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    RNASEH2B ribonuclease H2 subunit B [ Homo sapiens (human) ]

    Gene ID: 79621, updated on 7-Jul-2019

    Summary

    Official Symbol
    RNASEH2Bprovided by HGNC
    Official Full Name
    ribonuclease H2 subunit Bprovided by HGNC
    Primary source
    HGNC:HGNC:25671
    See related
    Ensembl:ENSG00000136104 MIM:610326
    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
    AGS2; DLEU8
    Summary
    RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.7), lymph node (RPKM 6.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See RNASEH2B in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (50909678..50970462)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51483814..51544596)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984567 Neighboring gene deleted in lymphocytic leukemia 7 Neighboring gene DLEU7 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 28 Neighboring gene RNASEH2B antisense RNA 1 Neighboring gene guanylate cyclase 1 soluble subunit beta 2 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 29 Neighboring gene chromosome 13 open reading frame 42 Neighboring gene ribosomal protein L5 pseudogene 31

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Aicardi Goutieres syndrome 2
    MedGen: C3489724 OMIM: 610181 GeneReviews: Aicardi-Goutieres Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • DNA replication, organism-specific biosystem (from KEGG)
      DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
    • DNA replication, conserved biosystem (from KEGG)
      DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11712

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA-DNA hybrid ribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    RNA phosphodiester bond hydrolysis, endonucleolytic IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA damage checkpoint IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    ribonucleotide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    ribonuclease H2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ribonuclease H2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ribonuclease H2 subunit B
    Names
    Aicardi-Goutieres syndrome 2 protein
    RNase H2 subunit B
    deleted in lymphocytic leukemia 8
    ribonuclease HI subunit B

    NCBI Reference Sequences (RefSeq)

    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_009055.1 RefSeqGene

      Range
      4923..65705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_279

    mRNA and Protein(s)

    1. NM_001142279.2NP_001135751.1  ribonuclease H2 subunit B isoform 2

      See identical proteins and their annotated locations for NP_001135751.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL137881, CA309004
      Consensus CDS
      CCDS45047.1
      UniProtKB/Swiss-Prot
      Q5TBB1
      Related
      ENSP00000389877.1, ENST00000422660.6
      Conserved Domains (1) summary
      cd09270
      Location:17187
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
    2. NM_024570.3NP_078846.2  ribonuclease H2 subunit B isoform 1

      See identical proteins and their annotated locations for NP_078846.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      AL137881, BC036744
      Consensus CDS
      CCDS9425.1
      UniProtKB/Swiss-Prot
      Q5TBB1
      UniProtKB/TrEMBL
      Q8N451
      Related
      ENSP00000337623.2, ENST00000336617.7
      Conserved Domains (1) summary
      cd09270
      Location:17302
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

      Range
      50909678..50970462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020747.1XP_016876236.1  ribonuclease H2 subunit B isoform X5

    2. XM_011535229.1XP_011533531.1  ribonuclease H2 subunit B isoform X2

      Related
      ENSP00000496571.1, ENST00000645990.1
      Conserved Domains (1) summary
      cd09270
      Location:17187
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
    3. XM_011535230.2XP_011533532.1  ribonuclease H2 subunit B isoform X3

      Related
      ENSP00000496293.1, ENST00000646092.1
      Conserved Domains (1) summary
      cd09270
      Location:17187
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
    4. XM_011535231.2XP_011533533.1  ribonuclease H2 subunit B isoform X4

      Related
      ENSP00000495302.1, ENST00000644425.1
      Conserved Domains (1) summary
      cd09270
      Location:17187
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
    5. XM_011535233.2XP_011533535.1  ribonuclease H2 subunit B isoform X6

      Conserved Domains (1) summary
      cl18968
      Location:111166
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
    6. XM_006719867.4XP_006719930.1  ribonuclease H2 subunit B isoform X1

      Related
      ENSP00000481236.3, ENST00000611510.5
      Conserved Domains (1) summary
      cd09270
      Location:29296
      RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
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