InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RNASEH2B

Summary

InnateDB Protein

IDBP-34457.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RNASEH2B

Protein Name

ribonuclease H2, subunit B

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000337623

InnateDB Gene

IDBG-34455 (RNASEH2B)

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 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. {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 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004523	RNA-DNA hybrid ribonuclease activity

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