Property Summary

NCBI Gene PubMed Count 28
PubMed Score 32.03
PubTator Score 60.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Gene RIF (13)

PMID Text
26843707 MMEL1 518 Met/Thr polymorphism contributes to celiac disease risk among Saudi Arabians, both in single and also in synergistic cooperation with SH2B3 gene marker.
22027013 Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.
22008264 The NEP2 expression and activity are altered in MCI is significant as these changes may potentially serve as preclinical markers for AD and reduced NEP2 activity may be associated with the development of Alzheimer's disease.
21784728 This study identifies MMEL1 and CTLA4 as RA susceptibility genes, in Han Chinese popilation.
20639879 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20574445 A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 in multiple sclerosis susceptibility.
20439292 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20190752 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20049410 Observational study of gene-disease association. (HuGE Navigator)
19674979 Observational study of gene-disease association. (HuGE Navigator)
18794853 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
18539150 NEP2 substrate specificity and inhibitor binding was distinct from that of human NEP, suggesting that NEP and NEP2 play distinct physiological roles in humans.

AA Sequence

MGKSEGPVGMVESAGRAGQKRPGFLEGGLLLLLLLVTAALVALGVLYADRRGKQLPRLASRLCFLQEERT      1 - 70
FVKRKPRGIPEAQEVSEVCTTPGCVIAAARILQNMDPTTEPCDDFYQFACGGWLRRHVIPETNSRYSIFD     71 - 140
VLRDELEVILKAVLENSTAKDRPAVEKARTLYRSCMNQSVIEKRGSQPLLDILEVVGGWPVAMDRWNETV    141 - 210
GLEWELERQLALMNSQFNRRVLIDLFIWNDDQNSSRHIIYIDQPTLGMPSREYYFNGGSNRKVREAYLQF    211 - 280
MVSVATLLREDANLPRDSCLVQEDMVQVLELETQLAKATVPQEERHDVIALYHRMGLEELQSQFGLKGFN    281 - 350
WTLFIQTVLSSVKIKLLPDEEVVVYGIPYLQNLENIIDTYSARTIQNYLVWRLVLDRIGSLSQRFKDTRV    351 - 420
NYRKALFGTMVEEVRWRECVGYVNSNMENAVGSLYVREAFPGDSKSMVRELIDKVRTVFVETLDELGWMD    421 - 490
EESKKKAQEKAMSIREQIGHPDYILEEMNRRLDEEYSNLNFSEDLYFENSLQNLKVGAQRSLRKLREKVD    491 - 560
PNLWIIGAAVVNAFYSPNRNQIVFPAGILQPPFFSKEQPQALNFGGIGMVIGHEITHGFDDNGRNFDKNG    561 - 630
NMMDWWSNFSTQHFREQSECMIYQYGNYSWDLADEQNVNGFNTLGENIADNGGVRQAYKAYLKWMAEGGK    631 - 700
DQQLPGLDLTHEQLFFINYAQVWCGSYRPEFAIQSIKTDVHSPLKYRVLGSLQNLAAFADTFHCARGTPM    701 - 770
HPKERCRVW                                                                 771 - 779
//

Text Mined References (28)

PMID Year Title
26843707 2015 Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.
24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
22027013 2012 Genetic analysis of genes involved in amyloid-? degradation and clearance in Alzheimer's disease.
22008264 2012 Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
21784728 2011 Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
20639879 2010 Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20574445 2010 A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
20439292 2010 Genetic variants in the prediction of rheumatoid arthritis.
20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
20049410 2010 A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis.
19674979 2010 Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
18794853 2008 Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
18539150 2008 Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15121861 2004 Reduced fertility in male mice deficient in the zinc metallopeptidase NL1.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11560781 2001 Molecular cloning, tissue distribution, and chromosomal localization of MMEL2, a gene coding for a novel human member of the neutral endopeptidase-24.11 family.
10542292 1999 Molecular identification and characterization of novel membrane-bound metalloprotease, the soluble secreted form of which hydrolyzes a variety of vasoactive peptides.