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Gene

CHMP2B

charged multivesicular body protein 2B

Summary

Cytogenetic location
3p11.2
Coordinates
Chromosome 3: 87,227,309–87,255,556 (GRCh38)
Exons
6 exons across 28.2 kb
Protein
213 amino acids
Inheritance
Autosomal dominant
Also known as
DKFZP564O123, CHMP2.5, VPS2B
MANE Select transcript
ENST00000263780.9NM_014043.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Frontotemporal Dementia

    • Autosomal dominant

      Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Frontotemporal Dementia and/or Amyotrophic Lateral SclerosisAutosomal dominant

      Umbrella term for the genetic frontotemporal dementia and ALS spectrum, including forms caused by C9orf72, TBK1, VCP, SQSTM1 and other genes.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CHMP2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where CHMP2B sits. CHMP2B and 2 genes near it on chromosome 3, from 86,741,433 to 87,741,432.Chromosome 33p11.2p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2986.8 Mb87 Mb87.2 Mb87.4 Mb87.6 MbVGLL3: 86,876,388–86,991,312, reverse strandVGLL3CHMP2B: 87,227,309–87,255,556, forward strandCHMP2BPOU1F1: 87,259,404–87,276,584, reverse strandPOU1F1Diagram of CHMP2B: 6 exons on the forward strand of chromosome 3Exon 6: 1 known disease-causing siteExon 1: 87,227,309–87,227,556, 248 basesExon 2: 87,240,699–87,240,790, 92 basesExon 3: 87,245,714–87,245,908, 195 basesExon 4: 87,249,875–87,249,977, 103 basesExon 5: 87,253,404–87,253,510, 107 basesExon 6: 87,253,712–87,255,556, 1,845 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.6 kb of the gene's 28.2 kb; 642 of those bases code for the protein.

How a genome test reads CHMP2B

1

position in CHMP2B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 28.2 kb of CHMP2B, introns included, not only the 2.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CHMP2B gene: charged multivesicular body protein 2B. Retrieved 16 October 2026, from https://dantelabs.com/genes/chmp2b

Vancouver

Dante Labs. CHMP2B gene: charged multivesicular body protein 2B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chmp2b

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