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Aliases for RNASEH2B Gene

Aliases for RNASEH2B Gene

  • Ribonuclease H2, Subunit B 2 3
  • Deleted In Lymphocytic Leukemia 8 2 3 4
  • DLEU8 3 4 6
  • AGS2 3 4 6
  • Aicardi-Goutieres Syndrome 2 Protein 3 4
  • Ribonuclease HI Subunit B 3 4
  • RNase H2 Subunit B 3 4
  • Aicardi-Goutieres Syndrome 2 2
  • Ribonuclease H2 Subunit B 3
  • FLJ11712 6

External Ids for RNASEH2B Gene

Previous Symbols for RNASEH2B Gene

  • DLEU8
  • AGS2

Summaries for RNASEH2B Gene

Entrez Gene Summary for RNASEH2B Gene

  • RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]

GeneCards Summary for RNASEH2B Gene

RNASEH2B (Ribonuclease H2, Subunit B) is a Protein Coding gene. Diseases associated with RNASEH2B include aicardi-goutieres syndrome 2 and aicardi-goutieres syndrome. Among its related pathways are DNA strand elongation.

UniProtKB/Swiss-Prot for RNASEH2B Gene

  • Non catalytic subunit of RNase H2, 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASEH2B Gene

Genomics for RNASEH2B Gene

Genomic Location for RNASEH2B Gene

Start:
50,909,678 bp from pter
End:
50,973,745 bp from pter
Size:
64,068 bases
Orientation:
Plus strand

Genomic View for RNASEH2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNASEH2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASEH2B Gene

Regulatory Elements for RNASEH2B Gene

Proteins for RNASEH2B Gene

  • Protein details for RNASEH2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TBB1-RNH2B_HUMAN
    Recommended name:
    Ribonuclease H2 subunit B
    Protein Accession:
    Q5TBB1
    Secondary Accessions:
    • G3XAJ1
    • Q05DR2
    • Q6PK48
    • Q9HAF7

    Protein attributes for RNASEH2B Gene

    Size:
    312 amino acids
    Molecular mass:
    35139 Da
    Quaternary structure:
    • The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.
    SequenceCaution:
    • Sequence=AAH01397.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH07332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH10174.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RNASEH2B Gene

    Alternative splice isoforms for RNASEH2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNASEH2B Gene

Proteomics data for RNASEH2B Gene at MOPED

Post-translational modifications for RNASEH2B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys230

Other Protein References for RNASEH2B Gene

No data available for DME Specific Peptides for RNASEH2B Gene

Domains for RNASEH2B Gene

Protein Domains for RNASEH2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNASEH2B Gene

Graphical View of Domain Structure for InterPro Entry

Q5TBB1

UniProtKB/Swiss-Prot:

RNH2B_HUMAN
Family:
  • Belongs to the RNase H2 subunit B family.:
    • Q5TBB1
genes like me logo Genes that share domains with RNASEH2B: view

No data available for Gene Families for RNASEH2B Gene

Function for RNASEH2B Gene

Molecular function for RNASEH2B Gene

UniProtKB/Swiss-Prot Function: Non catalytic subunit of RNase H2, 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 Ontology (GO) - Molecular Function for RNASEH2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004523 RNA-DNA hybrid ribonuclease activity IEA --
genes like me logo Genes that share ontologies with RNASEH2B: view
genes like me logo Genes that share phenotypes with RNASEH2B: view

miRNA for RNASEH2B Gene

miRTarBase miRNAs that target RNASEH2B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for RNASEH2B Gene

Localization for RNASEH2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASEH2B Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNASEH2B Gene COMPARTMENTS Subcellular localization image for RNASEH2B gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for RNASEH2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0032299 ribonuclease H2 complex IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2B: view

Pathways for RNASEH2B Gene

SuperPathways for RNASEH2B Gene

Superpath Contained pathways
1 DNA strand elongation
genes like me logo Genes that share pathways with RNASEH2B: view

Pathways by source for RNASEH2B Gene

1 KEGG pathway for RNASEH2B Gene

Interacting Proteins for RNASEH2B Gene

Gene Ontology (GO) - Biological Process for RNASEH2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006401 RNA catabolic process IDA 21177858
GO:0009259 ribonucleotide metabolic process IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle IEA --
GO:0010629 negative regulation of gene expression IEA --
genes like me logo Genes that share ontologies with RNASEH2B: view

Transcripts for RNASEH2B Gene

Unigene Clusters for RNASEH2B Gene

Ribonuclease H2, subunit B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RNASEH2B Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: - - - - -
SP2:
SP3: -
SP4: - -
SP5: -
SP6:

Relevant External Links for RNASEH2B Gene

GeneLoc Exon Structure for
RNASEH2B
ECgene alternative splicing isoforms for
RNASEH2B

Expression for RNASEH2B Gene

mRNA expression in normal human tissues for RNASEH2B Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNASEH2B Gene

SOURCE GeneReport for Unigene cluster for RNASEH2B Gene Hs.306291

mRNA Expression by UniProt/SwissProt for RNASEH2B Gene

Q5TBB1-RNH2B_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with RNASEH2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RNASEH2B Gene

Orthologs for RNASEH2B Gene

This gene was present in the common ancestor of animals.

Orthologs for RNASEH2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASEH2B 35
  • 99.68 (n)
  • 99.68 (a)
RNASEH2B 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 74 (a)
OneToMany
RNASEH2B 35
  • 89.62 (n)
  • 84.26 (a)
RNASEH2B 36
  • 83 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC607281 35
  • 89.35 (n)
  • 86.11 (a)
RNASEH2B 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnaseh2b 35
  • 84.36 (n)
  • 82.08 (a)
Rnaseh2b 16
Rnaseh2b 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNASEH2B 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNASEH2B 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnaseh2b 35
  • 84.26 (n)
  • 81.76 (a)
chicken
(Gallus gallus)
Aves RNASEH2B 35
  • 65.67 (n)
  • 59.4 (a)
RNASEH2B 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNASEH2B 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaseh2b 35
  • 63.56 (n)
  • 58.62 (a)
Str.3961 35
zebrafish
(Danio rerio)
Actinopterygii rnaseh2b 35
  • 59.94 (n)
  • 54.93 (a)
rnaseh2b 36
  • 47 (a)
OneToOne
zgc56602 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008161 35
  • 42.15 (n)
  • 32.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11164 35
  • 43.91 (n)
  • 34.69 (a)
CG11164 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F21D5.6 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1181 36
  • 42 (a)
OneToOne
Species with no ortholog for RNASEH2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNASEH2B Gene

ENSEMBL:
Gene Tree for RNASEH2B (if available)
TreeFam:
Gene Tree for RNASEH2B (if available)

Paralogs for RNASEH2B Gene

No data available for Paralogs for RNASEH2B Gene

Variants for RNASEH2B Gene

Sequence variations from dbSNP and Humsavar for RNASEH2B Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs2441 -- 50,940,695(-) TAACC(A/G)GGAGG intron-variant
rs730076 -- 50,950,890(-) TGATC(C/T)CTGAT intron-variant
rs731292 -- 50,969,224(+) ggcac(C/T)gaatt intron-variant
rs731294 -- 50,969,426(-) GTAGT(A/C)GCACC intron-variant
rs768015 -- 50,969,004(-) TTTTG(A/C)TTGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNASEH2B Gene

Variant ID Type Subtype PubMed ID
nsv900077 CNV Loss 21882294
nsv826645 CNV Loss 20364138
esv2676765 CNV Deletion 23128226

Relevant External Links for RNASEH2B Gene

HapMap Linkage Disequilibrium report
RNASEH2B
Human Gene Mutation Database (HGMD)
RNASEH2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASEH2B Gene

Disorders for RNASEH2B Gene

(1) OMIM Diseases for RNASEH2B Gene (610326)

UniProtKB/Swiss-Prot

RNH2B_HUMAN
  • Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181]: 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.

(1) University of Copenhagen DISEASES for RNASEH2B Gene

Relevant External Links for RNASEH2B

GeneTests
RNASEH2B
GeneReviews
RNASEH2B
genes like me logo Genes that share disorders with RNASEH2B: view

Publications for RNASEH2B 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
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for RNASEH2B Gene

Sources for RNASEH2B Gene

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