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

Gene ID: 79621, updated on 4-Jul-2021

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
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Genomic context

See RNASEH2B in Genome Data Viewer
Location:
13q14.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (50909678..50970462)
105.20201022 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
GeneReviews: Not available
Aicardi Goutieres syndrome 2
MedGen: C3489724 OMIM: 610181 GeneReviews: Aicardi-Goutieres Syndrome
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11712

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in RNA catabolic process 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 in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA damage checkpoint IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of G2/M transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in ribonucleotide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 B
Names
Aicardi-Goutieres syndrome 2 protein
RNase H2 subunit B
deleted in lymphocytic leukemia 8
ribonuclease HI subunit B

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_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_024570.4NP_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, ENST00000336617.8
    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 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_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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