ID:ITM2C_HUMAN DESCRIPTION: RecName: Full=Integral membrane protein 2C; AltName: Full=Cerebral protein 14; AltName: Full=Transmembrane protein BRI3; Contains: RecName: Full=CT-BRI3; FUNCTION: Negative regulator of beta amyloid peptide production. May inhibit the processing of APP by blocking its access to alpha- and 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 and neuronal differentiation (By similarity). SUBUNIT: Interacts with BACE1. Interacts with APP. Interacts with STMN2. SUBCELLULAR LOCATION: Lysosome membrane; Single-pass type II membrane protein (By similarity). Cell membrane; Single-pass type II membrane protein. TISSUE SPECIFICITY: High levels in the brain, specifically in the cerebral cortex, medulla, amygdala, hippocampus, thalamus, caudate nucleus, cerebellum, olfactory lobe and spinal cord. Very low levels in other organs. PTM: Type I membrane-bound, as well as soluble, furin has a pre- eminent role in ITM2C proteolytic processing. PCSK7 and PCSK5 may also be involved although to a lesser extent. The soluble form of PCSK7 is incapable of processing ITM2C. Fails to undergo shedding by ADAM10 and intramembanaire cleavage by SPPL2B. SIMILARITY: Belongs to the ITM2 family. SIMILARITY: Contains 1 BRICHOS domain.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ITM2C CDC HuGE Published Literature: ITM2C
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9NQX7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0010977 negative regulation of neuron projection development GO:0030182 neuron differentiation GO:0042985 negative regulation of amyloid precursor protein biosynthetic process GO:2001238 positive regulation of extrinsic apoptotic signaling pathway