KEGG   Homo sapiens (human): 25978
Entry
25978             CDS       T01001                                 
Symbol
CHMP2B, ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B
Name
(RefSeq) charged multivesicular body protein 2B
  KO
K12192  charged multivesicular body protein 2B
Organism
hsa  Homo sapiens (human)
Pathway
hsa04144  Endocytosis
hsa04217  Necroptosis
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Disease
H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    25978 (CHMP2B)
  09143 Cell growth and death
   04217 Necroptosis
    25978 (CHMP2B)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    25978 (CHMP2B)
   05022 Pathways of neurodegeneration - multiple diseases
    25978 (CHMP2B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    25978 (CHMP2B)
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    25978 (CHMP2B)
Membrane trafficking [BR:hsa04131]
 Endosome - Lysosome transport
  Endosomal sorting complexes required for transport (ESCRT)
   ESCRT-III complex
    25978 (CHMP2B)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   25978 (CHMP2B)
SSDB
Motif
Pfam: Snf7 DnaJ-X DUF3456
Other DBs
NCBI-GeneID: 25978
NCBI-ProteinID: NP_054762
OMIM: 609512
HGNC: 24537
Ensembl: ENSG00000083937
UniProt: Q9UQN3 B2RE76
Structure
LinkDB
Position
3:87227309..87255556
AA seq 213 aa
MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKV
LAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTTAKTMQAVNKKMDPQK
TLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAK
APSAARSLPSASTSKATISDEEIERQLKALGVD
NT seq 642 nt   +upstreamnt  +downstreamnt
atggcgtccctcttcaagaagaaaaccgtggatgatgtaataaaggaacagaatcgagag
ttacgaggtacacagagggctataatcagagatcgagcagctttagagaaacaagaaaaa
cagctggaattagaaattaagaaaatggccaagattggtaataaggaagcttgcaaagtt
ttagccaaacaacttgtgcatctacggaaacagaagacgagaacttttgctgtaagttca
aaagttacttctatgtctacacaaacaaaagtgatgaattcccaaatgaagatggctgga
gcaatgtctactacagcaaaaacaatgcaggcagttaacaagaagatggatccacaaaag
acattacaaacaatgcagaatttccagaaggaaaacatgaaaatggaaatgactgaagaa
atgatcaatgatacacttgatgacatctttgacggttctgatgacgaagaagaaagccag
gatattgtgaatcaagttcttgatgaaattggaattgaaatttctggaaagatggccaaa
gctccatcagctgctcgaagcttaccatctgcctctacttcaaaggctacaatctcagat
gaagagattgaacggcaactcaaggctttaggagtagattag

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