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FLASH GENE
Symbol KDM4C contributors: mct - updated : 02-06-2010
HGNC name lysine (K)-specific demethylase 4C
HGNC id 17071
Location 9p24.1      Physical location : 6.720.862 - 7.175.647
Synonym name
  • gene amplified in squamous cell carcinoma 1
  • JmjC domain-containing histone demethylation protein 3C
  • gene amplified in squamous cell carcinoma 1 protein
  • jumonji domain containing 2C
  • jumonji domain-containing protein 2C
  • lysine-specific demethylase 4C
  • Synonym symbol(s) KIAA0780, GASC1, FLJ25949, bA146B14.1, JMJD2C, RP11-169L18.1, JHDM3C
    EC.number 1.14.11.-
    DNA
    TYPE functioning gene
    STRUCTURE 418.00 kb     22 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure four NANOG-binding sites, one TCF/ LEF-binding site, and one bHLH-binding site located within evolutionary conserved region at the 3'-flanking region
    MAPPING cloned Y linked N status provisional
    Map pter - D9S1681 - D9S1852 - KDM4C - D9S1849 - D9S2156 - cen
    RNA
    TRANSCRIPTS type messenger
    text MIR repetitive element in its 3-prime UTR
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 splicing 4687 - 1056 - -
    transcript variant 1
    21 splicing 4616 - 1047 - -
    transcript variant 2
    18 splicing 3422 - 835 - -
    transcript variant 4
    18 splicing 3850 - 813 - -
    transcript variant 3
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text undifferentiated stem cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a JmjC domain
  • a JmjN domain
  • conserved dual PHD and Tudor domains in addition to their JmjC domains
  • a catalytic Jumonji C 2 domain
  • HOMOLOGY
    interspecies ortholog to Kdm4c, Mus musculus
    ortholog to Kdm4c, Rattus norvegicus
    ortholog to KDM4C, Pan troglodytes
    Homologene
    FAMILY
  • Jumonji domain 2 (JMJD2) family
  • KDM4 histone demethylase subfamily
  • CATEGORY enzyme , transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • leads to tumor formation
  • demethylate histone lysine and arginine residues in an oxidative reaction that requires Fe(II) and alpha-ketoglutarate as cofactors
  • and promotes both transcriptional activation of androgen receptor target genes and proliferation of prostate cancer cells
  • playing an important role in the development and/or progression of various type of cancers
  • acting as a histone trimethyl demethylase
  • histone demethylase implicated in the epigenetic reprogramming during the early embryogenesis
  • acts as a positive regulator for NANOG, which encodes for a key transcription factor for self-renewal in embryonic stem cells
  • generates different methylated states at the same lysine residue provides a mechanism for fine-tuning histone methylation
  • histone demethylase with a Jumonji C domain that catalyzes lysine (K) demethylation of histones, specifically histone H3 at lysine 9 (H3K9) and lysine 36 (H3K36)
  • involved in maintaining gene expression programs that are important for self-renewal and differentiation in embryonic stem (ES) cells
  • atalytic Jumonji C 2 domain catalyzes lysine (K) demethylation of histones
  • KDM4A, KDM4B, KDM4C, catalyze demethylation of tri- and di-methylated forms of both histone H3 lysine 9 (H3K9me3/me2) and lysine 36 (H3K36me3/me2)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • androgen receptor (AR)
  • NOTCH1 is a novel target gene of GASC1
  • target of OCT4, as well as a key regulator of NANOG, (alteration of GASC1 could enhance and/or disrupt the autoregulatory circuit of the stem cell transcription factors in human cancer cells)
  • Mdm2 oncogene is upregulated by Jmjd2c through the changes of histone H3 methylation on the promoter
  • cell & other
    REGULATION
    Other positively regulated by the embryonic stem cell transcription factor POU5F1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in development or progression of esophageal squamous cell carcinoma
    tumoral   amplification    
    in esophageal cancer cell lines
    tumoral   amplification    
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene for anti-cancer therapy
    Marker
    Therapy target targeted inhibition of GASC1 histone demethylase in cancer could provide potential new avenues for therapeutic development
    ANIMAL & CELL MODELS