ENSG00000101421


Homo sapiens

Features
Gene ID: ENSG00000101421
  
Biological name :CHMP4B
  
Synonyms : charged multivesicular body protein 4B / CHMP4B / Q9H444
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: 1
Band: q11.22
Gene start: 33811304
Gene end: 33854366
  
Corresponding Affymetrix probe sets: 225119_at (Human Genome U133 Plus 2.0 Array)   225498_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000217402
NCBI entrez gene - 128866     See in Manteia.
OMIM - 610897
RefSeq - NM_176812
RefSeq Peptide - NP_789782
swissprot - Q9H444
Ensembl - ENSG00000101421
  
Related genetic diseases (OMIM): 605387 - Cataract 31, multiple types, 605387
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 chmp4baENSDARG00000016255Danio rerio
 Q6IQ73ENSDARG00000007323Danio rerio
 CHMP4BENSGALG00000002095Gallus gallus
 Chmp4bENSMUSG00000038467Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHMP4C / Q96CF2 / charged multivesicular body protein 4CENSG0000016469565
CHMP4A / Q9BY43 / charged multivesicular body protein 4AENSG0000025450562


Protein motifs (from Interpro)
Interpro ID Name
 IPR005024  Snf7 family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IMP
 biological_processGO:0000920 cell separation after cytokinesis IMP
 biological_processGO:0006620 posttranslational protein targeting to endoplasmic reticulum membrane IMP
 biological_processGO:0006914 autophagy TAS
 biological_processGO:0006997 nucleus organization IMP
 biological_processGO:0007034 vacuolar transport IEA
 biological_processGO:0007080 mitotic metaphase plate congression IMP
 biological_processGO:0010458 exit from mitosis IMP
 biological_processGO:0010506 regulation of autophagy IEA
 biological_processGO:0010824 regulation of centrosome duplication IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016197 endosomal transport TAS
 biological_processGO:0016236 macroautophagy TAS
 biological_processGO:0019058 viral life cycle TAS
 biological_processGO:0031468 nuclear envelope reassembly IMP
 biological_processGO:0036258 multivesicular body assembly TAS
 biological_processGO:0036438 maintenance of lens transparency IMP
 biological_processGO:0039702 viral budding via host ESCRT complex IGI
 biological_processGO:0046755 viral budding IMP
 biological_processGO:0050792 regulation of viral process IMP
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0060548 negative regulation of cell death IMP
 biological_processGO:0090148 membrane fission IMP
 biological_processGO:0090611 ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
 biological_processGO:1901215 negative regulation of neuron death IMP
 biological_processGO:1901673 regulation of mitotic spindle assembly IMP
 biological_processGO:1902188 positive regulation of viral release from host cell IMP
 biological_processGO:1902902 negative regulation of autophagosome assembly IMP
 cellular_componentGO:0000815 ESCRT III complex IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030117 membrane coat IDA
 cellular_componentGO:0030496 midbody IEA
 cellular_componentGO:0031902 late endosome membrane IEA
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0045296 cadherin binding IDA


Pathways (from Reactome)
Pathway description
Budding and maturation of HIV virion
Macroautophagy
Endosomal Sorting Complex Required For Transport (ESCRT)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0007787 Posterior subcapsular cataracts 
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 HP:0010923 Anterior subcapsular cataract "A type of cataract affecting the `Anterior pole of lens` (FMA:58897) immediately adjacent to ( beneath ) the `Lens capsule` (FMA:58881)." [HPO:probinson]
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 HP:0100018 Nuclear cataract "A nuclear cataract is an opacity or clouding that develops in the `lens nucleus` (FMA:58971). That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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