InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RNASEH2A

Summary

InnateDB Protein

IDBP-31094.5

Last Modified

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

Gene Symbol

RNASEH2A

Protein Name

ribonuclease H2, subunit A

Synonyms

AGS4; JUNB; RNASEHI; RNHIA; RNHL;

Species

Homo sapiens

Ensembl Protein

ENSP00000221486

InnateDB Gene

IDBG-31092 (RNASEH2A)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:16845400, ECO:0000269PubMed:21177858}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Aicardi-Goutieres syndrome 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. {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

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:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0004523	RNA-DNA hybrid ribonuclease activity
GO:0004540	ribonuclease activity
GO:0046872	metal ion binding

Biological Process

GO:0006260	DNA replication
GO:0006298	mismatch repair
GO:0006401	RNA catabolic process
GO:0016070	RNA metabolic process
GO:0090501	RNA phosphodiester bond hydrolysis
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic