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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) Band 1p31.3 Start 61,681,046 bp End 61,725,423 bp
Gene location (Mouse) Chr. Chromosome 4 (mouse) Band 4|4 C6 Start 98,243,607 bp End 98,271,543 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 83941 94043 Ensembl ENSG00000162604 ENSMUSG00000028563 UniProt Q9BX74 Q99MB3 RefSeq (mRNA) NM_032027 NM_053157 RefSeq (protein) NP_114416 NP_444387 Location (UCSC) Chr 1: 61.68 – 61.73 Mb Chr 4: 98.24 – 98.27 Mb PubMed search
Wikidata
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TM2 domain containing 1 is a protein that in humans is encoded by the TM2D1 gene.

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

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

Further reading

• 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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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