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Protein

Charged multivesicular body protein 2b

Gene

CHMP2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB

GO - Biological processi

  • autophagy Source: ParkinsonsUK-UCL
  • cell separation after cytokinesis Source: UniProtKB
  • cognition Source: UniProtKB
  • endosomal transport Source: Reactome
  • endosome organization Source: UniProtKB
  • ESCRT III complex disassembly Source: ParkinsonsUK-UCL
  • mitotic metaphase plate congression Source: UniProtKB
  • multivesicular body assembly Source: ParkinsonsUK-UCL
  • multivesicular body-lysosome fusion Source: ParkinsonsUK-UCL
  • neuron cellular homeostasis Source: UniProtKB
  • nucleus organization Source: UniProtKB
  • positive regulation of viral release from host cell Source: UniProtKB
  • protein transport Source: UniProtKB-KW
  • regulation of centrosome duplication Source: UniProtKB
  • regulation of mitotic spindle assembly Source: UniProtKB
  • viral budding via host ESCRT complex Source: UniProtKB
  • viral life cycle Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-162588. Budding and maturation of HIV virion.
R-HSA-1632852. Macroautophagy.
R-HSA-917729. Endosomal Sorting Complex Required For Transport (ESCRT).

Names & Taxonomyi

Protein namesi
Recommended name:
Charged multivesicular body protein 2b
Alternative name(s):
CHMP2.5
Chromatin-modifying protein 2b
Short name:
CHMP2b
Vacuolar protein sorting-associated protein 2-2
Short name:
Vps2-2
Short name:
hVps2-2
Gene namesi
Name:CHMP2B
ORF Names:CGI-84
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:24537. CHMP2B.

Subcellular locationi

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • ESCRT III complex Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • intracellular Source: LIFEdb
  • late endosome membrane Source: UniProtKB-SubCell
  • mitochondrion Source: HPA
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Frontotemporal dementia, chromosome 3-linked (FTD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits.
See also OMIM:600795
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023383148D → Y in FTD3. 1 PublicationCorresponds to variant rs63750653dbSNPEnsembl.1
Amyotrophic lateral sclerosis 17 (ALS17)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency.
See also OMIM:614696
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03837329I → V in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A1 overall indicating a defect in the autophagic pathway. 2 PublicationsCorresponds to variant rs63750818dbSNPEnsembl.1
Natural variantiVAR_068689104T → N in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway. 1 PublicationCorresponds to variant rs281864934dbSNPEnsembl.1
Natural variantiVAR_038374206Q → H in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway. 2 PublicationsCorresponds to variant rs63751126dbSNPEnsembl.1

Keywords - Diseasei

Amyotrophic lateral sclerosis, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi25978.
MalaCardsiCHMP2B.
MIMi600795. phenotype.
614696. phenotype.
OpenTargetsiENSG00000083937.
Orphaneti803. Amyotrophic lateral sclerosis.
275864. Behavioral variant of frontotemporal dementia.
100070. Progressive non-fluent aphasia.
100069. Semantic dementia.
PharmGKBiPA142672112.

Polymorphism and mutation databases

BioMutaiCHMP2B.
DMDMi73917746.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002114692 – 213Charged multivesicular body protein 2bAdd BLAST212

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei199PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ9UQN3.
PaxDbiQ9UQN3.
PeptideAtlasiQ9UQN3.
PRIDEiQ9UQN3.

PTM databases

iPTMnetiQ9UQN3.
PhosphoSitePlusiQ9UQN3.

Expressioni

Tissue specificityi

Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal chord, occipital lobe, frontal lobe, temporal lobe and putamen.1 Publication

Gene expression databases

BgeeiENSG00000083937.
CleanExiHS_CHMP2B.
ExpressionAtlasiQ9UQN3. baseline and differential.
GenevisibleiQ9UQN3. HS.

Organism-specific databases

HPAiHPA035069.
HPA052754.

Interactioni

Subunit structurei

Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with CHMP2A. Interacts with VPS4A. Interacts with VPS4B; the interaction is direct.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CHMP3Q9Y3E72EBI-718324,EBI-2118119
CHMP4BQ9H4442EBI-718324,EBI-749627
TERF2IPQ9NYB02EBI-718324,EBI-750109

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • protein domain specific binding Source: UniProtKB

Protein-protein interaction databases

BioGridi117462. 45 interactors.
DIPiDIP-50766N.
IntActiQ9UQN3. 43 interactors.
MINTiMINT-1430090.
STRINGi9606.ENSP00000263780.

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi201 – 210Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JQKNMR-B195-213[»]
ProteinModelPortaliQ9UQN3.
SMRiQ9UQN3.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UQN3.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili25 – 55Sequence analysisAdd BLAST31

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi201 – 211MIT-interacting motifAdd BLAST11

Domaini

The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components (By similarity).By similarity

Sequence similaritiesi

Belongs to the SNF7 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3231. Eukaryota.
ENOG4111QA0. LUCA.
GeneTreeiENSGT00550000074737.
HOGENOMiHOG000177218.
HOVERGENiHBG102628.
InParanoidiQ9UQN3.
KOiK12192.
OMAiGKMANAP.
OrthoDBiEOG091G0S04.
PhylomeDBiQ9UQN3.
TreeFamiTF314163.

Family and domain databases

InterProiIPR005024. Snf7_fam.
[Graphical view]
PfamiPF03357. Snf7. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UQN3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASLFKKKTV DDVIKEQNRE LRGTQRAIIR DRAALEKQEK QLELEIKKMA
60 70 80 90 100
KIGNKEACKV LAKQLVHLRK QKTRTFAVSS KVTSMSTQTK VMNSQMKMAG
110 120 130 140 150
AMSTTAKTMQ AVNKKMDPQK TLQTMQNFQK ENMKMEMTEE MINDTLDDIF
160 170 180 190 200
DGSDDEEESQ DIVNQVLDEI GIEISGKMAK APSAARSLPS ASTSKATISD
210
EEIERQLKAL GVD
Length:213
Mass (Da):23,907
Last modified:May 1, 2000 - v1
Checksum:iBA192A0EAC45C19B
GO
Isoform 2 (identifier: Q9UQN3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-42: MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQL → M

Show »
Length:172
Mass (Da):19,100
Checksum:i4F61A1400473D9F6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti8K → R in CAB45721 (PubMed:11230166).Curated1
Sequence conflicti8K → R in CAG38487 (PubMed:14702039).Curated1
Sequence conflicti113N → S in BAD96374 (Ref. 5) Curated1
Sequence conflicti201E → V in CAB45721 (PubMed:11230166).Curated1
Sequence conflicti201E → V in CAG38487 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03837329I → V in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A1 overall indicating a defect in the autophagic pathway. 2 PublicationsCorresponds to variant rs63750818dbSNPEnsembl.1
Natural variantiVAR_068689104T → N in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway. 1 PublicationCorresponds to variant rs281864934dbSNPEnsembl.1
Natural variantiVAR_023383148D → Y in FTD3. 1 PublicationCorresponds to variant rs63750653dbSNPEnsembl.1
Natural variantiVAR_038374206Q → H in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway. 2 PublicationsCorresponds to variant rs63751126dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0451421 – 42MASLF…QEKQL → M in isoform 2. CuratedAdd BLAST42

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151842 mRNA. Translation: AAD34079.1.
AL080122 mRNA. Translation: CAB45721.1.
AK296072 mRNA. Translation: BAG58830.1.
CR533456 mRNA. Translation: CAG38487.1.
AK222654 mRNA. Translation: BAD96374.1.
AC123511 Genomic DNA. No translation available.
AC130885 Genomic DNA. No translation available.
BC001553 mRNA. Translation: AAH01553.1.
CCDSiCCDS2918.1. [Q9UQN3-1]
CCDS58840.1. [Q9UQN3-2]
PIRiT12468.
RefSeqiNP_001231573.1. NM_001244644.1. [Q9UQN3-2]
NP_054762.2. NM_014043.3. [Q9UQN3-1]
UniGeneiHs.476930.

Genome annotation databases

EnsembliENST00000263780; ENSP00000263780; ENSG00000083937. [Q9UQN3-1]
ENST00000471660; ENSP00000419998; ENSG00000083937. [Q9UQN3-2]
GeneIDi25978.
KEGGihsa:25978.
UCSCiuc003dqp.5. human. [Q9UQN3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151842 mRNA. Translation: AAD34079.1.
AL080122 mRNA. Translation: CAB45721.1.
AK296072 mRNA. Translation: BAG58830.1.
CR533456 mRNA. Translation: CAG38487.1.
AK222654 mRNA. Translation: BAD96374.1.
AC123511 Genomic DNA. No translation available.
AC130885 Genomic DNA. No translation available.
BC001553 mRNA. Translation: AAH01553.1.
CCDSiCCDS2918.1. [Q9UQN3-1]
CCDS58840.1. [Q9UQN3-2]
PIRiT12468.
RefSeqiNP_001231573.1. NM_001244644.1. [Q9UQN3-2]
NP_054762.2. NM_014043.3. [Q9UQN3-1]
UniGeneiHs.476930.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2JQKNMR-B195-213[»]
ProteinModelPortaliQ9UQN3.
SMRiQ9UQN3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117462. 45 interactors.
DIPiDIP-50766N.
IntActiQ9UQN3. 43 interactors.
MINTiMINT-1430090.
STRINGi9606.ENSP00000263780.

PTM databases

iPTMnetiQ9UQN3.
PhosphoSitePlusiQ9UQN3.

Polymorphism and mutation databases

BioMutaiCHMP2B.
DMDMi73917746.

Proteomic databases

EPDiQ9UQN3.
PaxDbiQ9UQN3.
PeptideAtlasiQ9UQN3.
PRIDEiQ9UQN3.

Protocols and materials databases

DNASUi25978.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263780; ENSP00000263780; ENSG00000083937. [Q9UQN3-1]
ENST00000471660; ENSP00000419998; ENSG00000083937. [Q9UQN3-2]
GeneIDi25978.
KEGGihsa:25978.
UCSCiuc003dqp.5. human. [Q9UQN3-1]

Organism-specific databases

CTDi25978.
DisGeNETi25978.
GeneCardsiCHMP2B.
GeneReviewsiCHMP2B.
HGNCiHGNC:24537. CHMP2B.
HPAiHPA035069.
HPA052754.
MalaCardsiCHMP2B.
MIMi600795. phenotype.
609512. gene.
614696. phenotype.
neXtProtiNX_Q9UQN3.
OpenTargetsiENSG00000083937.
Orphaneti803. Amyotrophic lateral sclerosis.
275864. Behavioral variant of frontotemporal dementia.
100070. Progressive non-fluent aphasia.
100069. Semantic dementia.
PharmGKBiPA142672112.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3231. Eukaryota.
ENOG4111QA0. LUCA.
GeneTreeiENSGT00550000074737.
HOGENOMiHOG000177218.
HOVERGENiHBG102628.
InParanoidiQ9UQN3.
KOiK12192.
OMAiGKMANAP.
OrthoDBiEOG091G0S04.
PhylomeDBiQ9UQN3.
TreeFamiTF314163.

Enzyme and pathway databases

ReactomeiR-HSA-162588. Budding and maturation of HIV virion.
R-HSA-1632852. Macroautophagy.
R-HSA-917729. Endosomal Sorting Complex Required For Transport (ESCRT).

Miscellaneous databases

ChiTaRSiCHMP2B. human.
EvolutionaryTraceiQ9UQN3.
GeneWikiiCHMP2B.
GenomeRNAii25978.
PROiQ9UQN3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000083937.
CleanExiHS_CHMP2B.
ExpressionAtlasiQ9UQN3. baseline and differential.
GenevisibleiQ9UQN3. HS.

Family and domain databases

InterProiIPR005024. Snf7_fam.
[Graphical view]
PfamiPF03357. Snf7. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCHM2B_HUMAN
AccessioniPrimary (citable) accession number: Q9UQN3
Secondary accession number(s): B4DJG8, Q53HC7, Q9Y4U6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 142 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.