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Protein Page:
ITM2B (human)

Overview
ITM2B Plays a regulatory role in the processing of the beta- amyloid A4 precursor protein (APP) and acts as an inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites. Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 1 (CAA-ITM2B1). A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. ABri amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. ABri peptide variant forms fibrila in vitro. Defects in ITM2B are a cause of cerebral amyloid angiopathy ITM2B-related type 2 (CAA-ITM2B2); also known as heredopathia ophthalmo-oto-encephalica. A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness. ADan amyloidogenic peptide variant is cleaved at the normal furin processing site to generate peptide that accumulates in the brain and produces amyloid fibrils responsible for neuronal dysfunction and dementia. Belongs to the ITM2 family. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 13q14.3
Cellular Component: extracellular region; extracellular space; Golgi apparatus; intracellular membrane-bound organelle; membrane; plasma membrane
Molecular Function: beta-amyloid binding; protein binding
Biological Process: cellular protein metabolic process; negative regulation of amyloid precursor protein biosynthetic process; nervous system development
Disease: Cerebral Amyloid Angiopathy, Itm2b-related, 1; Cerebral Amyloid Angiopathy, Itm2b-related, 2; Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Reference #:  Q9Y287 (UniProtKB)
Alt. Names/Synonyms: ABRI; ABri/ADan amyloid peptide; BRI; BRI2; BRICD2B; BRICHOS domain containing 2B; E25B; E3-16; FBD; Integral membrane protein 2B; ITM2B; Protein E25B; Transmembrane protein BRI
Gene Symbols: ITM2B
Molecular weight: 30,338 Da
Basal Isoelectric point: Predict pI for various phosphorylation states
Select Structure to View Below

ITM2B

Protein Structure Not Found.


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