Tm2 domain containing 1

TM2D1
Identifiers
Aliases	TM2D1, BBP, TM2 domain containing 1
External IDs	OMIM: 610080; MGI: 2137022; HomoloGene: 12928; GeneCards: TM2D1; OMA:TM2D1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	61,725,423 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	98,271,543 bp
RNA expression pattern
	Top expressed in
	endothelial cell; ; Achilles tendon; ; Epithelium of choroid plexus; ; germinal epithelium; ; oocyte; ; Descending thoracic aorta; ; parotid gland; ; mucosa of paranasal sinus; ; ascending aorta; ; corpus epididymis;
	Top expressed in
	proximal tubule; ; right kidney; ; quadriceps femoris muscle; ; neural tube; ; yolk sac; ; skeletal muscle tissue; ; spermatid; ; stomach; ; mesencephalon; ; heart;
	More reference expression data
	n/a
Gene ontology
Molecular function	amyloid-beta binding; G protein-coupled receptor activity;
Cellular component	integral component of plasma membrane; membrane; integral component of membrane; nucleoplasm;
Biological process	apoptotic process; apoptotic signaling pathway; G protein-coupled receptor signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	83941
	94043
	ENSG00000162604
	ENSMUSG00000028563
	Q9BX74
	Q99MB3
	NM_032027
	NM_053157
	NP_114416
	NP_444387
	Wikidata
View/Edit Human	View/Edit Mouse

TM2 domain containing 1 is a protein that in humans is encoded by the TM2D1 gene. ^[5]

Function

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162604 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028563 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: TM2 domain containing 1". Retrieved 2017-05-19.

Kirfel G, Borm B, Rigort A, Herzog V (2002). "The secretory beta-amyloid precursor protein is a motogen for human epidermal keratinocytes". Eur. J. Cell Biol. 81 (12): 664–76. doi:10.1078/0171-9335-00284. PMID 12553667.
Lee Y, Chang DJ, Lee YS, Chang KA, Kim H, Yoon JS, Lee S, Suh YH, Kaang BK (2003). "Beta-amyloid peptide binding protein does not couple to G protein in a heterologous Xenopus expression system". J. Neurosci. Res. 73 (2): 255–9. doi:10.1002/jnr.10652. PMID 12836168. S2CID 32419466.