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

    Gene ID: 10535, updated on 11-Jun-2021

    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
    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; THSD8; 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
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    Genomic context

    See RNASEH2A in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (12806584..12813640)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12917398..12924454)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene peroxiredoxin 2 Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene thrombospondin type 1 domain containing 8 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element Neighboring gene uncharacterized LOC105372281 Neighboring gene retbindin Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    PubMed 
    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
     
    enables ribonuclease activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    PubMed 
    involved_in RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA phosphodiester bond hydrolysis, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within mismatch repair IDA
    Inferred from Direct Assay
    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
    PubMed 
    part_of ribonuclease H2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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

    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.

    Genomic

    1. NG_012662.1 RefSeqGene

      Range
      5001..12035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_278

    mRNA and Protein(s)

    1. NM_006397.3NP_006388.2  ribonuclease H2 subunit A

      See identical proteins and their annotated locations for NP_006388.2

      Status: REVIEWED

      Source sequence(s)
      AK315327, AY363912, BM664190
      Consensus CDS
      CCDS12282.1
      UniProtKB/Swiss-Prot
      O75792
      Related
      ENSP00000221486.4, ENST00000221486.6
      Conserved Domains (1) summary
      cd07181
      Location:31250
      RNase_HII_eukaryota_like; Eukaryotic RNase HII

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      12806584..12813640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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