• Gene id: 25978

Gene Summary

• Gene Symbol: CHMP2B   Gene   UCSC   Ensembl
• Aliases: ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B
• Gene name: charged multivesicular body protein 2B
• Alternate names: charged multivesicular body protein 2b, VPS2 homolog B, chromatin modifying protein 2B, vacuolar protein-sorting-associated protein 2-2,
• Gene location: 3p11.2 (87227308: 87255555)     Exons: 7     NC_000003.12
• Gene summary(Entrez): 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 o
• OMIM: 609512

Protein Summary

• Protein general information: Q9UQN3  
  • Name: Charged multivesicular body protein 2b (CHMP2.5) (Chromatin modifying protein 2b) (CHMP2b) (Vacuolar protein sorting associated protein 2 2) (Vps2 2) (hVps2 2)
  • Length: 213  
  • Mass: 23907
  • Tissue specificity: 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 l
• Sequence:

  MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRT
  FAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIF
  DGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD

• Structural information:
  • Interpro: IPR005024  
  • PDB: 2JQK
  • PDBsum: 2JQK
  • DIP: 50766
  • STRING: ENSP00000263780
• Other Databases: GeneCards:  CHMP2B  Malacards:  CHMP2B

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Amyotrophic lateral sclerosis	KEGG:H00058
Frontotemporal lobar degeneration	KEGG:H00078
Amyotrophic lateral sclerosis	KEGG:H00058
Frontotemporal lobar degeneration	KEGG:H00078
Amyotrophic lateral sclerosis	PMID:16807408
Frontotemporal dementia	PMID:19202337
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881