MMEL1 (membrane metalloendopeptidase like 1)

2014-11-01  

Identity

HGNC
MMEL1
LOCATION
1p36.32
LOCUSID
79258
ALIAS
MMEL2,NEP2,NEPII,NL1,NL2,SEP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
334915202022Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.2
334915202022Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population.2
268469032016In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity.1
268469032016In silico based investigation of dynamic variations in neprilysin (NEP and NEP2) proteins for extracting the point of specificity.1
268437072015Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.7
268437072015Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients.7
220082642012Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.16
220270132012Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.7
220082642012Altered NEP2 expression and activity in mild cognitive impairment and Alzheimer's disease.16
220270132012Genetic analysis of genes involved in amyloid-β degradation and clearance in Alzheimer's disease.7
217847282011Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.6
217847282011Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population.6
196749792010Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.26
200494102010A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis.8
201907522010Multiple 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