RNASEH2B gene

ribonuclease H2 subunit B

The RNASEH2B gene provides instructions for making one part (subunit) of a group of proteins called the RNase H2 complex. This complex is a ribonuclease, which means it is an enzyme that helps break down molecules containing RNA, a chemical cousin of DNA. In particular, the RNase H2 complex normally helps break down molecules in which one strand of RNA is combined with one strand of DNA (RNA-DNA hybrids) when these molecules are no longer needed. RNA-DNA hybrids are formed during DNA copying (replication) and are found in all cells.

The RNase H2 complex is also thought to be involved in DNA replication, error repair, and other cellular processes, including helping to prevent inappropriate immune system activation.

At least 76 mutations in the RNASEH2B gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), skin lesions, and other health problems associated with abnormal immune system activation. The RNASEH2B gene mutations that cause Aicardi-Goutières syndrome likely result in a dysfunctional RNase H2 complex. Abnormal functioning of this complex may disrupt transcription, DNA replication, DNA repair, cell death (apoptosis), or other processes. Such disruptions are thought to lead to the accumulation of unneeded DNA and RNA in cells. These DNA and RNA fragments may be mistaken for the genetic material of viral invaders, triggering immune system reactions in multiple body systems that cause severe brain dysfunction (encephalopathy), skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome.

Cytogenetic Location: 13q14.3, which is the long (q) arm of chromosome 13 at position 14.3

Molecular Location: base pairs 50,909,678 to 50,970,462 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q14.3, which is the long (q) arm of chromosome 13 at position 14.3
  • AGS2
  • Aicardi-Goutieres syndrome 2 protein
  • deleted in leukemia 8 protein
  • deleted in lymphocytic leukemia 8
  • DLEU8
  • FLJ11712
  • ribonuclease H2 subunit B isoform 1
  • ribonuclease H2 subunit B isoform 2
  • ribonuclease H2, subunit B
  • ribonuclease HI subunit B
  • RNase H2 subunit B
  • RNH2B_HUMAN