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Aliases for RNASEH2A Gene

Aliases for RNASEH2A Gene

  • Ribonuclease H2, Subunit A 2 3
  • RNHIA 3 4 6
  • AGS4 3 4 6
  • Aicardi-Goutieres Syndrome 4 Protein 3 4
  • Ribonuclease H2, Large Subunit 2 3
  • Ribonuclease HI Large Subunit 3 4
  • Ribonuclease HI Subunit A 3 4
  • RNase HI Large Subunit 3 4
  • RNase H2 Subunit A 3 4
  • RNase H(35) 3 4
  • EC 3.1.26.4 4 63
  • RNASEHI 3 4
  • Ribonuclease HI, Large Subunit 3
  • Aicardi-Goutieres Syndrome 4 2
  • Ribonuclease H2 Subunit A 3
  • JUNB 3
  • RNHL 3

External Ids for RNASEH2A Gene

Previous GeneCards Identifiers for RNASEH2A Gene

  • GC19P013048
  • GC19P013140
  • GC19P012762
  • GC19P012778
  • GC19P012918
  • GC19P012489

Summaries for RNASEH2A Gene

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 4 and aicardi-goutieres syndrome. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include RNA binding and RNA-DNA hybrid ribonuclease activity.

UniProtKB/Swiss-Prot for RNASEH2A Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASEH2A Gene

Genomics for RNASEH2A Gene

Regulatory Elements for RNASEH2A Gene

Genomic Location for RNASEH2A Gene

Start:
12,804,303 bp from pter
End:
12,813,648 bp from pter
Size:
9,346 bases
Orientation:
Plus strand

Genomic View for RNASEH2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNASEH2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEH2A Gene

Proteins for RNASEH2A Gene

  • Protein details for RNASEH2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75792-RNH2A_HUMAN
    Recommended name:
    Ribonuclease H2 subunit A
    Protein Accession:
    O75792
    Secondary Accessions:
    • B2RCY1
    • Q96F11

    Protein attributes for RNASEH2A Gene

    Size:
    299 amino acids
    Molecular mass:
    33395 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Manganese or magnesium. Binds 1 divalent metal ion per monomer in the absence of substrate. May bind a second metal ion after substrate binding.;
    Quaternary structure:
    • The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.

    Three dimensional structures from OCA and Proteopedia for RNASEH2A Gene

neXtProt entry for RNASEH2A Gene

Proteomics data for RNASEH2A Gene at MOPED

Selected DME Specific Peptides for RNASEH2A Gene

Post-translational modifications for RNASEH2A Gene

  • Ubiquitination at Lys26, Lys64, Lys165, Lys167, Lys192, Lys198, Lys215, Lys221, and Lys267
  • Modification sites at PhosphoSitePlus

Other Protein References for RNASEH2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for RNASEH2A Gene

Suggested Antigen Peptide Sequences for RNASEH2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75792

UniProtKB/Swiss-Prot:

RNH2A_HUMAN :
  • O75792
Family:
  • Belongs to the RNase HII family. Eukaryotic subfamily.
genes like me logo Genes that share domains with RNASEH2A: view

No data available for Gene Families for RNASEH2A Gene

Function for RNASEH2A Gene

Molecular function for RNASEH2A Gene

UniProtKB/Swiss-Prot CatalyticActivity: Endonucleolytic cleavage to 5-phosphomonoester.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for RNASEH2A Gene

Gene Ontology (GO) - Molecular Function for RNASEH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding IEA --
GO:0004523 RNA-DNA hybrid ribonuclease activity IDA 21177858
GO:0004540 ribonuclease activity TAS 9789007
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNASEH2A: view

miRNA for RNASEH2A Gene

miRTarBase miRNAs that target RNASEH2A

Transcription Factor Targeting for RNASEH2A Gene

Selected GeneGlobe predicted Target genes for RNASEH2A

No data available for Phenotypes , Animal Models and HOMER Transcription for RNASEH2A Gene

Localization for RNASEH2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEH2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNASEH2A Gene COMPARTMENTS Subcellular localization image for RNASEH2A gene
Compartment Confidence
nucleus 4
chloroplast 2
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
extracellular 2
mitochondrion 2
plasma membrane 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RNASEH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0032299 ribonuclease H2 complex IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2A: view

Pathways for RNASEH2A Gene

SuperPathways for RNASEH2A Gene

genes like me logo Genes that share pathways with RNASEH2A: view

Gene Ontology (GO) - Biological Process for RNASEH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS 21177858
GO:0006298 mismatch repair IDA 23603115
GO:0006401 RNA catabolic process IDA 21177858
GO:0016070 RNA metabolic process --
GO:0043137 DNA replication, removal of RNA primer IBA --
genes like me logo Genes that share ontologies with RNASEH2A: view

Compounds for RNASEH2A Gene

(2) HMDB Compounds for RNASEH2A Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4
Manganese
  • manganese
7439-96-5
genes like me logo Genes that share compounds with RNASEH2A: view

Transcripts for RNASEH2A Gene

Unigene Clusters for RNASEH2A Gene

Ribonuclease H2, subunit A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH2A Gene

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

Relevant External Links for RNASEH2A Gene

GeneLoc Exon Structure for
RNASEH2A
ECgene alternative splicing isoforms for
RNASEH2A

Expression for RNASEH2A Gene

mRNA expression in normal human tissues for RNASEH2A Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNASEH2A Gene

SOURCE GeneReport for Unigene cluster for RNASEH2A Gene Hs.532851

genes like me logo Genes that share expressions with RNASEH2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RNASEH2A Gene

Orthologs for RNASEH2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RNASEH2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASEH2A 35
  • 98.77 (n)
  • 98.33 (a)
RNASEH2A 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNASEH2A 35
  • 86.69 (n)
  • 86.24 (a)
RNASEH2A 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNASEH2A 35
  • 86.8 (n)
  • 86.58 (a)
RNASEH2A 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnaseh2a 35
  • 81.94 (n)
  • 86.96 (a)
Rnaseh2a 16
Rnaseh2a 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNASEH2A 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNASEH2A 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnaseh2a 35
  • 82.77 (n)
  • 86.24 (a)
lizard
(Anolis carolinensis)
Reptilia RNASEH2A 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.8314 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76169 35
rnaseh2a 35
  • 63.48 (n)
  • 63.14 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2178 35
zebrafish
(Danio rerio)
Actinopterygii rnaseh2a 35
  • 64.66 (n)
  • 63.21 (a)
rnaseh2a 36
  • 61 (a)
OneToOne
wufa92h07 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007741 35
  • 53.72 (n)
  • 51.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13690 35
  • 54.98 (n)
  • 50 (a)
CG13690 36
  • 41 (a)
OneToOne
CG13690 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea rnh-2 35
  • 49.63 (n)
  • 51.87 (a)
rnh-2 36
  • 48 (a)
OneToOne
rnh-2 37
  • 50 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER363W 35
  • 53.91 (n)
  • 47.66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNH201 35
  • 51.45 (n)
  • 44.81 (a)
RNH201 36
  • 36 (a)
OneToOne
RNH201 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04774g 35
  • 50 (n)
  • 45.54 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G25100 35
  • 55.27 (n)
  • 52.14 (a)
rice
(Oryza sativa)
Liliopsida Os11g0153900 35
  • 54.17 (n)
  • 49.6 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU09608 35
  • 53.5 (n)
  • 49.38 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rnh201 35
  • 48.17 (n)
  • 48.62 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1877 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for RNASEH2A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNASEH2A Gene

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

Paralogs for RNASEH2A Gene

Selected SIMAP similar genes for RNASEH2A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with RNASEH2A: view

No data available for Paralogs for RNASEH2A Gene

Variants for RNASEH2A Gene

Sequence variations from dbSNP and Humsavar for RNASEH2A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs15389 - 12,813,339(+) CTCAG(C/G)ATCNG reference, missense
rs1046220 -- 12,806,658(+) GGTGG(C/T)GGCGG utr-variant-5-prime, intron-variant
rs3786712 -- 12,812,911(-) TCTCC(C/T)GCCTC intron-variant
rs3786713 -- 12,812,834(-) agtga(C/T)gaggt intron-variant
rs4804207 -- 12,804,952(+) accaa(A/C)caaac upstream-variant-2KB, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNASEH2A Gene

Variant ID Type Subtype PubMed ID
dgv3733n71 CNV Loss 21882294
nsv513711 OTHER Inversion 21212237
nsv513712 OTHER Inversion 21212237

Relevant External Links for RNASEH2A Gene

HapMap Linkage Disequilibrium report
RNASEH2A
Human Gene Mutation Database (HGMD)
RNASEH2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASEH2A Gene

Disorders for RNASEH2A Gene

(1) OMIM Diseases for RNASEH2A Gene (606034)

UniProtKB/Swiss-Prot

RNH2A_HUMAN
  • 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. {ECO:0000269 PubMed:16845400, ECO:0000269 PubMed:17846997, ECO:0000269 PubMed:20131292}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RNASEH2A

GeneTests
RNASEH2A
GeneReviews
RNASEH2A
Genetic Association Database (GAD)
RNASEH2A
genes like me logo Genes that share disorders with RNASEH2A: view

Publications for RNASEH2A Gene

  1. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. (PMID: 16845400) Crow Y.J. … Jackson A.P. (Nat. Genet. 2006) 2 3 4 23
  2. Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII. (PMID: 9789007) Frank P. … Buesen W. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4
  3. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-GoutiA"res syndrome. (PMID: 20131292) Ramantani G. … Lee-Kirsch M.A. (Arthritis Rheum. 2010) 4 23
  4. Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex. (PMID: 19015152) Chon H. … Cerritelli S.M. (Nucleic Acids Res. 2009) 3 23
  5. The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. (PMID: 21177858) Figiel M. … Nowotny M. (J. Biol. Chem. 2011) 3 4

Products for RNASEH2A Gene

Sources for RNASEH2A Gene

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