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

Gene ID: 79621, updated on 26-Jul-2015
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; Vega:OTTHUMG00000016937
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]
Orthologs
See RNASEH2B in Epigenomics, MapViewer
Location:
13q14.3
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 deleted in lymphocytic leukemia 1 (non-protein coding) Neighboring gene DLEU1 antisense RNA 1 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, beta 2 (pseudogene) Neighboring gene RNA, 5S ribosomal pseudogene 29 Neighboring gene long intergenic non-protein coding RNA 371 Neighboring gene ribosomal protein L5 pseudogene 31

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Aicardi Goutieres syndrome 2
MedGen: C3489724 OMIM: 610181 GeneReviews: Aicardi-Goutieres Syndrome
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NHGRI GWAS Catalog

Description
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA-DNA hybrid ribonuclease activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
ribonuclease H2 complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    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, OTTHUMP00000018436, ENST00000336617, OTTHUMT00000045006
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005266524.2XP_005266581.1  

    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
  2. XM_005266525.2XP_005266582.1  

    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_011535229.1XP_011533531.1  

    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_011535231.1XP_011533533.1  

    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_011535230.1XP_011533532.1  

    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
  6. XM_011535234.1XP_011533536.1  

    Conserved Domains (1) summary
    cd09270
    Location:17170
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
  7. XM_011535233.1XP_011533535.1  

    Conserved Domains (1) summary
    cl18968
    Location:26165
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids
  8. XM_006719867.2XP_006719930.1  

    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
  9. XM_011535232.1XP_011533534.1  

    Conserved Domains (1) summary
    cd09270
    Location:4248
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    51451357..51512138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)