ITM2B

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]

Description

Integral membrane protein 2B

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Vesicles

Predicted location

Intracellular, Membrane, Secreted to blood

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

13 (48232612 - 48270357)

Ensembl ID

ENSG00000136156  (ver. 103.38)

Orthologs

Mouse Itm2b: ENSMUSG00000022108

UniProt

Q9Y287

neXtProt

NX_Q9Y287

Human splice variants
Mouse splice variants

Protein structure