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    TM2D1 TM2 domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 83941, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TM2D1provided by HGNC
    Official Full Name
    TM2 domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:24142
    See related
    Ensembl:ENSG00000162604 MIM:610080; AllianceGenome:HGNC:24142
    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
    BBP
    Summary
    The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.4), adrenal (RPKM 15.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TM2D1 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (61681046..61725141, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (61559915..61604028, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62146718..62190813, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1113 Neighboring gene sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene Neighboring gene MPRA-validated peak264 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:62190259-62191458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 944 Neighboring gene PATJ divergent transcript Neighboring gene PATJ crumbs cell polarity complex component Neighboring gene RNA, U6 small nuclear 414, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A two-electrode voltage-clamp technique is used to determine that BBP is not directly coupled to G alpha(i/o), G alpha(s), or G alpha(q) proteins and that BBP may need a component other than amyloid precursor protein to exert its toxic effect with A beta.
      Title: Beta-amyloid peptide binding protein does not couple to G protein in a heterologous Xenopus expression system.
    2. sAPP increased the proportion of migrating keratinocytes and their directional persistence. sAPP appeared to operate synergistically with fibronectin with respect to its motogenic effect.
      Title: The secretory beta-amyloid precursor protein is a motogen for human epidermal keratinocytes.
    3. These findings reveal that low density lipoprotein receptor-related protein 1B is a novel binding partner of beta-amyloid precursor protein (APP) that functions to decrease APP processing to amyloid beta peptides.
      Title: The low density lipoprotein receptor-related protein 1B retains beta-amyloid precursor protein at the cell surface and reduces amyloid-beta peptide production.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TM2 domain-containing protein 1
    Names
    Beta-amyloid peptide binding protein
    amyloid-beta-binding protein
    beta-amyloid-binding protein
    hBBP

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_032027.3 → NP_114416.1  TM2 domain-containing protein 1 precursor

      See identical proteins and their annotated locations for NP_114416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC099791
      Consensus CDS
      CCDS65554.1
      UniProtKB/Swiss-Prot
      A6NDA8, Q9BX74
      Related
      ENSP00000475700.1, ENST00000606498.5
      Conserved Domains (1) summary
      pfam05154
      Location:117 → 166
      TM2; TM2 domain

    RNA

    1. NR_135160.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC099791, AF353990, AK311705, BC029486, BG700625

    2. NR_135161.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC099791, AF353990, AI168073, AK311705, BC029486

    3. NR_135162.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice junctions and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC099791, AF353990, AK311705, BC029486, BU664262

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      61681046..61725141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431744.1 → XP_047287700.1  TM2 domain-containing protein 1 isoform X2

    2. XM_047431745.1 → XP_047287701.1  TM2 domain-containing protein 1 isoform X2

    3. XM_047431743.1 → XP_047287699.1  TM2 domain-containing protein 1 isoform X1

    RNA

    1. XR_007064044.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      61559915..61604028 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339059.1 → XP_054195034.1  TM2 domain-containing protein 1 isoform X2

    2. XM_054339058.1 → XP_054195033.1  TM2 domain-containing protein 1 isoform X1

    3. XM_054339060.1 → XP_054195035.1  TM2 domain-containing protein 1 isoform X2

    RNA

    1. XR_008486175.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BX74.1 GenPept UniProtKB/Swiss-Prot:Q9BX74

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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