Charged Multivesicular Body Protein 2B

Alternative Names

  • CHMP2B
  • CHMP Family, Member 2B
  • Chromatin-Modifying Protein 2B
  • Vacuolar Protein Sorting 2, Yeast, Homolog of, B
  • VPS2B
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OMIM Number

609512

NCBI Gene ID

25978

Uniprot ID

Q9UQN3

Length

28,248 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Charged multivesicular body protein 2b

Molecular Mass

23907 Da

Amino Acid Count

213

Genomic Location

chr3:87,227,309-87,255,556

Gene Map Locus
3p11.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_014043.4:c.85A>GSaudi ArabiaNC_000003.12:g.87240749A>GPathogenic, Uncertain SignificanceLikely PathogenicFrontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7NG_007885.1:g.18487A>G; NM_014043.4:c.85A>G; NP_054762.2:p.Ile29Val6375081821507
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