integral membrane protein 2C; transmembrane protein BRI3; cerebral protein 14 (ITM2C, BRI3, hucep-14, NPD018, PSEC0047)

Function

• negative regulator of beta amyloid peptide production
• may inhibit the processing of APP by blocking its access to alpha-secretase & beta-secretase
• binding to the beta-secretase-cleaved APP C-terminal fragment is negligible, suggesting that ITM2C is a poor gamma-secretase cleavage inhibitor
• may play a role in TNF-induced cell death & neuronal differentiation (putative)
• furin (type 1 membrane-bound & soluble furin) has a role in ITM2C proteolytic processing
• PCSK7 & PCSK5 may also be involved to a lesser extent
• soluble form of PCSK7 is incapable of processing ITM2C
• interacts with BACE1
• interacts with APP
• interacts with STMN2

Structure

• belongs to the ITM2 family
• contains 1 BRICHOS domain

Compartment

• lysosome membrane
• single-pass type 2 membrane protein (putative)

Alternative splicing

named isoforms=3

Expression

• high levels in the central nervous system
  • brain
    • cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe
  • spinal cord
• very low level if expression in other organs

More general terms

• ITM2 protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=81618
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:81618
• OMIM: https://mirror.omim.org/entry/609554
• UniProt: http://www.uniprot.org/uniprot/Q9NQX7.html