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

Gene ID: 83941, updated on 11-Sep-2019

Summary

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
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

Genomic context

See TM2D1 in Genome Data Viewer
Location:
1p31.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (61681046..61725423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62146718..62191095, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984964 Neighboring gene sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) pseudogene Neighboring gene PATJ crumbs cell polarity complex component Neighboring gene RNA, U6 small nuclear 414, pseudogene Neighboring gene microRNA 12132

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amyloid-beta binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

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_032027.3NP_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
    Q9BX74
    Related
    ENSP00000475700.1, ENST00000606498.5
    Conserved Domains (1) summary
    pfam05154
    Location:117166
    TM2; TM2 domain

RNA

  1. NR_135160.1 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_135161.1 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)
    AF353990, AI168073, AK311705, BC029486
    Related
    ENST00000371180.6
  3. NR_135162.1 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)
    AF353990, AK311705, BC029486, BU664262

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    61681046..61725423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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