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Gene : CHMP2B Homo sapiens

Name  ? charged multivesicular body protein 2B Cytological Location  3p11.2
Brief Description  charged multivesicular body protein 2B
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. [provided by RefSeq, Jul 2008]
  • synonyms:
  • VPS2B,
  • VPS2-2,
  • CHMP2.5,
  • VPS2B,
  • DMT1,
  • CHMP2.5,
  • chromatin modifying protein 2B,
  • VPS2 homolog B (S. cerevisiae),
  • OTTHUMG00000158982,
  • BC001553,
  • DKFZP564O123,
  • HGNC:24537,
  • ALS17,
  • CHMP2B,
  • NM_014043,
  • uc003dqp.5
  • identifiers:
  • 25978,
  • ENSG00000083937,
  • CHMP2B

Genome feature

Region: gene ? Length: 28286  
Location: 3:87227263-87255548 Cyto location: 3p11.2


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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

2011 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results