Homo sapiens Gene: ITM2B
Summary
InnateDB Gene IDBG-31933.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ITM2B
Gene Name integral membrane protein 2B
Synonyms ABRI; BRI; BRI2; BRICD2B; E25B; E3-16; FBD; imBRI2;
Species Homo sapiens
Ensembl Gene ENSG00000136156
Encoded Proteins
integral membrane protein 2B
integral membrane protein 2B
integral membrane protein 2B
integral membrane protein 2B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 13:48233158-48270357
Strand Forward strand
Band q14.2
Transcripts
ENST00000378565 ENSP00000367828
ENST00000378549 ENSP00000367811
ENST00000463839 ENSP00000476004
ENST00000607866 ENSP00000475556
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 4 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0005515 protein binding
GO:0005524 ATP binding
Biological Process
GO:0007399 nervous system development
GO:0042985 negative regulation of amyloid precursor protein biosynthetic process
GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030660 Golgi-associated vesicle membrane
GO:0031301 integral component of organelle membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
IL2 pathway
REACTOME
Amyloids pathway
Disease pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.675535 Hs.728465
RefSeq NM_021999
HUGO
OMIM
CCDS CCDS9409
HPRD 04878
IMGT
EMBL
GenPept
RNA Seq Atlas