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

Gene ID: 79621, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:25671
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

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See RNASEH2B in Genome Data Viewer
Location:
13q14.3
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50909678..50970460)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50124630..50185409)
105.20220307 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 LOC107984568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7766 Neighboring gene deleted in lymphocytic leukemia 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7768 Neighboring gene DLEU7 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:51416758-51417684 Neighboring gene RNASEH2B antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:51467712-51468251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7771 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:51575479-51575649 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51684668-51685867 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51686552-51687751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5364 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:51722404-51723295 Neighboring gene ribosomal protein L5 pseudogene 31

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. Ostergaard E, et al. Acta Paediatr, 2012 Nov. PMID 22882256
  2. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Crow YJ, et al. Dev Med Child Neurol, 2008 Jun. PMID 18422679
  3. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. Ali M, et al. J Med Genet, 2006 May. PMID 15908569, Free PMC Article
  4. Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia. Ghosh D, et al. J Mol Biol, 2022 Jun 30. PMID 35500843
  5. Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis. Beyer U, et al. Acta Neuropathol, 2017 Dec. PMID 29030706

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia.
    Title: Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia.
  2. RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B loss in prostate cancer.
    Title: RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B loss in prostate cancer.
  3. Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
    Title: Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
  4. AGS mutations in this cluster impair the interaction of RNase H2 with several members of the CoREST chromatin-silencing complex that include the histone deacetylase HDAC2 and the demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I as well as ZMYM3, an MYM-type zinc finger protein.
    Title: Aicardi-Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex.
  5. Results implicate rare variants in the Aicardi-Goutieres syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis, consistent with a genetic basis underlying inflammation-driven malignant transformation in glioma and prostate carcinoma development.
    Title: Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
  6. This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome.
    Title: Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
  7. Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B.
    Title: Genetics and molecular biology of brain calcification.
  8. RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner.
    Title: Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
  9. A genome-wide search for homozygosity in Aicardi-Goutieres syndrome patients in the Faroe Islands revealed one single 15.6 Mb region of homozygosity on chromosome 13, which included RNASEH2B, where a splice site mutation c.322-3C>G was identified.
    Title: A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
  10. This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome.
    Title: Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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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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
  
involved_in RNA catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fibroblast proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in mismatch repair NAS
Non-traceable Author Statement
more info
 PubMed 
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 IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
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
  
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 

General protein information

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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_001142279.2 → NP_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/TrEMBL
    A0A2R8YCP1
    Related
    ENSP00000389877.1, ENST00000422660.6
    Conserved Domains (1) summary
    cd09270
    Location:17 → 187
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

  2. NM_001411023.1 → NP_001397952.1  ribonuclease H2 subunit B isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL137881
    Consensus CDS
    CCDS91806.1
    UniProtKB/TrEMBL
    A0A2R8Y883
    Related
    ENSP00000496571.1, ENST00000645990.1

  3. NM_024570.4 → NP_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
    G3XAJ1, Q05DR2, Q5TBB1, Q6PK48, Q9HAF7
    UniProtKB/TrEMBL
    A0A2R8YGP2
    Related
    ENSP00000337623.2, ENST00000336617.8
    Conserved Domains (1) summary
    cd09270
    Location:17 → 302
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    50909678..50970460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430613.1 → XP_047286569.1  ribonuclease H2 subunit B isoform X2

    Related
    ENSP00000493655.1, ENST00000643682.1

  2. XM_047430617.1 → XP_047286573.1  ribonuclease H2 subunit B isoform X6

  3. XM_011535230.3 → XP_011533532.1  ribonuclease H2 subunit B isoform X4

    UniProtKB/TrEMBL
    A0A2R8YCP1
    Related
    ENSP00000496293.1, ENST00000646092.1
    Conserved Domains (1) summary
    cd09270
    Location:17 → 187
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

  4. XM_011535231.3 → XP_011533533.1  ribonuclease H2 subunit B isoform X5

    UniProtKB/TrEMBL
    A0A2R8YE60
    Related
    ENSP00000495302.1, ENST00000644425.1
    Conserved Domains (1) summary
    cd09270
    Location:17 → 187
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

  5. XM_047430615.1 → XP_047286571.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7
    Related
    ENSP00000481236.3, ENST00000611510.5

  6. XM_006719867.5 → XP_006719930.1  ribonuclease H2 subunit B isoform X1

    UniProtKB/TrEMBL
    A0A2R8Y6Q6
    Conserved Domains (1) summary
    cd09270
    Location:29 → 296
    RNase_H2-B; Ribonuclease H2-B is a subunit of the eukaryotic RNase H complex which cleaves RNA-DNA hybrids

  7. XM_047430614.1 → XP_047286570.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7
    Related
    ENSP00000495278.1, ENST00000646709.1

  8. XM_047430616.1 → XP_047286572.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7
    Related
    ENST00000645712.1

  9. XM_047430618.1 → XP_047286574.1  ribonuclease H2 subunit B isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    50124630..50185409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374969.1 → XP_054230944.1  ribonuclease H2 subunit B isoform X2

  2. XM_054374975.1 → XP_054230950.1  ribonuclease H2 subunit B isoform X6

  3. XM_054374973.1 → XP_054230948.1  ribonuclease H2 subunit B isoform X4

  4. XM_054374974.1 → XP_054230949.1  ribonuclease H2 subunit B isoform X5

  5. XM_054374971.1 → XP_054230946.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7

  6. XM_054374968.1 → XP_054230943.1  ribonuclease H2 subunit B isoform X1

  7. XM_054374970.1 → XP_054230945.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7

  8. XM_054374972.1 → XP_054230947.1  ribonuclease H2 subunit B isoform X3

    UniProtKB/TrEMBL
    A0A087WXR7

  9. XM_054374976.1 → XP_054230951.1  ribonuclease H2 subunit B isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5TBB1.1 GenPept UniProtKB/Swiss-Prot:Q5TBB1

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