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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:65336014-65359612 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 37.26 cM, cytoband C1.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    135 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916192
 protein coding gene Chr16:65336014-65359648 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022945
 protein coding gene Chr16:65066810-65091205 (-)
A/J MGP_AJ_G0022913
 protein coding gene Chr16:62271231-62295398 (-)
AKR/J MGP_AKRJ_G0022883
 protein coding gene Chr16:64215986-64239535 (-)
BALB/cJ MGP_BALBcJ_G0022915
 protein coding gene Chr16:62496567-62520308 (-)
C3H/HeJ MGP_C3HHeJ_G0022677
 protein coding gene Chr16:64525838-64551011 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023363
 protein coding gene Chr16:67004170-67029700 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020866
 protein coding gene Chr16:61278672-61302704 (-)
CAST/EiJ MGP_CASTEiJ_G0022200
 protein coding gene Chr16:64740418-64766122 (-)
CBA/J MGP_CBAJ_G0022648
 protein coding gene Chr16:69879823-69909419 (-)
DBA/2J MGP_DBA2J_G0022780
 protein coding gene Chr16:62030041-62054194 (-)
FVB/NJ MGP_FVBNJ_G0022754
 protein coding gene Chr16:61644171-61667631 (-)
LP/J MGP_LPJ_G0022849
 protein coding gene Chr16:64860688-64885709 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022773
 protein coding gene Chr16:71066888-71093932 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023379
 protein coding gene Chr16:64306677-64333361 (-)
PWK/PhJ MGP_PWKPhJ_G0021943
 protein coding gene Chr16:62187703-62214676 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021771
 protein coding gene Chr16:63920880-64025679 (-)
WSB/EiJ MGP_WSBEiJ_G0022247
 protein coding gene Chr16:64402036-64426567 (-)



Homology
more
  • Human Ortholog
    CHMP2B, charged multivesicular body protein 2B
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CHMP2B, charged multivesicular body protein 2B
  • Synonyms
    ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B
  • Links
    NCBI Gene ID: 25978
    neXtProt AC: NX_Q9UQN3
    UniProt: Q9UQN3

  • Chr Location
    3p11.2; chr3:87227271-87255556 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Chmp2b mouse models; 3 with human CHMP2B associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 4 genetic backgrounds
    13 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.
Mice homozygous for a hypomorphic gene trapped allele display reduced dendritic spine and excitatory synapse density in the hippocampus. Heterozygosity for p.Q165* mutation affects neural stem cells and leads to neurological defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    76
  • GO References
    8
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    836
  • Tissues
    46
  • cDNA Data
    67
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004843 Ensembl Gene Model | MGI Sequence Detail 23599 C57BL/6J ±  kb
    transcript ENSMUST00000004965 Ensembl | MGI Sequence Detail 1872 Not Applicable  
    polypeptide ENSMUSP00000004965 Ensembl | MGI Sequence Detail 213 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 68
      cDNA 67
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 8
      Phenotypes 13
    • 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:339600 Hermosilla Aguayo V, et al., ESCRT-dependent control of craniofacial morphogenesis with concomitant perturbation of NOTCH signaling. Dev Biol. 2023 Aug 10;503:25-42
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory