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Aliases for MME Gene

Aliases for MME Gene

  • Membrane Metalloendopeptidase 2 3 5
  • Common Acute Lymphocytic Leukemia Antigen 3 4
  • Neutral Endopeptidase 24.11 3 4
  • Skin Fibroblast Elastase 3 4
  • Neutral Endopeptidase 2 4
  • Atriopeptidase 3 4
  • Enkephalinase 2 4
  • EC 4 61
  • Neprilysin 2 3
  • CALLA 3 4
  • NEP 3 4
  • SFE 3 4
  • Membrane Metallo-Endopeptidase (Neutral Endopeptidase, Enkephalinase, CALLA, CD10) 3
  • Membrane Metallo-Endopeptidase Variant 1 3
  • Membrane Metallo-Endopeptidase Variant 2 3
  • Neprilysin-390 3
  • Neprilysin-411 3
  • CD10 Antigen 4
  • EC 3.4.24 61
  • CMT2T 3
  • SCA43 3
  • CD10 3
  • EPN 4

External Ids for MME Gene

Previous GeneCards Identifiers for MME Gene

  • GC03P151792
  • GC03P155641
  • GC03P156079
  • GC03P156118
  • GC03P156280
  • GC03P154741
  • GC03P152191

Summaries for MME Gene

Entrez Gene Summary for MME Gene

  • This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]

GeneCards Summary for MME Gene

MME (Membrane Metalloendopeptidase) is a Protein Coding gene. Diseases associated with MME include Charcot-Marie-Tooth Disease Type 2T and Spinocerebellar Ataxia 43. Among its related pathways are Collagen chain trimerization and Innate Immune System. GO annotations related to this gene include peptidase activity and endopeptidase activity. An important paralog of this gene is MMEL1.

UniProtKB/Swiss-Prot for MME Gene

  • Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).

Tocris Summary for MME Gene

Gene Wiki entry for MME Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MME Gene

Genomics for MME Gene

Regulatory Elements for MME Gene

Enhancers for MME Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G155077 1.4 Ensembl ENCODE dbSUPER 17.6 +56.7 56723 5.8 PKNOX1 RB1 ZSCAN4 SIN3A ZNF76 RAD21 YY1 GLIS2 ZNF366 FOS MME MME-AS1
GH03G154969 1.2 FANTOM5 Ensembl ENCODE 18.7 -53.0 -52977 2.9 FOXA2 CEBPB CEBPG EP300 JUND GATA3 HMBOX1 FOS TRIM24 NFE2 MME MME-AS1 LOC105374171
GH03G155064 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +41.5 41532 2.4 FOSL1 PKNOX1 ATF3 PBX2 BHLHE40 HMBOX1 CEBPB CEBPG MME MME-AS1
GH03G155129 1.5 Ensembl ENCODE dbSUPER 10.4 +107.4 107376 3.1 PKNOX1 ATF1 CREB3L1 ARNT E2F7 TCF12 ZNF766 ELK1 GATA2 FOS MME MME-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MME on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the MME gene promoter:

Genomic Location for MME Gene

155,024,124 bp from pter
155,183,729 bp from pter
159,606 bases
Plus strand

Genomic View for MME Gene

Genes around MME on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MME Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MME Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MME Gene

Proteins for MME Gene

  • Protein details for MME Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A8K6U6
    • D3DNJ9
    • Q3MIX4

    Protein attributes for MME Gene

    750 amino acids
    Molecular mass:
    85514 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    • Important cell surface marker in the diagnostic of human acute lymphocytic leukemia.
    • Sequence=CAA30157.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MME Gene

neXtProt entry for MME Gene

Selected DME Specific Peptides for MME Gene


Post-translational modifications for MME Gene

  • Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.
  • Myristoylation is a determinant of membrane targeting.
  • Glycosylation at Asn145, Asn285, posLast=325325, and posLast=628628
  • Modification sites at PhosphoSitePlus

Assay Products

  • Cloud-Clone Corp. Assay Kits for MME

Domains & Families for MME Gene

Gene Families for MME Gene

Suggested Antigen Peptide Sequences for MME Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M13 family.
  • Belongs to the peptidase M13 family.
genes like me logo Genes that share domains with MME: view

Function for MME Gene

Molecular function for MME Gene

GENATLAS Biochemistry:
zinc metallopeptidase,membrane (neutral endopeptidase 24.11,enkephalinase),constitutively expressed in various tissues,developmentally regulated in other cell types,i.e. lymphocytes
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=55.1 uM for angiotensin-1 {ECO:0000269 PubMed:15283675}; KM=179 uM for angiotensin-2 {ECO:0000269 PubMed:15283675}; KM=111.4 uM for angiotensin 1-9 {ECO:0000269 PubMed:15283675};
UniProtKB/Swiss-Prot CatalyticActivity:
Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in a dose dependent manner by opiorphin.
UniProtKB/Swiss-Prot Function:
Thermolysin-like specificity, but is almost confined on acting on polypeptides of up to 30 amino acids (PubMed:15283675, PubMed:8168535). Biologically important in the destruction of opioid peptides such as Met- and Leu-enkephalins by cleavage of a Gly-Phe bond (PubMed:17101991). Able to cleave angiotensin-1, angiotensin-2 and angiotensin 1-9 (PubMed:15283675). Involved in the degradation of atrial natriuretic factor (ANF) (PubMed:2531377, PubMed:2972276). Displays UV-inducible elastase activity toward skin preelastic and elastic fibers (PubMed:20876573).

Enzyme Numbers (IUBMB) for MME Gene

Gene Ontology (GO) - Molecular Function for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IMP 2531377
GO:0004222 metalloendopeptidase activity IMP 2521388
GO:0005515 protein binding IPI 17342744
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity EXP 15283675
genes like me logo Genes that share ontologies with MME: view
genes like me logo Genes that share phenotypes with MME: view

Animal Models for MME Gene

MGI Knock Outs for MME:

Animal Model Products

CRISPR Products

miRNA for MME Gene

miRTarBase miRNAs that target MME

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MME Gene

Localization for MME Gene

Subcellular locations from UniProtKB/Swiss-Prot for MME Gene

Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MME gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 20876573
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 2521388
GO:0005903 brush border IDA 22272689
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with MME: view

Pathways & Interactions for MME Gene

genes like me logo Genes that share pathways with MME: view

SIGNOR curated interactions for MME Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEP 22272689
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IDA 8168535
GO:0006518 peptide metabolic process ISS --
GO:0019233 sensory perception of pain ISS --
genes like me logo Genes that share ontologies with MME: view

Drugs & Compounds for MME Gene

(88) Drugs for MME Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2296
Liraglutide Approved Pharma Full agonist, Agonist, Enzyme, substrate 329
Sacubitril Approved Pharma Target, antagonist, inhibitor 0
Candoxatril Experimental Pharma inhibitor, Target 0
Thiorphan Experimental Pharma Inhibition, Inhibitor, Target, inhibitor 5

(53) Additional Compounds for MME Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) ApexBio Compounds for MME Gene

Compound Action Cas Number
AHU-377 hemicalcium salt Potent neprilysin inhibitor 1369773-39-6
AHU-377(Sacubitril) Neprilysin inhibitor 149709-62-6
Phosphoramidon Disodium Salt 164204-38-0
Racecadotril 81110-73-8
genes like me logo Genes that share compounds with MME: view

Drug Products

Transcripts for MME Gene

Unigene Clusters for MME Gene

Membrane metallo-endopeptidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MME Gene

No ASD Table

Relevant External Links for MME Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MME Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MME Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MME Gene

This gene is overexpressed in Whole Blood (x5.4).

Protein differential expression in normal tissues from HIPED for MME Gene

This gene is overexpressed in Urine (32.3), Pancreatic juice (19.6), and Kidney (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MME Gene

NURSA nuclear receptor signaling pathways regulating expression of MME Gene:


SOURCE GeneReport for Unigene cluster for MME Gene:


Evidence on tissue expression from TISSUES for MME Gene

  • Kidney(4.9)
  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(3.4)
  • Bone marrow(3.2)
  • Lymph node(3.2)
  • Lung(3)
  • Muscle(2.9)
  • Skin(2.8)
  • Intestine(2.7)
  • Heart(2.6)
  • Stomach(2.5)
  • Bone(2.4)
  • Spleen(2.3)
genes like me logo Genes that share expression patterns with MME: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MME Gene

Orthologs for MME Gene

This gene was present in the common ancestor of animals.

Orthologs for MME Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MME 34 35
  • 99.6 (n)
(Canis familiaris)
Mammalia MME 34 35
  • 91.41 (n)
(Rattus norvegicus)
Mammalia Mme 34
  • 91.02 (n)
(Bos Taurus)
Mammalia MME 34 35
  • 90.89 (n)
(Mus musculus)
Mammalia Mme 34 16 35
  • 90.89 (n)
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 89 (a)
-- 35
  • 77 (a)
-- 35
  • 75 (a)
-- 35
  • 73 (a)
(Monodelphis domestica)
Mammalia MME 35
  • 88 (a)
(Gallus gallus)
Aves MME 34 35
  • 77.29 (n)
(Anolis carolinensis)
Reptilia MME 35
  • 75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6265 36
  • 45 (a)
Nep1 36 35
  • 41 (a)
Nep2 36 35
  • 35 (a)
Nep4 36 35
  • 35 (a)
CG8358 36
  • 31 (a)
BcDNA:GH07188 36
  • 25 (a)
CG14527 36
  • 25 (a)
CG14528 36
  • 25 (a)
CG5527 36
  • 25 (a)
CG14529 36
  • 24 (a)
CG4721 36
  • 24 (a)
(Caenorhabditis elegans)
Secernentea T05A8.4 36
  • 36 (a)
nep-2 35
  • 36 (a)
T16A9.4 36
  • 31 (a)
nep-1 35
  • 31 (a)
nep-11 35
  • 30 (a)
F26G1.6 36
  • 29 (a)
F54F11.2 36
  • 27 (a)
T25B6.2 36
  • 23 (a)
F18A12.1 36
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
Species where no ortholog for MME was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MME Gene

Gene Tree for MME (if available)
Gene Tree for MME (if available)

Paralogs for MME Gene

Paralogs for MME Gene

genes like me logo Genes that share paralogs with MME: view

Variants for MME Gene

Sequence variations from dbSNP and Humsavar for MME Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs138218277 Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017] 155,142,073(+) TGTTT(A/G)TGCTC reference, missense
rs199567914 Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017] 155,142,075(+) TTTAT(C/G)CTCCA reference, missense
rs777476150 other, Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017] 155,143,519(+) AAATG(A/C)TGTGG reference, missense
VAR_077684 Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]
VAR_077685 Spinocerebellar ataxia 43 (SCA43) [MIM:617018]

Structural Variations from Database of Genomic Variants (DGV) for MME Gene

Variant ID Type Subtype PubMed ID
esv3598262 CNV loss 21293372
esv3598264 CNV loss 21293372
nsv1000140 CNV loss 25217958
nsv474350 CNV novel sequence insertion 20440878
nsv829762 CNV gain 17160897

Variation tolerance for MME Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MME Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MME Gene

Disorders for MME Gene

MalaCards: The human disease database

(121) MalaCards diseases for MME Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease type 2t
  • ar-cmt2t
spinocerebellar ataxia 43
  • sca43
membranous nephropathy
  • membranous glomerulonephritis, antenatal
acute lymphocytic leukemia
  • acute lymphoblastic leukemia
  • mullerian adenosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search MME in MalaCards View complete list of genes associated with diseases


  • Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. {ECO:0000269 PubMed:26991897, ECO:0000269 PubMed:27588448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinocerebellar ataxia 43 (SCA43) [MIM:617018]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA43 is a slowly progressive, autosomal dominant form. {ECO:0000269 PubMed:27583304}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MME

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MME: view

No data available for Genatlas for MME Gene

Publications for MME Gene

  1. [Association of the neprilysin and apolipoprotein E gene polymorphisms with Alzheimer's disease in Xinjiang Uygur population]. (PMID: 20376800) Zhou X.H. … Luo X.M. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010) 3 22 46 64
  2. Lack of association of neprilysin gene polymorphisms with Alzheimer's disease in a southern Chinese community. (PMID: 19250583) Fu Y. … Zhao Z.H. (Int Psychogeriatr 2009) 3 22 46 64
  3. Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon. (PMID: 10669592) Oefner C. … Dale G.E. (J. Mol. Biol. 2000) 3 4 22 64
  4. Asp650 is crucial for catalytic activity of neutral endopeptidase 24- 11. (PMID: 8168535) Le Moual H. … Boileau G. (Eur. J. Biochem. 1994) 3 4 22 64
  5. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. (PMID: 27588448) Auer-Grumbach M. … Senderek J. (Am. J. Hum. Genet. 2016) 3 4 64

Products for MME Gene

  • Addgene plasmids for MME

Sources for MME Gene

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