TMEM127

TMEM127
Identifiers
Aliases	TMEM127, transmembrane protein 127
External IDs	OMIM: 613403 MGI: 1916720 HomoloGene: 9877 GeneCards: TMEM127
Gene location (Human)
Chr.	Chromosome 2 (human)[1]
End	96,265,997 bp[1]
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)[2]
End	127,103,027 bp[2]
RNA expression pattern
	Top expressed in
	monocyte; ; blood; ; left ventricle; ; stromal cell of endometrium; ; endothelial cell; ; gallbladder; ; right coronary artery; ; left adrenal gland; ; ascending aorta; ; periodontal fiber;
	Top expressed in
	otolith organ; ; utricle; ; ascending aorta; ; aortic valve; ; supraoptic nucleus; ; conjunctival fornix; ; facial motor nucleus; ; ciliary body; ; pineal gland; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function;
Cellular component	cytoplasm; integral component of membrane; plasma membrane; early endosome; membrane;
Biological process	regulation of TOR signaling; endosome organization; negative regulation of cell population proliferation; negative regulation of TOR signaling;
	Sources:Amigo / QuickGO
Orthologs
	55654
	69470
	ENSG00000135956
	ENSMUSG00000034850
	O75204
	Q8BGP5
	NM_032218; NM_001193304; NM_017849
	NM_175145; NM_001362704
	NP_001180233; NP_060319
	NP_780354; NP_001349633
	Wikidata
View/Edit Human	View/Edit Mouse

Transmembrane protein 127 (TMEM127) is a transmembrane protein which is encoded by the TMEM127 gene.[5] It has been demonstrated to be a negative regulator MTOR signalling.[6] TMEM127 is a tumor suppressor gene, inactivating germline mutations in which causes hereditary pheochromocytoma and paraganglioma.[6][7]

References

GRCh38: Ensembl release 89: ENSG00000135956 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000034850 - 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.
"TMEM127 transmembrane protein 127 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-03-09.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL (March 2010). "Germline mutations in TMEM127 confer susceptibility to pheochromocytoma". Nature Genetics. 42 (3): 229–33. doi:10.1038/ng.533. PMC 2998199. PMID 20154675.
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, Bertz H, Walz MK, Moeller LC, Schmid KW, Eng C (August 2011). "Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites". The Journal of Clinical Endocrinology and Metabolism. 96 (8): E1279-82. doi:10.1210/jc.2011-0114. PMID 21613359.

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