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ITM2B integral membrane protein 2B [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu27275 NM_021999 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. pcDNA3.1+-DYK On-demand 7-9 $159.00
OHu27275C NM_021999 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. Customized vector On-demand 7-9 $209.00

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Gene Symbol ITM2B
Entrez Gene ID 9445
Full Name integral membrane protein 2B
Synonyms ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, imBRI2
General protein information
Preferred Names
integral membrane protein 2B
Names
integral membrane protein 2B
immature BRI2
ABri/ADan amyloid peptide
transmembrane protein BRI
BRICHOS domain containing 2B
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q14.3

Summary Amyloid 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].
Disorder

MIM: 603904

Dementia, familial British, 176500 (3); Dementia, familial Danish,

mRNA Protein Product Sequence Price Select
NM_021999, 221316670 NP_068839, 11527402 integral membrane protein 2B ORF Sequence $300.00
Reactome
REACT_75925Amyloids
REACT_116125Disease
Homo sapiens (human)ITM2BNP_068839.1
Pan troglodytes (chimpanzee)ITM2BNP_001092017.1
Macaca mulatta (Rhesus monkey)ITM2BXP_002800791.1
Canis lupus familiaris (dog)ITM2BXP_005633935.1
Bos taurus (cattle)ITM2BNP_001030265.1
Mus musculus (house mouse)Itm2bNP_032436.1
Rattus norvegicus (Norway rat)Itm2bNP_001006964.1
Gallus gallus (chicken)ITM2BNP_990416.1
Danio rerio (zebrafish)itm2baNP_955940.1
Xenopus (Silurana) tropicalis (western clawed frog)itm2bNP_989241.1
Process
IDNameEvidence
GO:0007399nervous system developmentTAS
GO:0042985negative regulation of amyloid precursor protein biosynthetic processIDA
GO:0097192extrinsic apoptotic signaling pathway in absence of ligandIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIDA
GO:0005794Golgi apparatusIDA
GO:0005886plasma membraneIDA
GO:0010008endosome membraneIEA
GO:0016020membraneIDA
GO:0030660Golgi-associated vesicle membraneIDA
GO:0031301integral component of organelle membraneIDA
GO:0043231intracellular membrane-bounded organelleIDA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0001540beta-amyloid bindingIPI
GO:0005515protein bindingIPI
GO:0005524ATP bindingIEA
GeneCards ITM2B
UniProt Q9Y287
Vega OTTHUMG00000016894
MIM 603904
Ensembl ENSG00000136156
HGNC 6174
HPRD 04878

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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