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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RNASEH2A Gene

protein-coding   GIFtS: 65
GCID: GC19P012918

Ribonuclease H2, Subunit A

(Previous names: ribonuclease H2, large subunit, Aicardi-Goutieres syndrome...)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and aicardi-goutieres syndrome type 4, and among its related super-pathways are DNA strand elongation. GO annotations related to this gene include ribonuclease H activity and RNA binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RNASEH2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus (Probable)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75792

  • 3 DME Specific Peptides for RNASEH2A (O75792)
     GVDEAGRG  DEAGRGPV  DLEALKVADSKTL 

    RNASEH2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RNASEH2A Protein Expression
    REFSEQ proteins: NP_006388.2  
    ENSEMBL proteins: 
     ENSP00000221486  

    Human Recombinant Protein Products for RNASEH2A: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for RNASEH2A 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    RNASEH2A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    RNASEH2A for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0004523ribonuclease H activity IDA--
    GO:0004540ribonuclease activity TAS9789007
    GO:0046872metal ion binding IEA--
         
    RNASEH2A for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RNASEH2A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RNASEH2A 
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    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RNASEH2A
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    SwitchGear 3'UTR luciferase reporter plasmidRNASEH2A 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RNASEH2A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lagging Strand Synthesis
    DNA replication0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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


    RNASEH2A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RNASEH2A

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

    5/42 Interacting proteins for RNASEH2A (O757923 ENSP000002214864) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication TAS--
    GO:0006401RNA catabolic process IDA--
    GO:0016070RNA metabolic process ----

    RNASEH2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about RNASEH2A / RNH2A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RNASEH2A
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    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 

    24/318 AceView cDNA sequences (see all 318):

    BG232104 BQ671950 CR619517 CR626283 BE796689 BX092561 BM710237 AA310550 
    BU163607 BM664190 CR602067 BG576189 AI306438 BV180502 BM694909 BU180635 
    BF796503 CR602864 BQ681831 CK299480 BG765130 AI768158 CA487261 CA487859 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See RNASEH2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNASEH2A

    SOURCE GeneReport for Unigene cluster: Hs.532851
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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RNASEH2A gene from 9/24 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
    64(a)
    1 ↔ 1
    GL343286.1(1006426-1015158)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.83142 Xenopus laevis transcribed sequence with weak similarity to protein spO75792 (H.sapiens) RNHL_HUMAN Ribonuclease HI large subunit (RNase HI large subunit) (RNase H(35)) (Ribonuclease H2) (RNase H2) less 73.66(n)    CA789646.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa92h072 Danio rerio cDNA clone MGC64066 IMAGE6794284, complete cds less 77.47(n)    BC053234.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG136901 , 3 ribonuclease H13
    CG136901
    49(a)3
    54.63(n)1
    50.69(a)1
      21C43
    332131  NM_134677.31  NP_608521.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rnh-21 , 3 Protein RNH-21 50(a)3
    49.63(n)1
    51.87(a)1
      II(8517075-8518123)3
    2668611  NM_063395.21  NP_495796.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RNH201(YNL072W)4
    RNH2011
    Ribonuclease H2 catalytic subunit, removes RNA primers during Okazaki fragment synthesis and errant ribonucleotides misincorporated during DNA replication; homolog of RNAse HI; related to human AGS4 which causes Aicardi-Goutieres syndrome less4
    Rnh201p1
    51.55(n)1
    43.72(a)1
      14(490317-491240)4
    8556521, 4  NP_014327.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G251001 Ribonuclease H2 subunit A 55.27(n)
    52.14(a)
      817048  NM_128067.4  NP_565584.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g01539001 hypothetical protein 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)
    About This Section
    Paralogs for RNASEH2A gene
    1 SIMAP similar gene for RNASEH2A using alignment to 2 protein entries:     RNH2A_HUMAN (see all proteins):
    JUNB

    RNASEH2A for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/295 SNPs in RNASEH2A are shown (see all 295)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    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
    rs1890455691,2
    --12487080(+) CGGGCA/GCCGGG 1 -- us2k10--------
    rs1924299711,2
    C--12487146(+) TCCTGA/GAGTTC 1 -- us2k10--------
    rs1822372681,2
    C--12852532(+) TGGCGA/GGCGCC 1 -- us2k10--------
    rs48042071,2
    C,F,A,H--12852674(+) accaaA/Ccaaac 1 -- us2k1 tfbs311Minor allele frequency- C:0.06NS EA WA NA CSA 418
    rs1492690861,2
    --12852675(+) CCAACA/CAAACA 1 -- us2k10--------
    rs1422906601,2
    C--12852691(+) ACAAA-/CAAAAA 1 -- us2k10--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for RNASEH2A:    About MalaCards
    aicardi-goutieres syndrome    aicardi-goutieres syndrome type 4    aicardi-goutieres syndrome 1, dominant and recessive    anauxetic dysplasia
    tick-borne encephalitis    cartilage-hair hypoplasia    cerebral atrophy    microcephaly
    mixed connective tissue disease    mouth disease    connective tissue disease    encephalitis
    thrombocytopenia    spasticity    cerebritis    influenza
    hepatitis

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

    RNASEH2A for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RNASEH2A gene, integrated from 9 sources (see all 38):
    (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. (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. (1998)
    3. 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. (2004)
    4. 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. (2009)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    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)
    About This Section
    Entrez Gene: 10535 HGNC: 18518 AceView: RNASEH2A Ensembl:ENSG00000104889 euGenes: HUgn10535
    ECgene: RNASEH2A Kegg: 10535 H-InvDB: RNASEH2A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RNASEH2A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RNASEH2A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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