CHMP4B - charged multivesicular body protein 4B Gene

Homo sapiens

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

Gene ID: 128866 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02644	CHMP4B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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