CHMP2B (charged multivesicular body protein 2B)

2016-10-01  

Identity

HGNC
CHMP2B
LOCATION
3p11.2
LOCUSID
25978
ALIAS
ALS17,CHMP2.5,DMT1,FTDALS7,VPS2-2,VPS2B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 25978
MIM: 609512
HGNC: 24537
Ensembl: ENSG00000083937

Variants:

dbSNP: 25978
ClinVar: 25978
TCGA: ENSG00000083937
COSMIC: CHMP2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000083937ENST00000263780Q9UQN3
ENSG00000083937ENST00000263780B2RE76
ENSG00000083937ENST00000471660Q9UQN3
ENSG00000083937ENST00000472024A0A087WW88
ENSG00000083937ENST00000494980C9J0A7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
160413732005Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.239
168074082006ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).121
203520442010Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).77
203520442010Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).77
202237512010Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.65
219261732011Charged multivesicular body protein 2B (CHMP2B) of the endosomal sorting complex required for transport-III (ESCRT-III) polymerizes into helical structures deforming the plasma membrane.42
179568952008CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.35
197068932009Divalent metal transporter 1 (DMT1) regulation by Ndfip1 prevents metal toxicity in human neurons.32
206993552010CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines.29
212225992011Frontotemporal dementia caused by CHMP2B mutations.28

Citation

Dessen P

CHMP2B (charged multivesicular body protein 2B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55963/chmp2b