AutismKB 2.0

Annotation Details for RNF43


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Basic Information Top
Gene Symbol:RNF43 ( DKFZp781H02126,DKFZp781H0392,FLJ20315,FLJ77466,FLJ99338,MGC125630,RNF124,URCC )
Gene Full Name: ring finger protein 43
Band: 17q23.2
Quick LinksEntrez ID:54894; OMIM: 612482; Uniprot ID:RNF43_HUMAN; ENSEMBL ID: ENSG00000108375; HGNC ID: 18505
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005635IEA-nuclear envelope-
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane22575959
GO ID Evidence Qualifier GO_term References
GO:0004842IDA-ubiquitin-protein transferase activity22575959
GO:0005109IPI-frizzled binding22895187
GO:0005515IPI-protein binding18313049
GO:0046872IEA-metal ion binding-
GO:0061630TAS-ubiquitin protein ligase activity24431302
GO ID Evidence Qualifier GO_term References
GO:0016055IEA-Wnt signaling pathway-
GO:0016567IDA-protein ubiquitination22575959
GO:0030178IMP-negative regulation of Wnt signaling pathway22575959
GO:0038018IDA-Wnt receptor catabolic process22895187
GO:0038018TAS-Wnt receptor catabolic process24431302
GO:0042787IDA-protein ubiquitination involved in ubiquitin-dependent protein catabolic process22895187
GO:0072089ISS-stem cell proliferation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
RNF43UBC11316418313049 Affinity Capture-Western
RNF43UBC12024118313049 Affinity Capture-Western
RNF43UBE2D112024119690564 Two-hybrid
RNF43UBE2D111316919690564 Two-hybrid
RNF43UBE2D212024119690564 Two-hybrid
RNF43UBE2D211317019690564 Two-hybrid
RNF43UBE2D312024119690564 Two-hybrid
RNF43UBE2D311317119690564 Two-hybrid
RNF43UBE2E112024119690564 Two-hybrid
RNF43UBE2E111317219690564 Two-hybrid
RNF43UBE2N11318219690564 Two-hybrid
RNF43UBE2N12024119690564 Two-hybrid
RNF43UBE2E311574019690564 Two-hybrid
RNF43UBE2E312024119690564 Two-hybrid
RNF43KDM5B12024119336002 Affinity Capture-MS
RNF43KDM5B11598419336002 Affinity Capture-MS
RNF43AKAP8L12024118313049 Affinity Capture-Western; Two-hybrid
RNF43AKAP8L11794018313049 Affinity Capture-Western; Two-hybrid
RNF43UBE2D412024119690564 Two-hybrid
RNF43UBE2D411964119690564 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442609
  • Data Attributes: 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


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