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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
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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
  • 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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Related articles in PubMed

  1. Beta-amyloid peptide binding protein does not couple to G protein in a heterologous Xenopus expression system. Lee Y, et al. J Neurosci Res, 2003 Jul 15. PMID 12836168
  2. The secretory beta-amyloid precursor protein is a motogen for human epidermal keratinocytes. Kirfel G, et al. Eur J Cell Biol, 2002 Dec. PMID 12553667
  3. The low density lipoprotein receptor-related protein 1B retains beta-amyloid precursor protein at the cell surface and reduces amyloid-beta peptide production. Cam JA, et al. J Biol Chem, 2004 Jul 9. PMID 15126508
  4. beta -Amyloid peptide-induced apoptosis regulated by a novel protein containing a g protein activation module. Kajkowski EM, et al. J Biol Chem, 2001 Jun 1. PMID 11278849
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

See all (11) citations in PubMed

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

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