Sequence in raw or FASTA format:
ITM2B integral membrane protein 2B [Homo sapiens (human)]
| Gene Symbol | ITM2B |
| Entrez Gene ID | 9445 |
| Full Name | integral membrane protein 2B |
| Synonyms | ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD |
| 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]. |
| Disorder | MIM: 603904 Dementia, familial British, 176500 (3); Dementia, familial Danish, |
| mRNA | NM_021999, 221316670 |
| Protein | NP_068839, 11527402 |
| Product | integral membrane protein 2B |
| RefSeq Status | REVIEWED |
| WP49 | IL-2 Signaling Pathway |
| Homo sapiens (human) | ITM2B | NP_068839.1 |
| Pan troglodytes (chimpanzee) | ITM2B | XP_509776.2 |
| Canis lupus familiaris (dog) | ITM2B | XP_534119.2 |
| Bos taurus (cattle) | ITM2B | NP_001030265.1 |
| Mus musculus (house mouse) | Itm2b | NP_032436.1 |
| Rattus norvegicus (Norway rat) | Itm2b | NP_001006964.1 |
| Gallus gallus (chicken) | ITM2B | NP_990416.1 |
| Danio rerio (zebrafish) | itm2ba | NP_955940.1 |
| ID | Name | Evidence |
| GO:0006915 | apoptosis | IEA |
| GO:0006917 | induction of apoptosis | IEA |
| GO:0007399 | nervous system development | TAS |
Component
| ID | Name | Evidence |
| GO:0000139 | Golgi membrane | IEA |
| GO:0005634 | nucleus | IDA |
| GO:0005794 | Golgi apparatus | IDA |
| GO:0005886 | plasma membrane | IEA |
| GO:0016021 | integral to membrane | IEA |
| GO:0043231 | intracellular membrane-bounded organelle | IDA |
Function
| ID | Name | Evidence |
| GO:0001540 | beta-amyloid binding | IPI |
| GO:0005524 | ATP binding | IEA |
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