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Gene : CHMP4B Homo sapiens

Name  ? charged multivesicular body protein 4B Cytological Location  20q11.22
Brief Description  charged multivesicular body protein 4B
Description  This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
  • synonyms:
  • C20orf178,
  • HGNC:16171,
  • CHMP4B,
  • dJ553F4.4,
  • CTRCT31,
  • CHMP4A,
  • Vps32-2,
  • uc002xaa.4,
  • Shax1,
  • dJ553F4.4,
  • SNF7-2,
  • chromosome 20 open reading frame 178,
  • AL050349,
  • OTTHUMG00000032272,
  • chromatin modifying protein 4B,
  • SNF7,
  • SNF7-2,
  • Shax1,
  • CTPP3,
  • VPS32B,
  • VPS32B,
  • NM_176812,
  • C20orf178
  • identifiers:
  • 128866,
  • ENSG00000101421,
  • CHMP4B

Genome feature

Region: gene ? Length: 43019  
Location: 20:33811348-33854366 Cyto location: 20q11.22

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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

Gene Ontology

Gene --> GO terms.



621 SNPs

5 Cross References

18 Data Sets

8 Homologues

5 Located Features

97 Rna Seq Results