Alt. symbols: DLEU8 | AGS2 | FLJ11712

Approved name: ribonuclease H2 subunit B
Alt. names: deleted in lymphocytic leukemia 8, Aicardi-Goutieres syndrome 2, ribonuclease H2, subunit B

Location: 13q14.3: 50909747 - 51024120 (+)
Gene type: protein_coding, 58 transcripts.

Scores: LoFtool: 0.193000 | pLI: 0.00000000 | LOEUF: 1.247

HGNC: 25671

NCBI: 79621, RefSeq: NG_009055.1

Ensembl: ENSG00000136104.22

LRG_279 | Status: public

OMIM: 610326

Expression | ProteinAtlas

Gene Ontology (GO)

• Molecular function:
• Cell component: nucleoplasm [GO:0005654]; ribonuclease H2 complex [GO:0032299]
• Biological process: ribonucleotide metabolic process [GO:0009259]; RNA catabolic process [GO:0006401]

Normal function

The RNASEH2B gene encodes the beta subunit of the human ribonuclease H2 enzyme complex, which cleaves ribonucleotides from RNA:DNA duplexes. In particular, the RNase H2 complex play a role in breaking down molecules in which one strand of RNA is combined with one strand of DNA (RNA-DNA hybrids) when these molecules are no longer needed. RNA-DNA hybrids are formed during replication and are found in all cells. Additionally, the RNase H2 complex is also thought to be involved in DNA replication, error repair, and other cellular processes, including helping to prevent inappropriate immune system activation.

Dysfunction and disease

Biallelic mutations in this gene cause Aicardi-Goutieres syndrome 2 (ASG2) [MIM:610181]. Pathogenic missense mutations include p.Ala177Thr and p.Val185Gly, which have been reported both in homozygosis and compound heterozygosis. [Load More]