RNASEH2B

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]

Full Name

Ribonuclease H2 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.

Biological Process

Biological Process fibroblast proliferationIEA:Ensembl
Biological Process gene expressionIEA:Ensembl
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process mismatch repair1 PublicationIC:ComplexPortal
Biological Process negative regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of fibroblast proliferationIEA:Ensembl
Biological Process regulation of DNA damage checkpointIEA:Ensembl
Biological Process regulation of G2/M transition of mitotic cell cycleIEA:Ensembl
Biological Process ribonucleotide metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process RNA catabolic processManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Nucleus

Involvement in disease

Aicardi-Goutieres syndrome 2 (AGS2):
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.