CHMP2B
entrez
25978
canonical
uniprot
Q9UQN3
canonical
ensembl
ENSG00000083937
resolver
ensp
ENSP00000263780
resolver
ensp
ENSP00000419998
resolver
ensp
ENSP00000480032
resolver
ensp
ENSP00000504098
resolver
enst
ENST00000472024
resolver
enst
ENST00000676705
resolver
genesymbol
CHMP2B
resolver
hgnc
HGNC:24537
resolver
uniprot
A0A087WW88
resolver
uniprot
B2RE76
resolver
uniprot
B4DJG8
resolver
uniprot
Q53HC7
resolver
uniprot
Q9Y4U6
resolver
uniprot_entry
A0A087WW88_HUMAN
resolver
uniprot_entry
B2RE76_HUMAN
resolver
uniprot_entry
CHM2B_HUMAN
resolver
uniprot_sec
B4DJG8
resolver
uniprot_sec
Q53HC7
resolver
uniprot_sec
Q9Y4U6
resolver
amino_acid_sequence
MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKALGVD
uniprot
proteins
disease_involvement
DISEASE: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795]: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia (FTD) is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis (ALS) is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS7 is an autosomal dominant form characterized by onset of ALS or FTD in adulthood. A few patients may have both phenotypes. {ECO:0000269|PubMed:16041373, ECO:0000269|PubMed:16807408, ECO:0000269|PubMed:20352044}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.
uniprot
proteins
mass_dalton
23907
uniprot
proteins
protein_family
SNF7 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14519844
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16041373
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16807408
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17928862
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20352044
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
213
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16041373}. Late endosome membrane {ECO:0000305|PubMed:16041373}; Peripheral membrane protein {ECO:0000305|PubMed:16041373}.
uniprot
proteins