AutismKB 2.0

Annotation Details for ECM1


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Basic Information Top
Gene Symbol:ECM1 ( - )
Gene Full Name: extracellular matrix protein 1
Band: 1q21.2
Quick LinksEntrez ID:1893; OMIM: 602201; Uniprot ID:ECM1_HUMAN; ENSEMBL ID: ENSG00000143369; HGNC ID: 3153
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005578NAS-proteinaceous extracellular matrix9367673
GO:0005615IEA-extracellular space-
GO:0031012IDA-extracellular matrix20870722
GO:0031089TAS-platelet dense granule lumen-
GO:0070062IDA-extracellular exosome19199708
GO ID Evidence Qualifier GO_term References
GO:0002020IPI-protease binding16512877
GO:0004871IMP-signal transducer activity12761501
GO:0005134IEA-interleukin-2 receptor binding-
GO:0005515IPI-protein binding19275936
GO:0008022IPI-protein C-terminus binding12604605
GO:0019899IPI-enzyme binding20870722
GO:0043236IPI-laminin binding19275936
GO ID Evidence Qualifier GO_term References
GO:0001503IEA-ossification-
GO:0001525IEA-angiogenesis-
GO:0001938IDA-positive regulation of endothelial cell proliferation11292659
GO:0001960IEA-negative regulation of cytokine-mediated signaling pathway-
GO:0002576TAS-platelet degranulation-
GO:0002828IEA-regulation of type 2 immune response-
GO:0006357IEA-regulation of transcription from RNA polymerase II promoter-
GO:0006954IEA-inflammatory response-
GO:0007165IEA-signal transduction-
GO:0010466IDA-negative regulation of peptidase activity16512877
GO:0030502IDA-negative regulation of bone mineralization11165938
GO:0031214IEA-biomineral tissue development-
GO:0043123IMP-positive regulation of I-kappaB kinase/NF-kappaB signaling12761501
GO:0045766IDA-positive regulation of angiogenesis11292659
GO:2000404IEA-regulation of T cell migration-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:103060
  • Data Attributes: MGI curated and HomoloGene calculated
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  (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