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RNASEH2A Gene

protein-coding   GIFtS: 66
GCID: GC19P012918

Ribonuclease H2, Subunit A

(Previous names: ribonuclease H2, large subunit, Aicardi-Goutieres syndrome...)
  See RNASEH2A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ribonuclease H2, Subunit A1 2     RNase H2 Subunit A2 3
AGS42 3 5     RNase HI Large Subunit2 3
RNHIA2 3 5     EC 3.1.26.43 8
Ribonuclease H2, Large Subunit1 2     Aicardi-Goutieres Syndrome 41
Aicardi-Goutieres Syndrome 4 Protein2 3     JUNB2
Ribonuclease HI Large Subunit2 3     RNHL2
Ribonuclease HI Subunit A2 3     Ribonuclease H2 Subunit A2
RNASEHI2 3     Ribonuclease HI, Large Subunit2
RNase H(35)2 3     

External Ids:    HGNC: 185181   Entrez Gene: 105352   Ensembl: ENSG000001048897   OMIM: 6060345   UniProtKB: O757923   

Export aliases for RNASEH2A gene to outside databases

Previous GC identifers: GC19P013048 GC19P013140 GC19P012762 GC19P012778 GC19P012489


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RNASEH2A Gene:
The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2).
RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves
ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and
to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome
(AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor
retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the
cerebrospinal fluid.(provided by RefSeq, Aug 2009)

GeneCards Summary for RNASEH2A Gene:
RNASEH2A (ribonuclease H2, subunit A) is a protein-coding gene. Diseases associated with RNASEH2A include aicardi-goutieres syndrome type 4, and aicardi-goutieres syndrome. GO annotations related to this gene include RNA binding and RNA-DNA hybrid ribonuclease activity.

UniProtKB/Swiss-Prot: RNH2A_HUMAN, O75792
Function: Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids.
Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers
during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes

Gene Wiki entry for RNASEH2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RNASEH2A gene promoter:
         STAT1   SRF (504 AA)   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNASEH2A promoter sequence
   Search Chromatin IP Primers for RNASEH2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RNASEH2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.13

RNASEH2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNASEH2A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P012918:  view genomic region     (about GC identifiers)

Start:
12,917,394 bp from pter      End:
12,924,462 bp from pter
Size:
7,069 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RNH2A_HUMAN, O75792 (See protein sequence)
Recommended Name: Ribonuclease H2 subunit A  
Size: 299 amino acids; 33395 Da
Cofactor: Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a
second metal ion after substrate binding (By similarity)
Subunit: The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic
subunits RNASEH2B and RNASEH2C
2 PDB 3D structures from and Proteopedia for RNASEH2A:
3P56 (3D)        3PUF (3D)    
Secondary accessions: B2RCY1 Q96F11

Explore the universe of human proteins at neXtProt for RNASEH2A: NX_O75792

Explore proteomics data for RNASEH2A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys26, Lys64, Lys165, Lys167, Lys192, Lys198, Lys215, Lys221, Lys267
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for RNASEH2A (O75792)
     GVDEAGRG  DEAGRGPV  DLEALKVADSKTL 


    See RNASEH2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006388.2  
    ENSEMBL proteins: 
     ENSP00000221486  

    RNASEH2A Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR004649 RNase_H2_suA
     IPR024567 RNase_HII/HIII_dom
     IPR001352 RNase_HII/HIII
     IPR023160 RNase_HII_hlx-loop-hlx_cap_dom
     IPR012337 RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry O75792

    ProtoNet protein and cluster: O75792

    1 Blocks protein domain: IPB001352 Ribonuclease HII/HIII

    UniProtKB/Swiss-Prot: RNH2A_HUMAN, O75792
    Similarity: Belongs to the RNase HII family. Eukaryotic subfamily


    Find genes that share domains with RNASEH2A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RNH2A_HUMAN, O75792
    Function: Catalytic subunit of RNase HII, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids.
    Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers
    during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes
    Catalytic activity: Endonucleolytic cleavage to 5'-phosphomonoester

         Enzyme Number (IUBMB): EC 3.1.26.41 2

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0004523RNA-DNA hybrid ribonuclease activity IDA--
    GO:0004540ribonuclease activity TAS9789007
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with RNASEH2A           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RNASEH2A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNASEH2A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RNASEH2A

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for RNASEH2A (see all 120):
    ABCA9,  ABHD6,  ACTR2,  ADAM19,  AIG1,  ANKRD10,  ASPH,  B3GALT1,  C1orf35,  C2orf68

    miRNA
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    hsa-mir-125b-5p (MIRT046003), hsa-mir-25-3p (MIRT050223)

    Block miRNA regulation of human, mouse, rat RNASEH2A using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate RNASEH2A
    SwitchGear 3'UTR luciferase reporter plasmidRNASEH2A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RNASEH2A

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    GenScript: all cDNA clones in your preferred vector: RNASEH2A (NM_006397)
    Sino Biological Human cDNA Clone for RNASEH2A
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNASEH2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNASEH2A

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNASEH2A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RNH2A_HUMAN, O75792: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    chloroplast2
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    extracellular2
    mitochondrion2
    plasma membrane2
    lysosome1
    vacuole1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0032299ribonuclease H2 complex IDA--

    Find genes that share ontologies with RNASEH2A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RNASEH2A About    
    See pathways by source

    SuperPathContained pathways About
    1DNA strand elongation
    DNA replication0.63


    Find genes that share SuperPaths with RNASEH2A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RNASEH2A (see all 7)
        iNOS Signaling
    SMAD Signaling Network
    Ceramide Pathway
    ILK Signaling
    ITK and TCR Signaling



    1 Kegg Pathway  (Kegg details for RNASEH2A):
        DNA replication

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RNASEH2A
    Interactions:

        Search GeneGlobe Interaction Network for RNASEH2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RNASEH2A (O757923 ENSP000002214864) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FEN1P397483, ENSP000003054804I2D: score=1 STRING: ENSP00000305480
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    MSH3P205853, ENSP000002650814I2D: score=1 STRING: ENSP00000265081
    RAD51Q066093, ENSP000002678684I2D: score=1 STRING: ENSP00000267868
    POLEQ078643, ENSP000003225704I2D: score=1 STRING: ENSP00000322570
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication TAS--
    GO:0006298mismatch repair IDA--
    GO:0006401RNA catabolic process IDA--
    GO:0016070RNA metabolic process ----
    GO:0090501RNA phosphodiester bond hydrolysis TAS9789007

    Find genes that share ontologies with RNASEH2A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RNASEH2A (RNH2A)

    2 HMDB Compounds for RNASEH2A    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RNASEH2A gene: 
    NM_006397.2  

    Unigene Cluster for RNASEH2A:

    Ribonuclease H2, subunit A
    Hs.532851  [show with all ESTs]
    Unigene Representative Sequence: BU553967
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221486(uc002mvg.1) ENST00000593017 ENST00000590121 ENST00000590279

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RNASEH2A
      QuantiFast Probe-based Assays in human, mouse, rat RNASEH2A

    Additional mRNA sequence: 

    AK315327.1 AY363912.1 BC011748.2 CR456841.1 Z97029.1 

    8 DOTS entries:

    DT.415464  DT.121463886  DT.92443656  DT.95338114  DT.95338117  DT.95338110  DT.95338115  DT.95338118 

    Selected AceView cDNA sequences (see all 318):

    CR605262 BQ946170 NM_006397 CR618002 CR602067 AA989165 AW409803 BM694909 
    BQ057605 BU196259 BF796503 BX402310 AI306438 BU663090 BG765130 BQ671950 
    BM710237 BQ058881 CA488494 AI199555 AI277110 BQ675979 BG766185 BV180502 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH2A    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8
    SP1:                          -                       -                                 
    SP2:                          -                       -                                 
    SP3:                                                  -                                 
    SP4:                          -                                                         
    SP5:                                                                                    


    ECgene alternative splicing isoforms for RNASEH2A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RNASEH2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGGGCGGG
    RNASEH2A Expression
    About this image

    RNASEH2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RNASEH2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532851
        Custom PCR Arrays for RNASEH2A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNASEH2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RNASEH2A gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rnaseh2a1 , 5 ribonuclease H2, large subunit1, 5 81.94(n)1
    86.96(a)1
      8 (41.38 cM)5
    697241  NM_027187.31  NP_081463.11 
     849566105 
    lizard
    (Anolis carolinensis)
    Reptilia RNASEH2A6
    ribonuclease H2, subunit A
    64(a)
    1 ↔ 1
    GL343286.1(1006426-1015158)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83142 Xenopus laevis transcribed sequence with weak similarity more 73.66(n)    CA789646.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa92h072 Danio rerio cDNA clone MGC64066 IMAGE6794284, complete more 77.47(n)    BC053234.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG136901 , 3 ribonuclease H13
    CG136901
    49(a)3
    54.98(n)1
    50(a)1
      21C43
    332131  NM_134677.41  NP_608521.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rnh-21 , 3 rnh-21 50(a)3
    49.63(n)1
    51.87(a)1
      II(8517075-8518123)3
    2668611  NM_063395.31  NP_495796.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RNH201(YNL072W)4
    RNH2011
    Ribonuclease H2 catalytic subunit, removes RNA primers more4
    RNH2011
    51.45(n)1
    44.81(a)1
      14(490317-491240)4
    8556521, 4  NP_014327.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G251001 AT2G25100 55.27(n)
    52.14(a)
      817048  NM_128067.4  NP_565584.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01539001 Os11g0153900 54.17(n)
    49.6(a)
      4349811  NM_001072315.1  NP_001065783.1 


    ENSEMBL Gene Tree for RNASEH2A (if available)
    TreeFam Gene Tree for RNASEH2A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RNASEH2A gene
    1 SIMAP similar gene for RNASEH2A using alignment to 2 protein entries:     RNH2A_HUMAN (see all proteins):
    JUNB

    Find genes that share paralogs with RNASEH2A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RNASEH2A (see all 304)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0706294
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706292 R Q mis40--------
    VAR_0706284
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706282 F L mis40--------
    VAR_0706264
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706262 R W mis40--------
    VAR_0706304
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706302 T M mis40--------
    VAR_0706254
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706252 R W mis40--------
    VAR_0706324
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0706322 R H mis40--------
    VAR_0273774
    Aicardi-Goutieres syndrome 4 (AGS4)4--see VAR_0273772 G S mis40--------
    rs768571061,2
    Cpathogenic112854504(+) AGGCGA/GGCAGG 2 S G mis10--------
    rs764368181,2
    Cpathogenic112855050(+) TTGGGC/G/TGGTGA 2 R W mis10--------
    rs750376671,2
    Cpathogenic112861160(+) GGAACG/ACGGCC 2 /H /R mis11Minor allele frequency- A:0.00NA 4552

    HapMap Linkage Disequilibrium report for RNASEH2A (12917394 - 12924462 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RNASEH2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3733n71CNV Loss21882294
    nsv513712OTHER Inversion21212237
    nsv513711OTHER Inversion21212237

    Human Gene Mutation Database (HGMD): RNASEH2A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RNASEH2A
    DNA2.0 Custom Variant and Variant Library Synthesis for RNASEH2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606034   
    OMIM disorders: 610333  
    UniProtKB/Swiss-Prot: RNH2A_HUMAN, O75792
  • Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333]: A form of Aicardi-Goutieres syndrome, a genetically
    heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications,
    chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic
    investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and
    elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe
    neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and
    profound psychomotor retardation. Death often occurs in early childhood. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for RNASEH2A:    
    About MalaCards
    aicardi-goutieres syndrome type 4    aicardi-goutieres syndrome    cartilage-hair hypoplasia    aicardi-goutieres syndrome 7

    4 diseases from the University of Copenhagen DISEASES database for RNASEH2A:
    Cancer     Mixed connective tissue disease     cartilage-hair hypoplasia     Aicardi-Goutieres syndrome

    Find genes that share disorders with RNASEH2A           About GenesLikeMe

    GeneTests: RNASEH2A
    GeneReviews: RNASEH2A
    Genetic Association Database (GAD): RNASEH2A

    Export disorders for RNASEH2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RNASEH2A gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with RNASEH2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. (PubMed id 16845400)1, 2, 3, 9 Crow Y.J....Jackson A.P. (Nat. Genet. 2006)
    2. Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII. (PubMed id 9789007)1, 2, 3 Frank P....Buesen W. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    3. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (PubMed id 17846997)1, 2 Rice G....Crow Y.J. (Am. J. Hum. Genet. 2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex. (PubMed id 19015152)1, 9 Chon H....Cerritelli S.M. (Nucleic Acids Res. 2009)
    6. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-GoutiA"res syndrome. (PubMed id 20131292)2, 9 Ramantani G....Lee-Kirsch M.A. (Arthritis Rheum. 2010)
    7. Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-GoutiA"res syndrome. (PubMed id 23592335)1 Rice G.I....Crow Y.J. (Hum. Mutat. 2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PubMed id 22223895)2 Bienvenut W.V....Giglione C. (amp 2012)
    10. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10535 HGNC: 18518 AceView: RNASEH2A Ensembl:ENSG00000104889 euGenes: HUgn10535
    ECgene: RNASEH2A Kegg: 10535 H-InvDB: RNASEH2A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RNASEH2A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RNASEH2A[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RNASEH2A gene:
    Search GeneIP for patents involving RNASEH2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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