Chmp2b charged multivesicular body protein 2B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chmp2bprovided by MGI
Official Full Name: charged multivesicular body protein 2Bprovided by MGI
Primary source: MGI:MGI:1916192
See related: Ensembl:ENSMUSG00000004843 AllianceGenome:MGI:1916192
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1190006E07Rik
Summary: Predicted to enable protein domain specific binding activity. Predicted to be involved in several processes, including midbody abscission; regulation of cell cycle process; and regulation of synapse organization. Predicted to be located in cytosol. Predicted to be part of ESCRT III complex. Predicted to be active in multivesicular body. Predicted to colocalize with late endosome; lysosome; and plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; spleen; and vibrissa. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; chromosome 3-linked frontotemporal dementia; and frontotemporal dementia. Orthologous to human CHMP2B (charged multivesicular body protein 2B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 28.8), duodenum adult (RPKM 25.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C1.3; 16 37.26 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (65336014..65359648, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (65539128..65562762, complement)

Chromosome 16 - NC_000082.7 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?

Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2B(intron5) Mutant in a Mouse Model of ALS-FTD Syndrome.
Title: Alteration of the Neuromuscular Junction and Modifications of Muscle Metabolism in Response to Neuron-Restricted Expression of the CHMP2B(intron5) Mutant in a Mouse Model of ALS-FTD Syndrome.
A novel synaptopathy-defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia.
Title: A novel synaptopathy-defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia.
Longitudinal transcriptomic analysis of altered pathways in a CHMP2B(intron5)-based model of ALS-FTD.
Title: Longitudinal transcriptomic analysis of altered pathways in a CHMP2B(intron5)-based model of ALS-FTD.
Results suggest dysregulation of CHMP2B together with tau-pathology and possibly a disturbance of the regulation of vesicular compartments. The absence of combined Abeta- and tau-associated pathology in the transgenic mice may account for the difference in CHMP2B-immunoreactivity between the transgenic mice and human hippocampus.
Title: Effect of tau-pathology on charged multivesicular body protein 2b (CHMP2B).
Data show that the frontotemporal dementia (FTD)-causing C-terminal truncation of CHMP2B results in dendritic endolysosomal trafficking defects. Strikingly, we found that this trafficking defect could be rescued by the knockdown of the FTD risk factor Tmem106b.
Title: Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
The pro-apoptotic JNK scaffold protein POSH mediates CHMP2BIntron5-associated toxicity in animal models of frontotemporal dementia.
Title: The pro-apoptotic JNK scaffold POSH/SH3RF1 mediates CHMP2BIntron5-associated toxicity in animal models of frontotemporal dementia.
The presence of early microglial changes in our CHMP2B mutant mice indicates neuroinflammation may be a contributing factor to the neurodegeneration observed in FTD.
Title: Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Study showed that mutant CHMP2B causes the pathological accumulation of endolysosomal components early in the frontotemporal dementia disease course
Title: Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
This study showing that CHMP2B resides at synapses and is involved in synaptic plasticity.
Title: Regulation of postsynaptic function by the dementia-related ESCRT-III subunit CHMP2B.
Forebrain-specific expression of frontotemporal dementia-associated mutant CHMP2B in mice causes several age-dependent neurodegenerative phenotypes, including social behavioral impairments.
Title: Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Gene trapped (1)
Targeted (1) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in autophagosome maturation	ISO Inferred from Sequence Orthology more info
involved_in autophagy	ISO Inferred from Sequence Orthology more info
involved_in cognition	ISO Inferred from Sequence Orthology more info
involved_in endosome organization	ISO Inferred from Sequence Orthology more info
involved_in endosome transport via multivesicular body sorting pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in late endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in late endosome to vacuole transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fission	NAS Non-traceable Author Statement more info	PubMed
involved_in midbody abscission	ISO Inferred from Sequence Orthology more info
involved_in mitotic metaphase chromosome alignment	ISO Inferred from Sequence Orthology more info
involved_in modulation of chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in multivesicular body assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in multivesicular body sorting pathway	ISO Inferred from Sequence Orthology more info
involved_in multivesicular body-lysosome fusion	NAS Non-traceable Author Statement more info	PubMed
involved_in neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane reassembly	ISO Inferred from Sequence Orthology more info
involved_in nucleus organization	ISO Inferred from Sequence Orthology more info
involved_in plasma membrane repair	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of centrosome duplication	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic spindle assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of modification of postsynaptic structure	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynapse organization	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	ISO Inferred from Sequence Orthology more info
involved_in vacuolar transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle fusion with vacuole	NAS Non-traceable Author Statement more info	PubMed
involved_in viral budding from plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in viral budding via host ESCRT complex	ISO Inferred from Sequence Orthology more info
involved_in viral release from host cell	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of ESCRT III complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESCRT III complex	ISO Inferred from Sequence Orthology more info
located_in amphisome membrane	ISO Inferred from Sequence Orthology more info
located_in autophagosome membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
colocalizes_with endosome	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in kinetochore	ISO Inferred from Sequence Orthology more info
located_in kinetochore microtubule	ISO Inferred from Sequence Orthology more info
colocalizes_with late endosome	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
colocalizes_with lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in midbody	ISO Inferred from Sequence Orthology more info
is_active_in multivesicular body	IBA Inferred from Biological aspect of Ancestor more info
located_in multivesicular body membrane	ISO Inferred from Sequence Orthology more info
part_of nuclear pore	ISO Inferred from Sequence Orthology more info
colocalizes_with plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: charged multivesicular body protein 2b

Names: chromatin modifying protein 2B

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.