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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHMP2B Gene

protein-coding GIFtS: 63
GCID: GC03P087360

charged multivesicular body protein 2B

(Previous name: chromatin modifying protein 2B )

Explore 15 diseases affiliated with
CHMP2B via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Charged Multivesicular Body Protein 2B¹ ²		Vacuolar Protein-Sorting-Associated Protein 2-2²
CHMP2.5¹ ² ³		VPS2 Homolog B²
VPS2B¹ ² ⁵		CHMP2b³
Chromatin Modifying Protein 2B¹ ²		Vps2-2³
DMT1² ⁵		Chromatin-Modifying Protein 2b³
DKFZP564O123¹		HVps2-2¹
ALS17²		Vacuolar Protein Sorting-Associated Protein 2-2³
VPS2-2²

External Ids:	HGNC: 24537¹	Entrez Gene: 25978²	Ensembl: ENSG00000083937⁷	OMIM: 609512⁵	UniProtKB: Q9UQN3³

Export aliases for CHMP2B gene to outside databases

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHMP2B:

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport

III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the

concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by

this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is

expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial

frontotemporal lobar degeneration. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3

Function: 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

Gene Wiki entry for CHMP2B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022459.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHMP2B gene promoter:
USF1 POU3F1 USF2 POU3F2 (N-Oct-5a) USF-1:USF-2 POU3F2 AREB6 USF-1 Sox9 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHMP2B promoter sequence

Search SABiosciences Chromatin IP Primers for CHMP2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p11.2 Ensembl cytogenetic band: 3p11.2 HGNC cytogenetic band: 3p12.1

CHMP2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP2B gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P087360: view genomic region (about GC identifiers)

Start:	87,276,413 bp from pter	End:	87,304,698 bp from pter
Size:	28,286 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3 (See protein sequence)

Recommended Name: Charged multivesicular body protein 2b

Size: 213 amino acids; 23907 Da

Subunit: 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

Subcellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable)

1 PDB 3D structure from and Proteopedia for CHMP2B:

2JQK (3D)

Secondary accessions: B4DJG8 Q53HC7 Q9Y4U6

Alternative splicing: 2 isoforms: Q9UQN3-1 Q9UQN3-2

Explore the universe of human proteins at neXtProt for CHMP2B: NX_Q9UQN3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UQN3

CHMP2B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001231573.1 NP_054762.2

ENSEMBL proteins:

ENSP00000419998 ENSP00000263780 ENSP00000418920

Reactome Protein details: Q9UQN3
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for CHMP2B
	GenScript Custom Purified and Recombinant Proteins Services for CHMP2B
	Novus Biologicals CHMP2B Proteins
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for CHMP2B
	Uscn Proteins for CHMP2B

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IDA	--
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005829	cytosol	TAS	--

CHMP2B for ontologies About GeneDecksing

CHMP2B Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CHMP2B
	R&D Systems Antibodies for CHMP2B
	Browse OriGene Antibodies OriGene Custom Antibody Services for CHMP2B
	GenScript Custom Superior Antibodies Services for CHMP2B
	Novus Biologicals CHMP2B Antibodies
	Abcam antibodies for CHMP2B
	Uscn Antibodies for CHMP2B
	Search ThermoFisher Antibodies for CHMP2B

Assay Products for CHMP2B:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CHMP2B
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CHMP2B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHMP2B for domains About GeneDecksing

1 InterPro domain/family:

IPR005024 Snf7

Graphical View of Domain Structure for InterPro Entry Q9UQN3

ProtoNet protein and cluster: Q9UQN3

1 Blocks protein family: IPB005024 Eukaryotic protein of unknown function DUF279

UniProtKB/Swiss-Prot: CHM2B_HUMAN, Q9UQN3

Domain: 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)

Similarity: Belongs to the SNF7 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: