• Gene id: 83941

Gene Summary

• Gene Symbol: TM2D1   Gene   UCSC   Ensembl
• Aliases: BBP
• Gene name: TM2 domain containing 1
• Alternate names: TM2 domain-containing protein 1, Beta-amyloid peptide binding protein, amyloid-beta-binding protein, beta-amyloid-binding protein, hBBP,
• Gene location: 1p31.3 (61725422: 61681045)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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 acti
• OMIM: 610080

Protein Summary

• Protein general information: Q9BX74  
  • Name: TM2 domain containing protein 1 (Amyloid beta binding protein) (hBBP)
  • Length: 207  
  • Mass: 22327
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAAWPSGPSAPEAVTARLVGVLWFVSVTTGPWGAVATSAGGEESLKCEDLKVGQYICKDPKINDATQEPVNCTN
  YTAHVSCFPAPNITCKDSSGNETHFTGNEVGFFKPISCRNVNGYSYKVAVALSLFLGWLGADRFYLGYPALGLLK
  FCTVGFCGIGSLIDFILISMQIVGPSDGSSYIIDYYGTRLTRLSITNETFRKTQLYP

• Structural information:
  • Interpro: IPR007829  
  • STRING: ENSP00000475700
• Other Databases: GeneCards:  TM2D1  Malacards:  TM2D1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097190	apoptotic signaling pathway	IBA	biological process
GO:0001540	amyloid-beta binding	IBA	molecular function
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0001540	amyloid-beta binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)