RNASEH2A ribonuclease H2 subunit A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNASEH2Aprovided by HGNC
Official Full Name: ribonuclease H2 subunit Aprovided by HGNC
Primary source: HGNC:HGNC:18518
See related: Ensembl:ENSG00000104889 MIM:606034; AllianceGenome:HGNC:18518
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AGS4; JUNB; RNHL; RNHIA; RNASEHI
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]
Expression: Ubiquitous expression in bone marrow (RPKM 7.3), testis (RPKM 7.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12806584..12813640)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12931085..12938153)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12917398..12924454)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ribonuclease H2 Subunit A Preserves Genomic Integrity and Promotes Prostate Cancer Progression.
Title: Ribonuclease H2 Subunit A Preserves Genomic Integrity and Promotes Prostate Cancer Progression.
RNaseH2A downregulation drives inflammatory gene expression via genomic DNA fragmentation in senescent and cancer cells.
Title: RNaseH2A downregulation drives inflammatory gene expression via genomic DNA fragmentation in senescent and cancer cells.
RNase H2, mutated in Aicardi-Goutieres syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation.
Title: RNase H2, mutated in Aicardi-Goutières syndrome, resolves co-transcriptional R-loops to prevent DNA breaks and inflammation.
Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia.
Title: Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia.
Decrease in RNase HII and Accumulation of lncRNAs/DNA Hybrids: A Causal Implication in Psoriasis?
Title: Decrease in RNase HII and Accumulation of lncRNAs/DNA Hybrids: A Causal Implication in Psoriasis?
Hypoxia-induced RNASEH2A limits activation of cGAS-STING signaling in HCC and predicts poor prognosis.
Title: Hypoxia-induced RNASEH2A limits activation of cGAS-STING signaling in HCC and predicts poor prognosis.
Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
Title: Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
Long noncoding RNA LINC01287 promotes proliferation and inhibits apoptosis of lung adenocarcinoma cells via the miR-3529-5p/RNASEH2A axis under the competitive endogenous RNA pattern.
Title: Long noncoding RNA LINC01287 promotes proliferation and inhibits apoptosis of lung adenocarcinoma cells via the miR-3529-5p/RNASEH2A axis under the competitive endogenous RNA pattern.
ATR inhibition may be beneficial for cancer patients with reduced levels of RNASEH2.
Title: Genome-wide CRISPR screens reveal synthetic lethality of RNASEH2 deficiency and ATR inhibition.
The authors predict that the induction of expression of RNASEH2A via human papillomavirus 16 E7 and E2F1 may promote DNA replication and cancer cell proliferation.
Title: Genome-Wide Profiling of Cervical RNA-Binding Proteins Identifies Human Papillomavirus Regulation of RNASEH2A Expression by Viral E7 and E2F1.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Aicardi-Goutieres syndrome 4 MedGen: C1835912 OMIM: 610333 GeneReviews: Aicardi-Goutieres Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA nuclease activity	TAS Traceable Author Statement more info	PubMed
enables RNA-DNA hybrid ribonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA-DNA hybrid ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA replication	TAS Traceable Author Statement more info	PubMed
involved_in DNA replication, removal of RNA primer	IBA Inferred from Biological aspect of Ancestor more info
involved_in RNA catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	IDA Inferred from Direct Assay more info	PubMed
involved_in mismatch repair	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of ribonuclease H2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ribonuclease H2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonuclease H2 complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: ribonuclease H2 subunit A

Names: RNase H(35); RNase H2 subunit A; RNase HI large subunit; aicardi-Goutieres syndrome 4 protein; ribonuclease H2, large subunit; ribonuclease HI large subunit; ribonuclease HI subunit A

NP_006388.2

EC 3.1.26.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.