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

    Gene ID: 79621, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (50909678..50970460)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (50124630..50185409)
    RS_2024_09 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 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 second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. Ali M, et al. J Med Genet, 2006 May. PMID 15908569, Free PMC Article
    2. 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
    3. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Crow YJ, et al. Dev Med Child Neurol, 2008 Jun. PMID 18422679
    4. Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. Izzotti A, et al. J Child Neurol, 2012 Jan. PMID 21862834
    5. 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

    See all (46) 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
    		Compare labs

    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

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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, A0A1B0GUE7
      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, A0A1B0GUE7
      Related
      ENSP00000495278.1, ENST00000646709.1

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

      UniProtKB/TrEMBL
      A0A087WXR7, A0A1B0GUE7
      Related
      ENST00000645712.1

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

      Related
      ENSP00000519261.1, ENST00000713969.1

    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, A0A1B0GUE7

    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, A0A1B0GUE7

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

      UniProtKB/TrEMBL
      A0A087WXR7, A0A1B0GUE7

    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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