TM2D1 (TM2 domain containing 1)

Gene

• Entrez ID: 83941
• Gene name: TM2 domain containing 1
• Gene symbol: TM2D1
• Synonyms (NCBI Gene): BBP
• Chromosome: 1
• Chromosome location: 1p31.3
• 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 acti

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2127960	hsa-miR-3942-3p	CLIP-seq
MIRT2643101	hsa-miR-1276	CLIP-seq
MIRT2643102	hsa-miR-361-5p	CLIP-seq
MIRT2643103	hsa-miR-3675-3p	CLIP-seq
MIRT2643104	hsa-miR-3688-5p	CLIP-seq
MIRT2643105	hsa-miR-376a	CLIP-seq
MIRT2643106	hsa-miR-376b	CLIP-seq
MIRT2643107	hsa-miR-3976	CLIP-seq
MIRT2643108	hsa-miR-4311	CLIP-seq
MIRT2643109	hsa-miR-583	CLIP-seq
MIRT2643110	hsa-miR-759	CLIP-seq
MIRT2643111	hsa-miR-891b	CLIP-seq
MIRT2643101	hsa-miR-1276	CLIP-seq
MIRT2643102	hsa-miR-361-5p	CLIP-seq
MIRT2643103	hsa-miR-3675-3p	CLIP-seq
MIRT2643104	hsa-miR-3688-5p	CLIP-seq
MIRT2643105	hsa-miR-376a	CLIP-seq
MIRT2643106	hsa-miR-376b	CLIP-seq
MIRT2643108	hsa-miR-4311	CLIP-seq
MIRT2643109	hsa-miR-583	CLIP-seq
MIRT2643110	hsa-miR-759	CLIP-seq
MIRT2643111	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IBA
GO:0001540	Function	Amyloid-beta binding	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005886	Component	Plasma membrane	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0097190	Process	Apoptotic signaling pathway	IBA
GO:0097190	Process	Apoptotic signaling pathway	IEA

Other IDs

• MIM: 610080
• HGNC: 24142
• e!Ensembl: ENSG00000162604

Protein

• UniProt ID: Q9BX74
• Protein name: TM2 domain-containing protein 1 (Amyloid-beta-binding protein) (hBBP)
• Protein function: May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05154	TM2	117 → 166	TM2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11278849}.
• Sequence:

  MAAAWPSGPSAPEAVTARLVGVLWFVSVTTGPWGAVATSAGGEESLKCEDLKVGQYICKD
  PKINDATQEPVNCTNYTAHVSCFPAPNITCKDSSGNETHFTGNEVGFFKPISCRNVNGYS
  YKVAVALSLFLGWLGADRFYLGYPALGLLKFCTVGFCGIGSLIDFILISMQIVGPSDGSS
  YIIDYYGTRLTRLSITNETFRKTQLYP

• Sequence length: 207

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
APPENDICITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Osteomyelitis	Osteomyelitis	BEFREE	10642520		★☆☆☆☆ Found in Text Mining only