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

    Gene ID: 9445, updated on 6-Jan-2019

    Summary

    Official Symbol
    ITM2Bprovided by HGNC
    Official Full Name
    integral membrane protein 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:6174
    See related
    Ensembl:ENSG00000136156 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]
    Expression
    Ubiquitous expression in kidney (RPKM 762.1), placenta (RPKM 503.6) and 25 other tissues See more
    Orthologs

    Genomic context

    See ITM2B in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC105370198 Neighboring gene mediator complex subunit 4 Neighboring gene RNA polymerase II subunit K pseudogene 2 Neighboring gene RB1 divergent transcript Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 1 Neighboring gene RB transcriptional corepressor 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from BioSystems

    • Amyloid fiber formation, organism-specific biosystem (from REACTOME)
      Amyloid fiber formation, organism-specific biosystemAmyloid is a term used to describe deposits of fibrillar proteins, typically extracellular. The abnormal accumulation of amyloid, amyloidosis, is a term associated with tissue damage caused by amyloi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amyloid-beta 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi-associated vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space 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 HDA PubMed 
    plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    integral membrane protein 2B
    Names
    ABri/ADan amyloid peptide
    BRICHOS domain containing 2B
    epididymis secretory sperm binding protein
    immature BRI2
    transmembrane protein BRI

    NCBI Reference Sequences (RefSeq)

    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_013069.2 RefSeqGene

      Range
      5595..42746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021999.5NP_068839.1  integral membrane protein 2B

      See identical proteins and their annotated locations for NP_068839.1

      Status: REVIEWED

      Source sequence(s)
      AK130048, AL139322, DA087198
      Consensus CDS
      CCDS9409.1
      UniProtKB/Swiss-Prot
      Q9Y287
      Related
      ENSP00000497221.1, ENST00000647800.1
      Conserved Domains (1) summary
      smart01039
      Location:137231
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

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