Human Gene TM2D1 (uc001czz.1)
  Description: Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.
RefSeq Summary (NM_032027): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:62,146,719-62,191,095 Size: 44,377 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:62,149,108-62,190,792 Size: 41,685 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:62,146,719-62,191,095)mRNA (may differ from genome)Protein (207 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TM2D1_HUMAN
DESCRIPTION: RecName: Full=TM2 domain-containing protein 1; AltName: Full=Beta-amyloid-binding protein; Short=hBBP; Flags: Precursor;
FUNCTION: May participate in beta-amyloid-induced apoptosis via its interaction with beta-APP42.
SUBUNIT: Interacts with beta-APP42 (beta-amyloid protein 42) peptide of APP.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Widely expressed.
PTM: N-glycosylated.
SIMILARITY: Belongs to the TM2 family.
CAUTION: Was originally (PubMed:11278849) thought to modulate beta-amyloid toxicity by coupling to G protein. However, PubMed:12836168 showed that this effect is not direct.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TM2D1
Diseases sorted by gene-association score: alzheimer disease (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.22 RPKM in Artery - Aorta
Total median expression: 241.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.20303-0.327 Picture PostScript Text
3' UTR -78.20323-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007829 - TM2

Pfam Domains:
PF05154 - TM2 domain

ModBase Predicted Comparative 3D Structure on Q9BX74
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
   Gene DetailsGene Details 
   Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0004930 G-protein coupled receptor activity

Biological Process:
GO:0006915 apoptotic process
GO:0007186 G-protein coupled receptor signaling pathway
GO:0097190 apoptotic signaling pathway

Cellular Component:
GO:0005654 nucleoplasm
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  HQ447153 - Synthetic construct Homo sapiens clone IMAGE:100070441; CCSB002107_03 TM2 domain containing 1 (TM2D1) gene, encodes complete protein.
KJ894917 - Synthetic construct Homo sapiens clone ccsbBroadEn_04311 TM2D1 gene, encodes complete protein.
BC048995 - Homo sapiens TM2 domain containing 1, mRNA (cDNA clone IMAGE:5261702).
BC029486 - Homo sapiens TM2 domain containing 1, mRNA (cDNA clone MGC:32941 IMAGE:5271098), complete cds.
AF353990 - Homo sapiens beta-amyloid binding protein precursor (BBP) mRNA, complete cds.
AK311444 - Homo sapiens cDNA, FLJ18486.
AK311705 - Homo sapiens cDNA, FLJ18747.
CU688668 - Synthetic construct Homo sapiens gateway clone IMAGE:100016766 5' read TM2D1 mRNA.
JD278293 - Sequence 259317 from Patent EP1572962.
JD425777 - Sequence 406801 from Patent EP1572962.
JD164656 - Sequence 145680 from Patent EP1572962.
JD271179 - Sequence 252203 from Patent EP1572962.
JD293677 - Sequence 274701 from Patent EP1572962.
JD137099 - Sequence 118123 from Patent EP1572962.
JD336888 - Sequence 317912 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDA8, BBP, NM_032027, NP_114416, Q9BX74, TM2D1_HUMAN
UCSC ID: uc001czz.1
RefSeq Accession: NM_032027
Protein: Q9BX74 (aka TM2D1_HUMAN)
CCDS: CCDS65554.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032027.2
exon count: 7CDS single in 3' UTR: no RNA size: 1250
ORF size: 624CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1534.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 1
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.