: Enables double-stranded RNA binding activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Located in microtubule. Implicated in Leber congenital amaurosis with early-onset deafness. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 398.3), bone marrow (RPKM 175.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137241287..137243707)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149478956..149481376)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140135739..140138159)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
Title: TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness.
The authors uncovered that decomposition of microtubules associated with the decrease of TUBB4B protein observed during epithelial-mesenchymal transition of colon cancer cells is critical for the regulation of cell polarization and control of vimentin localization and function.
Title: TUBB4B Downregulation Is Critical for Increasing Migration of Metastatic Colon Cancer Cells.
nuclear beta(II)-tubulin can modulate Notch signaling through interaction with notch1 receptor intracellular domain in cancer cells
Title: Nuclear betaII-tubulin associates with the activated notch receptor to modulate notch signaling.
TUBB3 and TUBB4 are necessary for the transport and proper localization of N-cadherin within the plasma membrane.
Title: Tubulin beta 3 and 4 are involved in the generation of early fibrotic stages.
The authors identified TUBB4B mutations as the cause of a previously unreported autosomal-dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss.
Title: Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
The results od this study found that betaI-tubulin protein expression was decreased in the anterior cingulate cortex and increased in the dorsolateral prefrontal cortex, but not changed in superior temporal gyrus or hippocampus in schizophrenia.
Title: Regional differences in expression of β-tubulin isoforms in schizophrenia.
A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Data suggest that increased expression of hnRNP A1, Ezrin, tubulin beta-2C and Annexin A1 in SLNMM indicate a significantly elevated early colorectal cancer metastasis.
Title: Up-regulation of hnRNP A1, Ezrin, tubulin β-2C and Annexin A1 in sentinel lymph nodes of colorectal cancer.
Studies show that BFBTS bound and modified beta-tubulin at residue Cys12, forming beta-tubulin-SS-fluorobenzyl.
Title: Natural product derivative Bis(4-fluorobenzyl)trisulfide inhibits tumor growth by modification of beta-tubulin at Cys 12 and suppression of microtubule dynamics.
Annexin II and beta(2)-tubulin down-regulation is important in nasopharyngeal carcinoma formation and may represent potential targets for further investigations.
Title: Proteomic comparison of nasopharyngeal cancer cell lines C666-1 and NP69 identifies down-regulation of annexin II and beta2-tubulin for nasopharyngeal carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber congenital amaurosis with early-onset deafness MedGen: C4693498 OMIM: 617879 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1	PubMed
Pr55(Gag)	gag	Treatment of cells with actin-depolymerizing agents or tubulin polymerization inhibitors largely reduces the percentage of cells with capped HIV-1 Gag and Env, indicating an intact actin and tubulin cytoskeleton is required for efficient assembly of HIV-1	PubMed
Rev	rev	HIV-1 Rev interacting protein, TUBB2C, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells	PubMed
	rev	Rev acts to depolymerize microtubules that are formed by tubulin, an effect that is observed during HIV-1 infection	PubMed
Tat	tat	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	PubMed
	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
	tat	HIV-1 Tat (specifically, amino acids 38-72), enhances tubulin polymerization and triggers the mitochondrial pathway to induce T cell apoptosis as shown in vitro by the release of cytochrome c from isolated mitochondria	PubMed
	tat	HIV-1 Tat (amino acids 36-39) binds tubulin alpha/beta dimers and polymerized microtubules leading to the alteration of microtubule dynamics and activation of a mitochondria-dependent apoptotic pathway that is facilitated by the Bcl-2 relative Bim	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93426 (e-PCR)
- UniSTS:84608

DXS7003E (e-PCR)
- UniSTS:52357

RH71271 (e-PCR)
- UniSTS:50567

D9S188E (e-PCR)
- UniSTS:147339

MARC_5253-5254:996690193:1 (e-PCR)
- UniSTS:269473

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	TAS Traceable Author Statement more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in natural killer cell mediated cytotoxicity	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in azurophil granule lumen	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular vesicle	HDA more info	PubMed
located_in intercellular bridge	IDA Inferred from Direct Assay more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in mitotic spindle	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: tubulin beta-4B chain

Names: class IVb beta tubulin; epididymis secretory sperm binding protein; tubulin beta-2 chain; tubulin beta-2C chain; tubulin, beta 2C; tubulin, beta, 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.