AutismKB 2.0

Annotation Details for MME


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Basic Information Top
Gene Symbol:MME ( CALLA,CD10,DKFZp686O16152,MGC126681,MGC126707,NEP )
Gene Full Name: membrane metallo-endopeptidase
Band: 3q25.2
Quick LinksEntrez ID:4311; OMIM: 120520; Uniprot ID:NEP_HUMAN; ENSEMBL ID: ENSG00000196549; HGNC ID: 7154
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm20876573
GO:0005886IDA-plasma membrane20876573
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane2521388
GO:0005903IDA-brush border22272689
GO:0005925IDA-focal adhesion21423176
GO:0008021ISS-synaptic vesicle-
GO:0016021NAS-integral component of membrane2968607
GO:0030424ISS-axon-
GO:0030425ISS-dendrite-
GO:0030667TAS-secretory granule membrane-
GO:0044306ISS-neuron projection terminus-
GO:0045202ISS-synapse-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0004175IDA-endopeptidase activity8168535
GO:0004175IMP-endopeptidase activity2531377
GO:0004222IDA-metalloendopeptidase activity15283675
GO:0004222IMP-metalloendopeptidase activity2521388
GO:0005515IPI-protein binding17342744
GO:0008237EXP-metallopeptidase activity15283675
GO:0008238IDA-exopeptidase activity6208535
GO:0008270IDA-zinc ion binding8168535
GO:0042277ISS-peptide binding-
GO ID Evidence Qualifier GO_term References
GO:0001822IEP-kidney development22272689
GO:0002003TAS-angiotensin maturation-
GO:0006508IDA-proteolysis8168535
GO:0006518ISS-peptide metabolic process-
GO:0019233ISS-sensory perception of pain-
GO:0043312TAS-neutrophil degranulation-
GO:0046449IMP-creatinine metabolic process22024547
GO:0050435ISS-amyloid-beta metabolic process-
GO:0071345IDA-cellular response to cytokine stimulus20876573
GO:0071492IDA-cellular response to UV-A20876573
GO:0071493IDA-cellular response to UV-B20876573
GO:0090399IEP-replicative senescence20876573
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MMECSNK2A11078418943850 Biochemical Activity
MMECSNK2A11104558943850 Biochemical Activity
MMELYN1102458943850 Affinity Capture-Western
MMELYN1104558943850 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
MMEIVS10-5C, IVS15+144, IVS17-294, IVS22+36, IVS3+106, MME_204, c401, rs1025192, rs10513467, rs10622201, rs11925306, rs13077421, rs13081581, rs1385477, rs16846960, rs1816558, rs1836915, rs2196521, rs34745881, rs35994024, rs3736187, rs3773882, rs3773885, rs3773906, rs3773907, rs4432598, rs5853711, rs6776185, rs6801319, rs701109, rs7623854, rs9834487, rs9853221, rs9881879, rs989692 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:97004
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018