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Gene : MVB12B Homo sapiens

Name  ? multivesicular body subunit 12B Cytological Location  9q33.3
Brief Description  multivesicular body subunit 12B
description  The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
  • synonyms:
  • C9orf28,
  • FLJ00001,
  • OTTHUMG00000020687,
  • uc004bqh.3,
  • FAM125B,
  • family with sequence similarity 125, member B,
  • AK000001,
  • C9orf28,
  • FAM125B,
  • NM_033446,
  • HGNC:23368,
  • MVB12B,
  • chromosome 9 open reading frame 28
  • identifiers:
  • 89853,
  • ENSG00000196814,
  • MVB12B

Genome feature

Region: gene ? Length: 180198  
Location: 9:126326844-126507041 Cyto location: 9q33.3

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


0 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.



2011 SN Ps

4 Cross References

17 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results