Version 5.4
Homo sapiens Protein: RNASEH2C
Summary
InnateDB Protein IDBP-57715.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RNASEH2C
Protein Name ribonuclease H2, subunit C
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000308193
InnateDB Gene IDBG-57713 (RNASEH2C)
Protein Structure
UniProt Annotation
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. {ECO:0000269PubMed:16845400, ECO:0000269PubMed:21177858}.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations Aicardi-Goutieres syndrome 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. {ECO:0000269PubMed:16845400, ECO:0000269PubMed:17846997, ECO:0000269PubMed:20131292}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Widely expressed. {ECO:0000269PubMed:16845400}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006401 RNA catabolic process
Cellular Component
GO:0005634 nucleus
GO:0032299 ribonuclease H2 complex
Protein Structure and Domains
PDB ID
InterPro IPR013924 Ribonuclease H2, subunit C
PFAM PF08615
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8TDP1
PhosphoSite PhosphoSite-Q8TDP1
TrEMBL E9PKP0
UniProt Splice Variant
Entrez Gene 84153
UniGene Hs.718438
RefSeq NP_115569
HUGO HGNC:24116
OMIM 610330
CCDS CCDS8111
HPRD 16531
IMGT
EMBL AF312034 AF346605 AF346606 AK024627 AP001266 BC023588 CH471076
GenPept AAH23588 AAL87739 AAO49176 AAO49177 BAB14937 EAW74434 EAW74435

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca