MGP Database

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MGP003905

Record overview

MGPD IDMGP003905
Gene ID9445
SpeciesHomo sapiens (Human)
Gene Nameintegral membrane protein 2B
Gene Symbol ITM2B
SynonymsBRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B;
Alternate namesintegral membrane protein 2B; ABri/ADan amyloid peptide; BRICHOS domain containing 2B; immature BRI2; transmembrane protein BRI;
Chromosome13
Map Location13q14.3
SummaryAmyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
OrthologsView orthologs and multiple alignments for ITM2B

Proteins

integral membrane protein 2B
Refseq ID:NP_068839
Protein GI:11527402
UniProt ID:Q9Y287
mRNA ID:NM_021999
Length:266
RefSeq Status:
MVKVTFNSALAQKEAKKDEPKSGEEALIIPPDAVAVDCKDPDDVVPVGQRRAWCWCMCFGLAFMLAGVILGGAYLYKYFALQPDDVYYCGIKYIKDDVIL
NEPSADAPAALYQTIEENIKIFEEEEVEFISVPVPEFADSDPANIVHDFNKKLTAYLDLNLDKCYVIPLNTSIVMPPRNLLELLINIKAGTYLPQSYLIH
EHMVITDRIENIDHLGFFIYRLCHDKETYKLQRRETIKGIQKREASNCFAIRHFENKFAVETLICS
 
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