Hs04758063_cn

• Gene Symbol: CHMP2B
• Assay Reference Genome Location: Chr.3:87230520 on build GRCh38
• Cytoband: 3p11.2

Target Gene Details

• Entrez Gene ID: 25978
• Gene Name: charged multivesicular body protein 2B
• Gene Aliases: ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B
• Location: Chr.3:87227263-87255548 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHMP2B	NM_001244644.1			NP_001231573.1
	NM_014043.3			NP_054762.2
	AF151842.1			AAD34079.1
	AK002165.1
	AK002180.1
	AK222654.1			BAD96374.1
	AK296072.1
	AK316585.1
	AL080122.1			CAB45721.1
	BC001553.1			AAH01553.1
	BI821848.1
	BM828410.1
	CR533456.1			CAG38487.1
	DA426159.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv953231	Chr.3:87227951 - 87252550 on Build GRCh38	Duplication	CHMP2B
esv3568885	Chr.3:87182571 - 87518398 on Build GRCh38	Loss	MIR4795 CHMP2B POU1F1
nsv527279	Chr.3:86796784 - 87814130 on Build GRCh38	Gain	HTR1F MIR4795 CHMP2B POU1F1 LINC00506 VGLL3

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

cell separation after cytokinesis
autophagy
nucleus organization
endosome organization
mitotic metaphase plate congression
regulation of centrosome duplication
protein transport
endosomal transport
viral life cycle
multivesicular body assembly
viral budding via host ESCRT complex
cognition
neuron cellular homeostasis
multivesicular body sorting pathway
cell-cell adhesion
regulation of mitotic spindle assembly
positive regulation of viral release from host cell
ESCRT III complex disassembly

Function(s)

protein binding
protein domain specific binding
cadherin binding involved in cell-cell adhesion