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

RNASEH2A Gene

protein-coding   GIFtS: 63
GCID: GC19P012918

ribonuclease H2, subunit A

(Previous names: ribonuclease H2, large subunit, Aicardi-Goutieres syndrome...)
 Explore 16 diseases affiliated with
RNASEH2A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RNASEH2A    

Aliases
for RNASEH2A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ribonuclease H2, Subunit A1 2     RNase H(35)2 3
AGS41 2 3 5     RNase H2 Subunit A2 3
RNHIA1 2 3 5     RNase HI Large Subunit2 3
RNASEHI1 2 3     EC 3.1.26.43 8
RNHL1 2     Aicardi-Goutieres Syndrome 41
Ribonuclease H2, Large Subunit1 2     JUNB2
Aicardi-Goutieres Syndrome 4 Protein2 3     Ribonuclease H2 Subunit A2
Ribonuclease HI Large Subunit2 3     Ribonuclease HI, Large Subunit2
Ribonuclease HI Subunit A2 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


Summaries
for RNASEH2A gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
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 plasmid: RNASEH2A 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

Proteins
for RNASEH2A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75792

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

    RNASEH2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006388.2  
    ENSEMBL proteins: 
     ENSP00000221486  

    Human Recombinant Protein Products: 
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    Novus Biologicals RNASEH2A Proteins
    Novus Biologicals RNASEH2A Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    RNASEH2A Antibody Products: 
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    Uscn Antibodies for RNASEH2A
    ThermoFisher Antibodies for RNASEH2A

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    Uscn ELISAs and CLIAs for RNASEH2A

    Protein Domains /
    Families
    for RNASEH2A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RNASEH2A for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB001352 Ribonuclease HII/HIII

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


    Function
    for RNASEH2A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: Endonucleolytic cleavage to 5'-phosphomonoester

    Enzyme Number (IUBMB): EC 3.1.26.41 2

    miRNA
    Products:            		miRTarBase miRNAs that target RNASEH2A:
    hsa-mir-199a-5p (MIRT004391), hsa-mir-663 (MIRT005353), hsa-mir-199b-3p (MIRT004392)

    OriGene 3'-UTR Clone: RNASEH2A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RNASEH2A
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    SwitchGear 3'UTR luciferase reporter plasmid: RNASEH2A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RNASEH2A (see all 7)
    OriGene shRNA RFP: RNASEH2A
    OriGene siRNA: RNASEH2A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RNASEH2A

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for RNASEH2A

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RNASEH2A (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: RNASEH2A (NM_006397)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNASEH2A 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for RNASEH2A
    Search LifeMap BioReagents cell lines for RNASEH2A

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNASEH2A

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004523ribonuclease H activity IDA--
    GO:0004540ribonuclease activity TAS9789007
    GO:0046872metal ion binding IEA--


    RNASEH2A for ontologies           About GeneDecksing



    Pathways & Interactions
    for RNASEH2A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lagging Strand Synthesis
    		DNA replication0.56

    Pathway sources
    See GeneCards unified pathways
    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)

    5/41 Interacting proteins for RNASEH2A (O757923 ENSP000002214864) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    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): 2 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--


    RNASEH2A for ontologies           About GeneDecksing



    Drugs & Compounds
    for RNASEH2A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 

    Transcripts
    for RNASEH2A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


    miRNA
    Products:             		 OriGene 3'-UTR Clone: RNASEH2A
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RNASEH2A
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate RNASEH2A
    SwitchGear 3'UTR luciferase reporter plasmid: RNASEH2A 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RNASEH2A (see all 7)
    OriGene shRNA RFP: RNASEH2A
    OriGene siRNA: RNASEH2A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RNASEH2A
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RNASEH2A (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: RNASEH2A (NM_006397)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RNASEH2A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RNASEH2A 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RNASEH2A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RNASEH2A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RNASEH2A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RNASEH2A

    Additional cDNA 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):

    BG765130 BU539734 BQ681831 BX092561 BX402310 BQ671950 BV180502 AI306438 
    BU196259 BG766185 AI199555 BQ675979 CR618002 CR602067 AI336830 BQ638071 
    BE729203 AA502317 CR619517 AA310550 CR625632 BU663090 BM787587 AI075429 

    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

    Expression
    for RNASEH2A gene

    (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
    CGAP TAG: CTTGGGCGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RNASEH2A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.532851
        SABiosciences Custom PCR Arrays for RNASEH2A
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNASEH2A

    Orthologs
    for RNASEH2A gene

    (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 9/36 species (see all 36)    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
    		 --
    		 63(a)
    		 1 ↔ 1
    		 GL343286.1(1006641-1014198)
    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
    54.63(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 more4
    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
    for RNASEH2A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for RNASEH2A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/202 NCBI SNPs in RNASEH2A are shown (see all 202)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs768571061,2
    		Cpathogenic12917596(+) AGGCGA/GGCAGG 2 S G mis10--------
    rs764368181,2
    		Cpathogenic12918142(+) TTGGGC/G/TGGTGA 3 R G W mis10--------
    rs750376671,2
    		Cpathogenic12924252(+) GGAACG/ACGGCC 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs1822372681,2
    		--12915624(+) TGGCGA/GGCGCC 1 -- us2k10--------
    rs48042071,2
    		C,F,A,H,--12915766(+) ACCAAA/CCAAAC 1 -- us2k1 tfbs311Minor allele frequency- C:0.06NS EA WA NA CSA 418
    rs1492690861,2
    		--12915767(+) CCAACA/CAAACA 1 -- us2k10--------
    rs1422906601,2
    		C,--12915783(+) ACAAA-/CAAAAA 1 -- us2k10--------
    rs1866552121,2
    		--12915819(+) CACATG/TCCTGT 1 -- us2k10--------
    rs735034431,2
    		C,F,--12915896(+) AGCCGA/GGATCG 1 -- us2k13Minor allele frequency- G:0.24WA CSA 122
    rs1434713911,2
    		--12915991(+) GGGAGA/GCGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RNASEH2A (12917394 - 12924462 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RNASEH2A
         1 CNV: 4400
    Human Gene Mutation Database (HGMD): RNASEH2A

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    Disorders / Diseases
    for RNASEH2A gene

    (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.)
    About This Section
    RNASEH2A for disorders           About GeneDecksing

    OMIM gene information: 606034   
    OMIM disorders: 610333  
    UniProtKB/Swiss-Prot: RNH2A_HUMAN, O75792
  • Defects in RNASEH2A are the cause of Aicardi-Goutieres syndrome type 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

    16 diseases for RNASEH2A:    About MalaCards
    aicardi-goutieres syndrome    aicardi-goutieres syndrome type 4    cartilage-hair hypoplasia    tick-borne encephalitis
    microcephaly    mixed connective tissue disease    connective tissue disease    anauxetic dysplasia
    mouth disease    cerebral atrophy    encephalitis    spasticity
    cerebritis    influenza    hepatitis    malaria

    1 disease from the University of Copenhagen DISEASES database for RNASEH2A:
    Aicardi-Goutieres syndrome
    GeneTests: RNASEH2A
    Aicardi-Goutieres Syndrome


    Export disorders for RNASEH2A gene to outside databases

    Publications
    for RNASEH2A gene

    (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 36):
    (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)

    External Searches for RNASEH2A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing RNASEH2A gene

    (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

    Other Databases showing RNASEH2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RNASEH2A gene

    (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

    Intellectual Property
    for RNASEH2A gene

    (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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