Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4311
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane metalloendopeptidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MME
Synonyms (NCBI Gene) Gene synonyms aliases
CALLA, CD10, CMT2T, NEP, SCA43, SFE
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149905705 C>T Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant
rs200435950 A>C Likely-pathogenic Genic downstream transcript variant, splice acceptor variant
rs749320057 C>- Pathogenic, risk-factor Frameshift variant, coding sequence variant, genic downstream transcript variant
rs764060752 C>T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, stop gained
rs765231758 A>G Pathogenic Genic downstream transcript variant, splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023833 hsa-miR-1-3p Microarray 18668037
MIRT029646 hsa-miR-26b-5p Microarray 19088304
MIRT1152994 hsa-miR-103a CLIP-seq
MIRT1152995 hsa-miR-107 CLIP-seq
MIRT1152996 hsa-miR-1184 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
HOXC6 Repression 15637592
MYC Activation 11519042
SP1 Unknown 14510963
SPI1 Unknown 15892171
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IDA 22183801
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development IEP 22272689
GO:0001890 Process Placenta development IEA
GO:0002003 Process Angiotensin maturation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120520 7154 ENSG00000196549
Protein
UniProt ID P08473
Protein name Neprilysin (EC 3.4.24.11) (Atriopeptidase) (Common acute lymphocytic leukemia antigen) (CALLA) (Enkephalinase) (Neutral endopeptidase 24.11) (NEP) (Neutral endopeptidase) (Skin fibroblast elastase) (SFE) (CD antigen CD10)
Protein function Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:6208535, PubMed:6349683, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- a
PDB 1DMT , 1R1H , 1R1I , 1R1J , 1Y8J , 2QPJ , 2YB9 , 4CTH , 5JMY , 6GID , 6SH1 , 6SH2 , 6SUK , 6SVY , 6THP , 6XVP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05649 Peptidase_M13_N 79 483 Peptidase family M13 Family
PF01431 Peptidase_M13 543 749 Peptidase family M13 Family
Sequence
Sequence length 750
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Renin-angiotensin system
Hematopoietic cell lineage
Protein digestion and absorption
Alzheimer disease
  Metabolism of Angiotensinogen to Angiotensins
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease axonal type 2T rs200435950, rs1057519023, rs1395068713, rs879253751, rs1553765316, rs879253752, rs765231758, rs1057519024, rs1559961997, rs765591205, rs1559963660, rs1190163112, rs886039755, rs201692212, rs749320057 N/A
Spinocerebellar Ataxia spinocerebellar ataxia 43 rs149905705, rs879255651, rs749320057 N/A
Peripheral Neuropathy peripheral neuropathy rs879253752 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Sclerosing Cholangitis Primary sclerosing cholangitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 18317569, 19019493, 32751344
Achalasia Addisonianism Alacrimia syndrome Stimulate 29785017
Achalasia Addisonianism Alacrimia syndrome Associate 32311849
Acute Coronary Syndrome Associate 36649888
Acute Kidney Injury Associate 36285332
Adenoameloblastoma Stimulate 25608772
Adenocarcinoma Stimulate 14736279
Adenocarcinoma Associate 25759539, 29704385, 32713922, 38062562
Adenocarcinoma Mucinous Associate 25759539, 34487022
Adenocarcinoma of Lung Associate 26141216