AutismKB 2.0

Annotation Details for ECE2


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Basic Information Top
Gene Symbol:ECE2 ( KIAA0604,MGC17664,MGC2408,MGC78487 )
Gene Full Name: endothelin converting enzyme 2
Band: 3q27.1
Quick LinksEntrez ID:9718; OMIM: 610145; Uniprot ID:ECE2_HUMAN; ENSEMBL ID: ENSG00000145194; HGNC ID: 13275
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139IEA-Golgi membrane-
GO:0016021IEA-integral component of membrane-
GO:0030658TAS-transport vesicle membrane-
GO:0030659IDA-cytoplasmic vesicle membrane11718899
GO ID Evidence Qualifier GO_term References
GO:0004222IDA-metalloendopeptidase activity11718899
GO:0004222TAS-metalloendopeptidase activity-
GO:0005515IPI-protein binding25416956
GO:0008168IEA-methyltransferase activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007267TAS-cell-cell signaling11718899
GO:0007420ISS-brain development-
GO:0007507ISS-heart development-
GO:0010002ISS-cardioblast differentiation-
GO:0016486IDA-peptide hormone processing11718899
GO:0032259IEA-methylation-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1101356
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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