ITM2B | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ITM2B , ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2, RDGCA, integral membrane protein 2B | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603904; MGI: 1309517; HomoloGene: 7388; GeneCards: ITM2B; OMA:ITM2B - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Integral membrane protein 2B (ITM2B or BRI2) is a protein that in humans is encoded by the ITM2B gene. [5] [6]
ITM2B or BRI2 is a gene located on chromosome 13. The gene is connected to familial Danish dementia and familial British dementia causing amyloid and pre-filbrillar effects similar to those seen in Alzheimer's.
DNA polymerase kappa is a DNA polymerase that in humans is encoded by the POLK gene. It is involved in translesion synthesis.
Relaxin/insulin-like family peptide receptor 3, also known as RXFP3, is a human G-protein coupled receptor.
Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene. It forms part of one of the endosomal sorting complexes required for transport (ESCRT) - specifically ESCRT-III - which are a series of complexes involved in cell membrane remodelling. CHMP2B forms long chains that spiral around the neck of a budding vesicle. Along with the other components of ESCRT-III, CHMP2B constricts the neck of the vesicle just before it is cleaved away from the membrane.
Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform (PP2BB) is an enzyme that in humans is encoded by the PPP3CB gene.
Interleukin 10 receptor, beta subunit is a subunit for the interleukin-10 receptor. IL10RB is its human gene.
Interleukin-18-binding protein is a protein that in humans is encoded by the IL18BP gene.
Neuroserpin is a protein that in humans is encoded by the SERPINI1 gene.
Integral membrane protein 2C is a protein that in humans is encoded by the ITM2C gene.
Ubiquitin-conjugating enzyme E2 B is a protein that in humans is encoded by the UBE2B gene.
Olfactory receptor 10H3 is a protein that in humans is encoded by the OR10H3 gene.
Fibroblast growth factor 13 is a protein that in humans is encoded by the FGF13 gene.
SH2 domain-containing protein 4A is a protein that in humans is encoded by the SH2D4A gene.
Amyloid beta A4 precursor protein-binding family B member 2 is a protein that in humans is encoded by the APBB2 gene.
N-terminal EF-hand calcium-binding protein 3 is a protein that in humans is encoded by the NECAB3 gene.
Amyloid beta A4 precursor protein-binding family B member 3 is a protein that in humans is encoded by the APBB3 gene.
Amyloid protein-binding protein 2 is a protein that in humans is encoded by the APPBP2 gene.
Ig gamma-3 chain C region is a protein that in humans is encoded by the IGHG3 gene.
F-box/WD repeat-containing protein 8 is a protein that in humans is encoded by the FBXW8 gene.
Collagen alpha-1(XXV) chain is a protein that in humans is encoded by the COL25A1 gene.
Familial Danish dementia is an extremely rare, neurodegenerative disease characterized by progressive cataracts, loss of hearing, cerebellar ataxia, paranoid psychosis, and dementia. Neuropathological hallmarks include extensive atrophy of all areas of the brain, chronic diffuse encephalopathy, and the presence of exceedingly thin and nearly totally demyelinated cranial nerves.