CHMP2B Chromosome 3
Charged multivesicular body protein 2B
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What This Gene Does
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]
Gene Info
Gene Group
"Charged multivesicular body proteins|ESCRT-III"
Locus Type
gene with protein product
Location
3p11.2
Ensembl
ENSG00000083937
Associated Conditions (4)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
CHMP2B-related disorder
Amyotrophic lateral sclerosis
Cervical cancer
Key Variants
RS138886714
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS192188850
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS200322526
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS200792883
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Amyotrophic lateral sclerosis, CHMP2B-related disorder
Health Risk
RS374796686
Conflicting classifications of pathogenicity
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS63751126
Likely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS281864934
Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS63750355
Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
RS63750652
Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Cervical cancer, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138886714 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS192188850 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS200322526 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS200792883 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Amyotrophic lateral sclerosis, CHMP2B-related disorder |
| RS374796686 | Health Risk | Conflicting classifications of pathogenicity | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS63751126 | Health Risk | Likely pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS281864934 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS63750355 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
| RS63750652 | Health Risk | Pathogenic | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Cervical cancer, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |