AutismKB 2.0

Annotation Details for EMR2


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Basic Information Top
Gene Symbol:EMR2 ( CD312,DKFZp781B135 )
Gene Full Name: egf-like module containing, mucin-like, hormone receptor-like 2
Band: 19p13.1
Quick LinksEntrez ID:30817; OMIM: 606100; Uniprot ID:EMR2_HUMAN; ENSEMBL ID: ENSG00000127507; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0031256IDA-leading edge membrane17928360
GO:0032587IEA-ruffle membrane-
GO ID Evidence Qualifier GO_term References
GO:0004930IEA-G-protein coupled receptor activity-
GO:0005509IEA-calcium ion binding-
GO:0035374IMP-chondroitin sulfate binding12829604
GO ID Evidence Qualifier GO_term References
GO:0006954IEA-inflammatory response-
GO:0007155IMP-cell adhesion12829604
GO:0007166IEA-cell surface receptor signaling pathway-
GO:0007186IEA-G-protein coupled receptor signaling pathway-
GO:0016477IMP-cell migration17928360
GO:0043304IMP-regulation of mast cell degranulation26841242
GO:0071621IMP-granulocyte chemotaxis17928360
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

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