AutismKB 2.0

Annotation Details for RGNEF


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Basic Information Top
Gene Symbol:RGNEF ( DKFZp686P12164,FLJ21817,KIAA1998,RIP2,p190RHOGEF )
Gene Full Name: -
Band: 5q13.2
Quick LinksEntrez ID:64283; OMIM: 612790; Uniprot ID:RGNEF_HUMAN; ENSEMBL ID: ENSG00000214944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005886IEA-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0003723IEA-RNA binding-
GO:0005085EXP-guanyl-nucleotide exchange factor activity11058585
GO:0005089IEA-Rho guanyl-nucleotide exchange factor activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0030154IEA-cell differentiation-
GO:0035023IEA-regulation of Rho protein signal transduction-
GO:0035556IEA-intracellular signal transduction-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0048013TAS-ephrin receptor signaling pathway-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RGNEFGNA1212212717595347 Affinity Capture-Western
RGNEFGNA1210903017595347 Affinity Capture-Western
RGNEFGNA1311591417595347 Affinity Capture-Western
RGNEFGNA1312212717595347 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1346016
  • Data Attributes: HomoloGene calculated
No data
No data

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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