Human Gene RNASEH2B (ENST00000336617.8) from GENCODE V44
Description: Homo sapiens ribonuclease H2 subunit B (RNASEH2B), transcript variant 1, mRNA. (from RefSeq NM_024570) RefSeq Summary (NM_024570): RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]. Gencode Transcript: ENST00000336617.8 Gencode Gene: ENSG00000136104.21 Transcript (Including UTRs) Position: hg38 chr13:50,909,791-50,956,762 Size: 46,972 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr13:50,910,077-50,956,474 Size: 46,398 Coding Exon Count: 11
ID:RNH2B_HUMAN DESCRIPTION: RecName: Full=Ribonuclease H2 subunit B; Short=RNase H2 subunit B; AltName: Full=Aicardi-Goutieres syndrome 2 protein; Short=AGS2; AltName: Full=Deleted in lymphocytic leukemia 8; AltName: Full=Ribonuclease HI subunit B; FUNCTION: Non catalytic subunit of RNase H2, 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. 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). TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in RNASEH2B are a cause of Aicardi-Goutieres syndrome type 2 (AGS2) [MIM:610181]. 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 H2 subunit B family. SEQUENCE CAUTION: Sequence=AAH01397.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH07332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH10174.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2B";
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 Q5TBB1
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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:0001701 in utero embryonic development GO:0006401 RNA catabolic process GO:0009259 ribonucleotide metabolic process GO:0010389 regulation of G2/M transition of mitotic cell cycle GO:0010629 negative regulation of gene expression GO:0048146 positive regulation of fibroblast proliferation GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic GO:2000001 regulation of DNA damage checkpoint
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