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FLASH GENE
Symbol JARID2 contributors: mct/npt/shn/pgu - updated : 27-09-2015
HGNC name jumonji, AT rich interactive domain 2
HGNC id 6196
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a DNA-binding domain (AT-rich interaction domain)
  • a nuclear localization signal
  • regions of similarity with human retinoblastoma-binding protein-2 and the human SMCX protein
  • conjugated Other
    HOMOLOGY
    interspecies ortholog to Jarid2, Mus musculus
    ortholog to JARID2, Pan troglodytes
    ortholog to jarid2a, Danio rerio
    intraspecies homolog to retinoblastoma binding protein 2 and SMCX (XE-169)
    Homologene
    FAMILY Jmj family
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • putatively involved in the development of central nervous system
  • acts in cell nuclei and participates in the negative regulation of cell proliferation signaling
  • may play a critical role in transcription factor cascade to regulate expression of heart-specific genes and normal cardiac development (represses NPPA gene expression by inhibiting transcriptional activities of NKX2.5 and GATA4)
  • might control cardiac myocyte proliferation and cardiac morphogenesis by repressing cyclin D1 expression
  • promotes the polycomb repressive complex 2 recruitment to the target genes while inhibiting its histone methyltransferase activity
  • essential for the binding of Polycomb group proteins to target genes and, for the proper differentiation of embryonic stem cells and normal development
  • critical role in regulating Polycomb group function
  • required for the co-recruitment of PRC1 and RNAP to genes that regulate development in ES cells
  • Jarid2 has a critical role in undifferentiated ES cells either in preserving their multi-lineage potential status or in mediating the successful switching of ES cells from a proliferative to a differentiating state
  • potential regulator of NOTCH1 signaling
  • NOTCH1 is a potential target of JARID2 in the endocardium of the developing ventricle
  • required for balancing maintenance and differentiation of stem cells including embryonic and induced pluripotent stem cells
  • critical role in the ventricular endocardium
  • with MTF2, are important regulatory subunits of PRC2 in embryonic stem (ES) cell
  • required for normal cardiac development
  • silences NOCH1 in the late stages of embryonic cardiac development through recruiting SETDB1 to facilitate enrichment of H3K9me2 and H3K9me3 at that locus
  • CELLULAR PROCESS cell life, proliferation/growth
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text heart and neural tube development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NKX2.5 and GATA4
  • H3-K9 methyltransferases G9a and GLP
  • interacts with the retinoblastoma protein (RB), one of the master regulatory genes of cell cycle(potentiating the repression function of RB on E2F activities, leading to reduced cell cycle progression and regulating cardiomyocyte proliferation)
  • Polycomb-Repressive Complex 2, PRC2 and ARID-domain-containing protein
  • functions as a transcriptional repressor of target genes, including NOTCH1, through a novel process involving the modification of H3K9 methylation via specific interaction with SETDB1 during heart development
  • cell & other
    REGULATION
    Other acetylated protein
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in the endocardium causes initial dysregulation of endocardial genes that eventually leads to defective expression of myocardial genes
    Susceptibility
  • a susceptibility gene for schizophrenia in Shandong peninsula of China
  • to non-syndromic oral cleft
  • Variant & Polymorphism SNP
  • JARID2 rs2237138 shows a protective effect against non-syndromic oral cleft
  • Candidate gene
    Marker
  • may be a diagnostic marker for left ventricular decompensation in aortic stenosis
  • Therapy target
    ANIMAL & CELL MODELS
  • jumonji mutant mice show neural tube and cardiac defects and die in utero around embryonic day 11.5
  • homozygous knockout jumonji mice display abnormal heart development and defective regulation of cardiac-specific genes