Human Gene RNASEH2C (ENST00000308418.10) from GENCODE V44
Description: Homo sapiens ribonuclease H2 subunit C (RNASEH2C), mRNA. (from RefSeq NM_032193) RefSeq Summary (NM_032193): This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000308418.10 Gencode Gene: ENSG00000172922.11 Transcript (Including UTRs) Position: hg38 chr11:65,717,673-65,720,798 Size: 3,126 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr11:65,719,783-65,720,758 Size: 976 Coding Exon Count: 4
ID:RNH2C_HUMAN DESCRIPTION: RecName: Full=Ribonuclease H2 subunit C; Short=RNase H2 subunit C; AltName: Full=Aicardi-Goutieres syndrome 3 protein; Short=AGS3; AltName: Full=RNase H1 small subunit; AltName: Full=Ribonuclease HI subunit C; 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 RNASEH2C are the cause of Aicardi-Goutieres syndrome type 3 (AGS3) [MIM:610329]. 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. MISCELLANEOUS: The T6 pseudogene located upstream of SRY on chromosome Y is derived from the transcript of this gene. SIMILARITY: Belongs to the RNase H2 subunit C family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2C";
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 Q8TDP1
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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.
US Server
