Tubb2b tubulin, beta 2B class IIB [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tubb2bprovided by MGI
Official Full Name: tubulin, beta 2B class IIBprovided by MGI
Primary source: MGI:MGI:1920960
See related: Ensembl:ENSMUSG00000045136 AllianceGenome:MGI:1920960
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: brdp; 2410129E14Rik
Summary: Predicted to enable GTP binding activity and protein heterodimerization activity. Predicted to be a structural constituent of cytoskeleton. Involved in modulation of chemical synaptic transmission. Acts upstream of or within embryonic brain development. Located in Schaffer collateral - CA1 synapse. Is expressed in several structures, including brain; large intestine; lung; sensory organ; and thymus. Used to study complex cortical dysplasia with other brain malformations 7. Human ortholog(s) of this gene implicated in complex cortical dysplasia with other brain malformations 7. Orthologous to human TUBB2B (tubulin beta 2B class IIb). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 3958.4), whole brain E14.5 (RPKM 3057.3) and 4 other tissues See more
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Genomic context

Location:: 13 A3.3; 13 14.04 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (34310991..34314337, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (34127008..34130354, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that loss of Tubb2a or Tubb2b does not impair survival but does lead to relatively mild cortical malformation phenotypes. In contrast, loss of Tuba1a is perinatal lethal and leads to significant forebrain dysmorphology. The ability of the mouse to survive in the absence of some tubulin genes known to cause disease in humans suggests future intervention strategies for these devastating tubulinopathy diseases.
Title: Differential requirements of tubulin genes in mammalian forebrain development.
The data presented here demonstrate that a heterozygous Tubb2b brdp/+ mutation in mice leads to significant spatial learning and memory reductions and conditioned contextual, but not cued, fear deficits.
Title: A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.
study shows TUBB2B significantly upregulated in melanoma multinucleated giant cells, which indicates that it may play an important role in melanoma metastasis.
Title: Identification of the metastasis potential and its associated genes in melanoma multinucleated giant cells using the PHA-ECM830 fusion method.
Study showed that Tubb2b is expressed in Sox2- and Tbr2-positive neuronal progenitors and, at higher levels, in Dcx-positive postmitotic neurons in the developing mouse neocortex
Title: The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons.
Results show that the missense mutation at a highly conserved residue (N247S) in Tubb2b gene represents the most severely affected mouse tubulin phenotype involving neuronal proliferation and survival.
Title: A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU047860 (e-PCR)
- UniSTS:110104

MARC_24019-24020:1029775248:1 (e-PCR)
- UniSTS:268828

RH141109 (e-PCR)
- UniSTS:223105

Tubb2b (e-PCR), detects polymorphism
- UniSTS:532395

Tubb2 (e-PCR), detects polymorphism
- UniSTS:256696

MARC_26445-26446:1030655521:1 (e-PCR)
- UniSTS:268999

Gene Ontology Provided by MGI

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 metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based process	ISO Inferred from Sequence Orthology more info
involved_in mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuron migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of axon guidance	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in intercellular bridge	ISO Inferred from Sequence Orthology more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in microtubule	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in mitotic spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: tubulin beta-2B chain

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.