CHMP4B - charged multivesicular body protein 4B Gene

Also Known as SNF7; CTPP3; Shax1; CHMP4A; SNF7-2; VPS32B; CTRCT31; Vps32-2; C20orf178; dJ553F4.4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 128866

About CHMP4B

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:33,811,348-33,854,366 (from NCBI)

This gene has 1 transcript (splice variant), 300 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues.

Summary

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These Polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4B Products (1)

mRNA	Protein	Name
NM_176812.5	NP_789782.1	charged multivesicular body protein 4b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16730941	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12860994	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	14519844	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in exit from mitosis	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in late endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in maintenance of lens transparency	IMP IMP: Inferred from mutant phenotype	17701905	GOA
involved in membrane fission	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	16554368	GOA
involved in multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	24482116	GOA
involved in post-translational protein targeting to endoplasmic reticulum membrane	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in protein polymerization	IDA IDA: Inferred from direct assay	18209100	GOA
involved in regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	17984323	GOA
involved in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	22547407	GOA
involved in viral budding	IMP IMP: Inferred from mutant phenotype	17701905	GOA
involved in viral budding from plasma membrane	IDA IDA: Inferred from direct assay	24878737	GOA
involved in viral budding from plasma membrane	IMP IMP: Inferred from mutant phenotype	14505570	GOA
involved in viral budding via host ESCRT complex	IDA IDA: Inferred from direct assay	24878737	GOA
involved in viral budding via host ESCRT complex	IGI IGI: Inferred from genetic interaction	24107264	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ESCRT III complex	IDA IDA: Inferred from direct assay	18209100	GOA
located in amphisome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in autophagosome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17701905	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	18209100	GOA
located in endosome	IDA IDA: Inferred from direct assay	17701905	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	26040712	GOA
located in kinetochore microtubule	IDA IDA: Inferred from direct assay	26040712	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	17984323	GOA
part of membrane coat	IDA IDA: Inferred from direct assay	24878737	GOA
located in midbody	IDA IDA: Inferred from direct assay	21310966	GOA
located in multivesicular body membrane	IDA IDA: Inferred from direct assay	16554368	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	26040712	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	26040713	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21975012	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24878737	GOA
located in vesicle	IDA IDA: Inferred from direct assay	25468996	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHMP4B Protein Structure

Snf7

0
100
200
224 a.a.

Protein Preferred Names	Protein Names
charged multivesicular body protein 4b	SNF7 homolog associated with Alix 1

CHMP4B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHMP4B	Q9H444	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	CHMP4B	Q9H444	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	CHMP4B	Q9H444	CHMP4A	Homo sapiens	Q9BY43-2	Y2H Array	32296183
Intra	CHMP4B	Q9H444	CHMP4A	Homo sapiens	Q9BY43-2	Y2H Prey Pooling	32296183
Intra	CHMP4B	Q9H444	CHMP3	Homo sapiens	Q9Y3E7	Anti Tag CoIP	26496610
Intra	CHMP4B	Q9H444	CHMP3	Homo sapiens	Q9Y3E7	SPR	23051622
Intra	CHMP4B	Q9H444	CHMP3	Homo sapiens	Q9Y3E7	Y2H	16730941
Intra	CHMP4B	Q9H444	CHMP2A	Homo sapiens	O43633	SPR	23051622
Intra	CHMP4B	Q9H444	CHMP2A	Homo sapiens	O43633	Anti Tag CoIP	26496610
Intra	CHMP4B	Q9H444	PDCD6IP	Homo sapiens	Q8WUM4	FPS	22484091
Intra	CHMP4B	Q9H444	PDCD6IP	Homo sapiens	Q8WUM4	Anti Tag CoIP	26496610
Intra	CHMP4B	Q9H444	PDCD6IP	Homo sapiens	Q8WUM4	Pull Down	18434552
Intra	CHMP4B	Q9H444	STAMBP	Homo sapiens	O95630	Y2H	17711858
Intra	CHMP4B	Q9H444	STAMBP	Homo sapiens	O95630	Y2H	16730941
Intra	CHMP4B	Q9H444	HTT	Homo sapiens	P42858	Y2H	17500595
Intra	CHMP4B	Q9H444	CC2D1A	Homo sapiens	Q6P1N0	Anti Tag CoIP	26496610
Intra	CHMP4B	Q9H444	CC2D1A	Homo sapiens	Q6P1N0	Anti Tag CoIP	35271311
Intra	CHMP4B	Q9H444	CHMP2B	Homo sapiens	Q9UQN3	Anti Tag CoIP	26496610
Intra	CHMP4B	Q9H444	CHMP2B	Homo sapiens	Q9UQN3	SPR	23051622
Intra	CHMP4B	Q9H444	PTPN23	Homo sapiens	Q9H3S7	Y2H	17174262
Intra	CHMP4B	Q9H444	PTPN23	Homo sapiens	Q9H3S7	Pull Down	18434552
Intra	CHMP4B	Q9H444	PLIN3	Homo sapiens	O60664	Y2H Array	32296183
Intra	CHMP4B	Q9H444	PLIN3	Homo sapiens	O60664	Y2H Prey Pooling	32296183
Intra	CHMP4B	Q9H444	CHMP4A	Homo sapiens	Q9BY43	Y2H	16730941
Intra	CHMP4B	Q9H444	CHMP7	Homo sapiens	Q8WUX9	Confocal	16856878
Intra	CHMP4B	Q9H444	CHMP5	Homo sapiens	Q9NZZ3	Y2H	16730941
Intra	CHMP4B	Q9H444	CHMP5	Homo sapiens	Q9NZZ3	Anti Tag CoIP	26496610

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cataract 31, Multiple Types	Cataract, Posterior Polar, 3 Ctpp3 Cataract 31 Multiple Types CTRCT31 Cpp3 Posterior Polar Cataract 3 Cataract, Type 31, Multiple Types
Early-Onset Posterior Subcapsular Cataract
Early-Onset Posterior Polar Cataract
Cataract 32, Multiple Types	Cataract, Posterior Polar, 5 Ctpp5 CTRCT32 Ctaa1 Cataract, Anterior Polar Cap Cataract 32 Multiple Types Cataract, Anterior Polar, 1 Anterior Polar Cataract 1 Posterior Polar Cataract 5 Cataract, Anterior Polar 1
Posterior Polar Cataract	Cataract, Posterior Polar
Cataract 16, Multiple Types	Cataract 16 Multiple Types CTRCT16 Ctpp2 Cataract, Posterior Polar, 2 Posterior Polar Cataract 2 Cataract, Congenital Lamellar Congenital Lamellar Cataract
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Deprivation Amblyopia	Disuse Amblyopia Stimulus Deprivation Amblyopia
Cataract 11, Multiple Types	Cataract, Posterior Polar, 4 Ctpp4 Cpp4 Cataract 11 Multiple Types CTRCT11 Cataract 11, Syndromic, Autosomal Recessive Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities Posterior Polar Cataract 4 Posterior Polar Cataract, 4 Cataract Posterior Polar 4 Syndromic Cataract 11 Cataract, Type 11, Multiple Types
Ayme-Gripp Syndrome	AYGRP Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation Aymé-Gripp Syndrome Fine-Lubinsky Syndrome Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02643	CHMP4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02644	CHMP4B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21837	Chmp4b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CHMP4B	VGNC	VGNC:84577
Felis catus	CHMP4B	VGNC	VGNC:80064
Mus musculus	CHMP4B	MGD	MGI:1922858
Bos taurus	CHMP4B	VGNC	VGNC:56180
Rattus norvegicus	CHMP4B	RGD	RGD:1309846
Canis familiaris	CHMP4B	VGNC	VGNC:54643
Others	CHMP4B	NCBI