RNASEH2A
Summary: The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606034 Ensembl IDEnsembl:ENSG00000104889 HGNC IDHGNC:HGNC:18518 PHARMGKB IDPA38565 Map Location19p13.13 | |||||
Gene Categories:
DNA REPAIRGO terms in RNASEH2A
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003723 | RNA binding |
| MF | IBA | GO:0004523 | RNA-DNA hybrid ribonuclease activity |
| MF | IDA | GO:0004523 | RNA-DNA hybrid ribonuclease activity |
| MF | TAS | GO:0004540 | ribonuclease activity |
| MF | IEA | GO:0046872 | metal ion binding |
| CC | IDA | GO:0005654 | nucleoplasm |
Gene expression in normal tissue: RNASEH2A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RNASEH2A
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03030 | DNA replication - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RNASEH2A
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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