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    Rnaseh2a ribonuclease H2, large subunit [ Mus musculus (house mouse) ]

    Gene ID: 69724, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Rnaseh2aprovided by MGI
    Official Full Name
    ribonuclease H2, large subunitprovided by MGI
    Primary source
    MGI:MGI:1916974
    See related
    Ensembl:ENSMUSG00000052926 AllianceGenome:MGI:1916974
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    RNHL; RNHIA; RNASEHI; 2400006P09Rik
    Summary
    Predicted to enable RNA-DNA hybrid ribonuclease activity. Acts upstream of or within mismatch repair. Part of ribonuclease H2 complex. Is expressed in several structures, including embryo ectoderm; gut; hemolymphoid system gland; skin; and testis. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome. Orthologous to human RNASEH2A (ribonuclease H2 subunit A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 196.9), liver E14 (RPKM 12.9) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 C3; 8 41.38 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (85683239..85694498, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (84956610..84969598, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38426 Neighboring gene microtubule associated serine/threonine kinase 1 Neighboring gene retbindin Neighboring gene STARR-positive B cell enhancer ABC_E6668 Neighboring gene STARR-positive B cell enhancer ABC_E2269 Neighboring gene STARR-seq mESC enhancer starr_22143 Neighboring gene peroxiredoxin 2 Neighboring gene STARR-positive B cell enhancer ABC_E1764 Neighboring gene jun B proto-oncogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. RNaseH2A downregulation drives inflammatory gene expression via genomic DNA fragmentation in senescent and cancer cells. Sugawara S, et al. Commun Biol, 2022 Dec 28. PMID 36577784, Free PMC Article
    2. Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. Coffin SR, et al. J Biol Chem, 2011 May 13. PMID 21454563, Free PMC Article
    3. Aicardi-Goutières syndrome: clues from the RNase H2 knock-out mouse. Rabe B. J Mol Med (Berl), 2013 Nov. PMID 23744109
    4. RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice. Pokatayev V, et al. J Exp Med, 2016 Mar 7. PMID 26880576, Free PMC Article
    5. The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction. Shaban NM, et al. J Biol Chem, 2010 Feb 5. PMID 19923215, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. An RNase H2 mutant lacking ribonucleotide excision repair activity but supporting R-loop removal revealed that ribonucleotides in DNA initiate p53-dependent DNA damage response and early embryonic arrest in mouse.
      Title: Two RNase H2 Mutants with Differential rNMP Processing Activity Reveal a Threshold of Ribonucleotide Tolerance for Embryonic Development.
    3. the G37S mutation of RNaseH2 led to increased expression of interferon-stimulated genes dependent on the cGAS-STING signaling pathway.
      Title: RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.
    4. Recent evidence gathered from ribonuclease H2 knock-out mice provides insight into the molecular mechanisms underlying Aicardi-Goutieres syndrome development and a potential role of DNA damage as a trigger of autoimmunity is discussed. [review]
      Title: Aicardi-Goutières syndrome: clues from the RNase H2 knock-out mouse.
    5. analysis of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome
      Title: Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
    6. Data show that the interwoven architecture of RNase H2B and RNase H2C that interface with RNase H2A in a complex ideally suited for nucleic acid binding and hydrolysis coupled to protein-protein interaction motifs.
      Title: The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (4)  1 citation
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA-DNA hybrid ribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA-DNA hybrid ribonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA replication, removal of RNA primer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in RNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in RNA metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within mismatch repair ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in mismatch repair NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    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 
    part_of ribonuclease H2 complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease H2 subunit A
    Names
    RNase H2 subunit A
    RNase HI large subunit
    ribonuclease HI large subunit
    ribonuclease HI subunit A
    NP_001351299.1
    NP_081463.1
    XP_011246799.1

    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.

    mRNA and Protein(s)

    1. NM_001364370.2 → NP_001351299.1  ribonuclease H2 subunit A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC163703
      Consensus CDS
      CCDS90429.1
      UniProtKB/TrEMBL
      F6RP29, Q05C51
      Related
      ENSMUSP00000066769.9, ENSMUST00000065049.15
      Conserved Domains (1) summary
      cd07181
      Location:31 → 251
      RNase_HII_eukaryota_like; Eukaryotic RNase HII

    2. NM_027187.5 → NP_081463.1  ribonuclease H2 subunit A isoform 1

      See identical proteins and their annotated locations for NP_081463.1

      Status: VALIDATED

      Source sequence(s)
      AC163703
      Consensus CDS
      CCDS22486.1
      UniProtKB/Swiss-Prot
      Q8CHY8, Q9CWY8
      UniProtKB/TrEMBL
      F6RP29
      Related
      ENSMUSP00000105360.4, ENSMUST00000109738.10
      Conserved Domains (1) summary
      cd07181
      Location:31 → 251
      RNase_HII_eukaryota_like; Eukaryotic RNase HII

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      85683239..85694498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248497.4 → XP_011246799.1  ribonuclease H2 subunit A isoform X1

      See identical proteins and their annotated locations for XP_011246799.1

      UniProtKB/Swiss-Prot
      Q8CHY8, Q9CWY8
      UniProtKB/TrEMBL
      F6RP29
      Related
      ENSMUSP00000120374.2, ENSMUST00000147812.8
      Conserved Domains (1) summary
      cd07181
      Location:31 → 251
      RNase_HII_eukaryota_like; Eukaryotic RNase HII
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9CWY8.2 GenPept UniProtKB/Swiss-Prot:Q9CWY8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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