MME Gene (Protein Coding)

Membrane Metalloendopeptidase

GC03P155024
GIFtS:
52
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 leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, ho... See more...

Aliases for MME Gene

Aliases for MME Gene

  • Membrane Metalloendopeptidase 2 3 5
  • Neprilysin 2 3 4
  • 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 3.4.24.11 4 54
  • 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 54
  • 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

  • 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 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. 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. [provided by RefSeq, Aug 2017]

GeneCards Summary for MME Gene

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

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MME Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MME Gene

Genomics for MME Gene

GeneHancer (GH) Regulatory Elements for MME Gene

Promoters and enhancers for MME Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J155077 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 767.6 +56.7 56723 5.8 ZBTB6 RAD21 ZNF148 SP1 MLLT1 PRDM1 IKZF1 GLIS2 POLR2A RNF2 MME NONHSAG036451.2 RF00017-4146
GH03J155022 Enhancer 0.8 Ensembl ENCODE 755.4 -0.7 -670 2 ZBTB40 CTBP1 ZNF362 ZNF384 CREB1 PKNOX1 POLR2A RFX1 MNT DPF2 MME piR-53338-096
GH03J154994 Enhancer 0.9 FANTOM5 Ensembl ENCODE 26.4 -24.8 -24823 9 ZNF217 HLF CTBP1 DPF2 CEBPB MME ENSG00000243969 piR-32325-105 piR-33905-060
GH03J155068 Enhancer 1.4 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +46.5 46499 4 L3MBTL2 ZNF639 TRIM24 POLR2A ZNF24 MGA FOS GABPA MNT FOSL1 MME NONHSAG036451.2
GH03J154969 Enhancer 0.9 FANTOM5 Ensembl ENCODE 18.7 -52.5 -52523 4 CEBPG TRIM24 CEBPB JUND NFE2 EP300 FOS ATF2 MAFK CBFA2T3 ENSG00000243953 LOC105374171 MME MME-AS1 ENSG00000243969 piR-33905-060
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MME on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MME gene promoter:
  • AP-1

Genomic Locations for MME Gene

Genomic Locations for MME Gene
chr3:155,024,124-155,183,729
(GRCh38/hg38)
Size:
159,606 bases
Orientation:
Plus strand
chr3:154,741,913-154,901,518
(GRCh37/hg19)
Size:
159,606 bases
Orientation:
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 Structure • Gene Density

RefSeq DNA sequence for MME Gene

Proteins for MME Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P08473-NEP_HUMAN
    Recommended name:
    Neprilysin
    Protein Accession:
    P08473
    Secondary Accessions:
    • A8K6U6
    • D3DNJ9
    • Q3MIX4

    Protein attributes for MME Gene

    Size:
    750 amino acids
    Molecular mass:
    85514 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Important cell surface marker in the diagnostic of human acute lymphocytic leukemia.
    SequenceCaution:
    • 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

Protein Expression for MME Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MME Gene

P08473:
  • SIKTDVHSP
  • FVGTDDKNS
  • NFTNEIMSTVNI
  • AVVNAFYS
  • EYFENIIQNLKFSQSKQLKKLREKVDKDEWISGAAVVNAF
  • SRNAFRKALYGTTSE
  • GQAYRAYQNY
  • EPCTDFFKYACGGWLKRNVIPETSSRY
  • AYRAYQN
  • QNNFSLE
  • LGLPSRDYY
  • LKDVLQEPKTEDIVAVQKAK
  • KLKPILTKY
  • LNYGGIG
  • VIGHEITHGFDD
  • FPAGILQ
  • TLGENIADNGG
  • NKLNNEYLELNY
  • FPAGILQPPFFS
  • TPLEISL

Post-translational modifications for MME Gene

  • Myristoylation is a determinant of membrane targeting.
  • Glycosylation at Asn-628 is necessary both for surface expression and neutral endopeptidase activity.
  • Glycosylation at Asn145, Asn285, Asn325, and Asn628
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for MME Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MME

Domains & Families for MME Gene

Gene Families for MME Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MME Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MME Gene

GenScript: Design optimal peptide antigens:
  • Membrane metallo-endopeptidase (B7ZKY6_HUMAN)
  • Skin fibroblast elastase (NEP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P08473

UniProtKB/Swiss-Prot:

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

Function for MME Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MME Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Preferential cleavage of polypeptides between hydrophobic residues, particularly with Phe or Tyr at P1'.; EC=3.4.24.11; Evidence={ECO:0000269 PubMed:15283675, ECO:0000269 PubMed:27588448, ECO:0000269 PubMed:8168535};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in a dose dependent manner by opiorphin.
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};
GENATLAS Biochemistry:
zinc metallopeptidase,membrane (neutral endopeptidase 24.11,enkephalinase),constitutively expressed in various tissues,developmentally regulated in other cell types,i.e. lymphocytes

Enzyme Numbers (IUBMB) for MME Gene

Phenotypes From GWAS Catalog for MME Gene

Gene Ontology (GO) - Molecular Function for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IDA 22183801
GO:0004175 endopeptidase activity IGI,IMP 2531377
GO:0004222 metalloendopeptidase activity IEA,IMP 2521388
GO:0005515 protein binding IPI 17342744
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MME: view
genes like me logo Genes that share phenotypes with MME: view

Human Phenotype Ontology for MME Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MME Gene

MGI Knock Outs for MME:
  • Mme Mme<tm1Cge>

Animal Model Products

CRISPR Products

miRNA for MME Gene

miRTarBase miRNAs that target MME

Clone Products

  • Addgene plasmids for MME

No data available for 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

COMPARTMENTS
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
endosome 4
golgi apparatus 4
cytoskeleton 3
extracellular 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 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:0005769 early endosome IDA 15100223
GO:0005802 trans-Golgi network IDA 15100223
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 2521388
genes like me logo Genes that share ontologies with MME: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MME Gene

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:
Other effect:

Gene Ontology (GO) - Biological Process for MME Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEP 22272689
GO:0001890 placenta development IEA --
GO:0002003 angiotensin maturation TAS --
GO:0006508 proteolysis IMP,IEA 19057576
GO:0006518 peptide metabolic process ISS --
genes like me logo Genes that share ontologies with MME: view

Drugs & Compounds for MME Gene

Products:

  1. Drug

(95) 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, Investigational Pharma 2741
Liraglutide Approved Pharma Full agonist, Agonist, Enzyme, substrate 392
Sacubitril Approved Pharma Target, antagonist, inhibitor 0
Semaglutide Approved, Investigational Pharma Enzyme, substrate 0
Candoxatril Experimental Pharma Target, inhibitor 0

(52) 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

Transcripts for MME Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MME Gene

(7) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(145) Selected AceView cDNA sequences:
(18) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MME

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

No ASD Table

Relevant External Links for MME Gene

GeneLoc Exon Structure for
MME
ECgene alternative splicing isoforms for
MME

Expression for MME Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MME Gene
mRNA expression by GTEx for MME GenemRNA expression by BioGPS 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, MaxQB, and MOPED for MME Gene



NURSA nuclear receptor signaling pathways regulating expression of MME Gene:

MME

SOURCE GeneReport for Unigene cluster for MME Gene:

Hs.307734

Evidence on tissue expression from TISSUES for MME Gene

  • Kidney(4.9)
  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(3.4)
  • Bone marrow(3.3)
  • 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

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
chimpanzee
(Pan troglodytes)
 Mammalia MME 33 32
  • 99.6 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MME 33 32
  • 91.41 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mme 32
  • 91.02 (n)
mouse
(Mus musculus)
 Mammalia Mme 17 33 32
  • 90.89 (n)
cow
(Bos Taurus)
 Mammalia MME 33 32
  • 90.89 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 89 (a)
 OneToMany
-- 33
  • 77 (a)
 OneToMany
-- 33
  • 75 (a)
 OneToMany
-- 33
  • 73 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia MME 33
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MME 33 32
  • 77.29 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MME 33
  • 75 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG6265 34
  • 45 (a)
Nep1 33 34
  • 34 (a)
 ManyToMany
Nep2 33 34
  • 32 (a)
 ManyToMany
CG8358 34
  • 31 (a)
Nep4 33 34
  • 26 (a)
 ManyToMany
BcDNA:GH07188 34
  • 25 (a)
CG14527 34
  • 25 (a)
CG5527 34
  • 25 (a)
CG14528 34
  • 25 (a)
CG4721 34
  • 24 (a)
CG14529 34
  • 24 (a)
worm
(Caenorhabditis elegans)
 Secernentea nep-2 33
  • 36 (a)
 ManyToMany
T05A8.4 34
  • 36 (a)
nep-1 33
  • 31 (a)
 ManyToMany
T16A9.4 34
  • 31 (a)
nep-11 33
  • 30 (a)
 ManyToMany
F26G1.6 34
  • 29 (a)
F54F11.2 34
  • 27 (a)
T25B6.2 34
  • 23 (a)
F18A12.1 34
  • 22 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 38 (a)
 OneToMany
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

ENSEMBL:
Gene Tree for MME (if available)
TreeFam:
Gene Tree for MME (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MME: view image

Paralogs for MME Gene

Paralogs for MME Gene

(5) SIMAP similar genes for MME Gene using alignment to 11 proteins:

  • NEP_HUMAN
  • B7ZKY6_HUMAN
  • C9IYX7_HUMAN
  • C9J7X4_HUMAN
  • C9J9X7_HUMAN
  • C9JDZ3_HUMAN
  • C9JR96_HUMAN
  • L7Z660_HUMAN
  • L7ZC27_HUMAN
  • L8E8E1_HUMAN
  • Q3KQS6_HUMAN
genes like me logo Genes that share paralogs with MME: view

Variants for MME Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MME Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1057519023 pathogenic, Charcot-Marie-Tooth disease, axonal, type 2T 155,116,987(+) G/A genic_downstream_transcript_variant, splice_donor_variant
rs1057519024 pathogenic, Charcot-Marie-Tooth disease, axonal, type 2T 155,116,561(+) T/A genic_downstream_transcript_variant, splice_donor_variant
rs1060499935 uncertain-significance, Charcot-Marie-Tooth disease, axonal, type 2T 155,143,523(+) GGGG/GGG coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs138218277 Charcot-Marie-Tooth disease 2T (CMT2T) [MIM:617017] 155,142,073(+) A/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs145687755 uncertain-significance, Autosomal recessive axonal hereditary motor and sensory neuropathy 155,138,150(+) C/A/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

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)

Additional Variant Information for MME Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MME Gene

MalaCards: The human disease database

(135) MalaCards diseases for MME Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2t
  • cmt2t
spinocerebellar ataxia 43
  • sca43
membranous nephropathy
  • membranous nephropathy, susceptibility to
adenosarcoma
  • mullerian adenosarcoma
charcot-marie-tooth disease, axonal, type 2e
  • cmt2e
- elite association - COSMIC cancer census association via MalaCards
Search MME in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NEP_HUMAN
  • 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.

Additional Disease Information for MME

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 XH … Luo XM (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010) 3 23 43 56
  2. Lack of association of neprilysin gene polymorphisms with Alzheimer's disease in a southern Chinese community. (PMID: 19250583) Fu Y … Zhao ZH (International psychogeriatrics 2009) 3 23 43 56
  3. Structure of human neutral endopeptidase (Neprilysin) complexed with phosphoramidon. (PMID: 10669592) Oefner C … Dale GE (Journal of molecular biology 2000) 3 4 23 56
  4. Asp650 is crucial for catalytic activity of neutral endopeptidase 24-11. (PMID: 8168535) Le Moual H … Boileau G (European journal of biochemistry 1994) 3 4 23 56
  5. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. (PMID: 27588448) Auer-Grumbach M … Senderek J (American journal of human genetics 2016) 3 4 56

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