MMEL1 (membrane metalloendopeptidase like 1)

2014-11-01  

Identity

HGNC
LOCATION
1p36.32
LOCUSID
ALIAS
MMEL2,NEP2,NEPII,NL1,NL2,SEP
FUSION GENES

Other Information

Locus ID:

NCBI: 79258
MIM: 618104
HGNC: 14668
Ensembl: ENSG00000142606

Variants:

dbSNP: 79258
ClinVar: 79258
TCGA: ENSG00000142606
COSMIC: MMEL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142606ENST00000378412Q495T6
ENSG00000142606ENST00000471840J3KRD2
ENSG00000142606ENST00000502556Q495T6
ENSG00000142606ENST00000504800Q495T6

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201907522010Multiple common variants for celiac disease influencing immune gene expression.351
187948532008Common variants at CD40 and other loci confer risk of rheumatoid arthritis.199
206398792010Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.76
196749792010Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.21
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
204392922010Genetic variants in the prediction of rheumatoid arthritis.12
185391502008Human neprilysin-2 (NEP2) and NEP display distinct subcellular localisations and substrate preferences.10
220082642012Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.10
205744452010A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.9
217847282011Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.5

Citation

Dessen P

MMEL1 (membrane metalloendopeptidase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70349/mmel1-(membrane-metalloendopeptidase-like-1)