Identity
HGNC
LOCATION
1p36.32
LOCUSID
ALIAS
MMEL2,NEP2,NEPII,NL1,NL2,SEP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79258
MIM: 618104
HGNC: 14668
Ensembl: ENSG00000142606
Variants:
dbSNP: 79258
ClinVar: 79258
TCGA: ENSG00000142606
COSMIC: MMEL1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000142606 | ENST00000378412 | Q495T6 |
| ENSG00000142606 | ENST00000471840 | J3KRD2 |
| ENSG00000142606 | ENST00000502556 | Q495T6 |
| ENSG00000142606 | ENST00000504800 | Q495T6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33491520 | 2022 | Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population. | 2 |
| 33491520 | 2022 | Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population. | 2 |
| 26846903 | 2016 | In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity. | 1 |
| 26846903 | 2016 | In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity. | 1 |
| 26843707 | 2015 | Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients. | 7 |
| 26843707 | 2015 | Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients. | 7 |
| 22008264 | 2012 | Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease. | 16 |
| 22027013 | 2012 | Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease. | 7 |
| 22008264 | 2012 | Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease. | 16 |
| 22027013 | 2012 | Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease. | 7 |
| 21784728 | 2011 | Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population. | 6 |
| 21784728 | 2011 | Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population. | 6 |
| 19674979 | 2010 | Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. | 26 |
| 20049410 | 2010 | A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. | 8 |
| 20190752 | 2010 | Multiple common variants for celiac disease influencing immune gene expression. | 471 |
Citation
Dessen P
MMEL1 (membrane metalloendopeptidase like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70349/mmel1
