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

Gene ID: 9445, updated on 23-Nov-2014
Official Symbol
ITM2Bprovided by HGNC
Official Full Name
integral membrane protein 2Bprovided by HGNC
Primary source
HGNC:HGNC:6174
Locus tag
RP11-196P14.1
See related
HPRD:04878; MIM:603904
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRI; FBD; ABRI; BRI2; E25B; E3-16; RDGCA; imBRI2; BRICD2B
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]
See ITM2B in Epigenomics, MapViewer
Location:
13q14.3
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (48233138..48262096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (48807274..48836232)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene MED4 antisense RNA 1 Neighboring gene mediator complex subunit 4 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2 Neighboring gene long intergenic non-protein coding RNA 441 Neighboring gene protein phosphatase 1, regulatory subunit 26 pseudogene 1 Neighboring gene retinoblastoma 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with integral membrane protein 2B (ITM2B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

  • Amyloids, organism-specific biosystem (from REACTOME)
    Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
beta-amyloid binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi-associated vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of organelle membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
integral membrane protein 2B
Names
integral membrane protein 2B
immature BRI2
ABri/ADan amyloid peptide
transmembrane protein BRI
BRICHOS domain containing 2B

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013069.1 

    Range
    5001..33959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_021999.4NP_068839.1  integral membrane protein 2B

    See proteins identical to NP_068839.1

    Status: REVIEWED

    Source sequence(s)
    AF136973, AF152462, AK130048, DA087198
    Consensus CDS
    CCDS9409.1
    UniProtKB/Swiss-Prot
    Q9Y287
    Conserved Domains (1) summary
    pfam04089
    Location:137231
    BRICHOS; BRICHOS domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    29599469..29628426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    48233138..48262096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    48774975..48803938
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)