ID:RNH2A_HUMAN DESCRIPTION: RecName: Full=Ribonuclease H2 subunit A; Short=RNase H2 subunit A; EC=3.1.26.4; AltName: Full=Aicardi-Goutieres syndrome 4 protein; Short=AGS4; AltName: Full=RNase H(35); AltName: Full=Ribonuclease HI large subunit; Short=RNase HI large subunit; AltName: Full=Ribonuclease HI subunit A; FUNCTION: Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging- strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. CATALYTIC ACTIVITY: Endonucleolytic cleavage to 5'- phosphomonoester. COFACTOR: Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a second metal ion after substrate binding (By similarity). SUBUNIT: The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C. SUBCELLULAR LOCATION: Nucleus (Probable). DISEASE: Defects in RNASEH2A are the cause of Aicardi-Goutieres syndrome type 4 (AGS4) [MIM:610333]. A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. SIMILARITY: Belongs to the RNase HII family. Eukaryotic subfamily. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2A";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75792
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006260 DNA replication GO:0006298 mismatch repair GO:0006401 RNA catabolic process GO:0016070 RNA metabolic process GO:0043137 DNA replication, removal of RNA primer GO:0090305 nucleic acid phosphodiester bond hydrolysis GO:0090501 RNA phosphodiester bond hydrolysis GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
