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Chmp2b Gene Detail
Summary
  • Symbol
    Chmp2b
  • Name
    charged multivesicular body protein 2B
  • Synonyms
    1190006E07Rik, chromatin modifying protein 2B
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916192
    NCBI Gene: 68942
  • Gene Overview
    MyGene.info: CHMP2B
Location & Maps
more
  • Sequence Map
    Chr16:65539133-65562697 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      23565 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 37.26 cM, cytoband C1.3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CHMP2B, charged multivesicular body protein 2B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CHMP2B, charged multivesicular body protein 2B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B
  • Links
    NCBI Gene ID: 25978
    neXtProt AC: NX_Q9UQN3

  • Chr Location
    3p11.2; chr3:87227263-87255548 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human CHMP2B associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 17; ALS17   OMIM: 614696
Frontotemporal Dementia, Chromosome 3-Linked; FTD3   OMIM: 600795
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    3
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 68942 NCBI Gene Model | MGI Sequence Detail 23565 C57BL/6J ±  kb
transcript NM_026879 RefSeq | MGI Sequence Detail 1838 C57BL/6  
polypeptide Q8BJF9 UniProt | EBI | MGI Sequence Detail 213 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    135 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000005435 charged multivesicular body protein 2b
  • InterPro Domains
    IPR005024 Snf7 family
Molecular
Reagents
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  • All nucleic 66
    cDNA 66

    Microarray probesets 3
References
more
  • Summaries
    All 30
    Developmental Gene Expression 4
    Gene Ontology 3
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:221937 Watson JA, et al., Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS. PLoS Genet. 2015 Jun;11(6):e1005290

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory