Property Summary

NCBI Gene PubMed Count 19
PubMed Score 29.84
PubTator Score 15.05

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9HBJ8 B2R9M1 Q6UW07
Symbols NX17
NX-17

Gene

Gene RIF (8)

PMID Text
24693993 Tmem27 is present in human serum and its levels are significantly lower in subjects with autoimmune diabetes as compared to healthy individuals.
22628310 Tmem27 dimerization is a dynamic process involving Bace2
21907142 Bace2 specifically targets Tmem27 and cleaves its extracellular domain, which is then shed from the plasma membrane of pancreatic beta cells.
21814048 Collectrin and ACE2 in renal and intestinal amino acid transport.
20386877 Data support a role for TMEM27 in glucose-induced insulin secretion but not in cell proliferation. The finding that its cleavage is not specific to beta cells challenges the current support for its use as a potential beta cell mass biomarker.
19582483 No TMEM27 gene mutations were discovered among 26 patients showing a phenotype resembling Dent's disease
19417552 the first human study of the gene TMEM27 and an attempt to shine a light on genotype-phenotype correlation in Turner syndrome patients.
17693757 Collectrin has a role in amino acid transpor in the kidney [review]

AA Sequence

MLWLLFFLVTAIHAELCQPGAENAFKVRLSIRTALGDKAYAWDTNEEYLFKAMVAFSMRKVPNREATEIS      1 - 70
HVLLCNVTQRVSFWFVVTDPSKNHTLPAVEVQSAIRMNKNRINNAFFLNDQTLEFLKIPSTLAPPMDPSV     71 - 140
PIWIIIFGVIFCIIIVAIALLILSGIWQRRRKNKEPSEVDDAEDKCENMITIENGIPSDPLDMKGGHIND    141 - 210
AFMTEDERLTPL                                                              211 - 222
//

Text Mined References (20)

PMID Year Title
24693993 2014 Tmem27 is upregulated by vitamin D in INS-1 cells and its serum concentrations are low in patients with autoimmune diabetes.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22790173 2012 Multimodal imaging of pancreatic beta cells in vivo by targeting transmembrane protein 27 (TMEM27).
22628310 2012 Tmem27 dimerization, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleavage by Bace2.
21947380 2012 Pancreatic islet and progenitor cell surface markers with cell sorting potential.
21907142 2011 Bace2 is a ? cell-enriched protease that regulates pancreatic ? cell function and mass.
21814048 Collectrin and ACE2 in renal and intestinal amino acid transport.
20386877 2010 The role of transmembrane protein 27 (TMEM27) in islet physiology and its potential use as a beta cell mass biomarker.
19763395 2010 Not just angiotensinases: new roles for the angiotensin-converting enzymes.
19582483 2009 Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.
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