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FLASH GENE
Symbol RNASEH2C contributors: mct/pgu - updated : 27-10-2011
HGNC name ribonuclease H2, subunit C
HGNC id 24116
Corresponding disease
AGS3 Aicardi-Goutieres syndrome 3
Location 11q13.1      Physical location : 65.485.145 - 65.488.409
Synonym name
  • AYP1 protein
  • RNase H1 small subunit
  • Synonym symbol(s) AGS3, AYP1, FLJ20974, MGC22934
    DNA
    TYPE functioning gene
    STRUCTURE 3.30 kb     3 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2785 17.7 164 - 2009 19015152
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Lymphoid/Immunespleen   highly
     thymus   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Rnaseh2c (66.5 pc)
    Homologene
    FAMILY
  • RNase H2 subunit C family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • being a non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA : DNA hybrids
  • participating in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication
  • mediating the excision of single ribonucleotides from DNA:RNA duplexes
  • may function to degrade RNA/DNA hybrids during cell death to avoid nucleic acid-mediated immune activation
  • may have a role in enzymatic activity of the RNAseH2 complex
  • ribonuclease H enzymes that specifically recognize RNA/DNA hybrids and hydrolyze the ribonucleotide-containing polynucleotide strand
  • SAMHD1, TREX1, and RNase H2 participate in a cellular nucleic acid metabolic pathway that overlaps the interferon-mediated innate antiviral and inflammatory responses
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • involved in the RNase H2 complex composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RNASEH2A interfaces mostly with the RNase H2C subunit that is intricately interwoven with the RNase H2B subunit
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AGS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    mutation R69W in the RNASEH2C protein exhibits a significant reduction in specific activity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS