AutismKB 2.0

Annotation Details for JMY


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Basic Information Top
Gene Symbol:JMY ( FLJ37870,MGC163496,WHDC1L3 )
Gene Full Name: junction mediating and regulatory protein, p53 cofactor
Band: 5q14.1
Quick LinksEntrez ID:133746; OMIM: 604279; Uniprot ID:JMY_HUMAN; ENSEMBL ID: ENSG00000152409; HGNC ID: 28916
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IBA-nucleus-
GO:0005634ISS-nucleus-
GO:0005654TAS-nucleoplasm-
GO:0005737IBA-cytoplasm-
GO:0005856IEA-cytoskeleton-
GO:0031252IDA-cell leading edge19287377
GO ID Evidence Qualifier GO_term References
GO:0003713IBA-transcription coactivator activity-
GO:0003713ISS-transcription coactivator activity-
GO:0003779IEA-actin binding-
GO:0005515IPI-protein binding10518217
GO:0071933IBA-Arp2/3 complex binding-
GO ID Evidence Qualifier GO_term References
GO:0006281IEA-DNA repair-
GO:0006357ISS-regulation of transcription from RNA polymerase II promoter-
GO:0007050IBA-cell cycle arrest-
GO:0007050ISS-cell cycle arrest-
GO:0034314IBA-Arp2/3 complex-mediated actin nucleation-
GO:0034314ISS-Arp2/3 complex-mediated actin nucleation-
GO:0043065IBA-positive regulation of apoptotic process-
GO:0043065ISS-positive regulation of apoptotic process-
GO:0051091IBA-positive regulation of sequence-specific DNA binding transcription factor activity-
GO:0051091ISS-positive regulation of sequence-specific DNA binding transcription factor activity-
GO:0070060IBA-'de novo' actin filament nucleation-
GO:0070060ISS-'de novo' actin filament nucleation-
GO:0070358ISS-actin polymerization-dependent cell motility-
GO:0072332IBA-intrinsic apoptotic signaling pathway by p53 class mediator-
GO:1901796TAS-regulation of signal transduction by p53 class mediator-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
JMYEP30010834710518217 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
JMYEP30012637210518217 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1913096
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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


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