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Aliases for RNASEH2B Gene

Aliases for RNASEH2B Gene

  • Ribonuclease H2 Subunit B 2 3 5
  • Deleted In Lymphocytic Leukemia 8 2 3 4
  • Aicardi-Goutieres Syndrome 2 Protein 3 4
  • Ribonuclease HI Subunit B 3 4
  • RNase H2 Subunit B 3 4
  • DLEU8 3 4
  • AGS2 3 4
  • Aicardi-Goutieres Syndrome 2 2
  • Ribonuclease H2, Subunit B 2

External Ids for RNASEH2B Gene

Previous HGNC Symbols for RNASEH2B Gene

  • DLEU8
  • AGS2

Previous GeneCards Identifiers for RNASEH2B Gene

  • GC13P050382
  • GC13P051483
  • GC13P032272

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 1, Dominant And Recessive. Among its related pathways are Telomere C-strand (Lagging Strand) Synthesis. GO annotations related to this gene include RNA-DNA hybrid ribonuclease activity.

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

Regulatory Elements for RNASEH2B Gene

Enhancers for RNASEH2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F050908 1.4 FANTOM5 Ensembl ENCODE 67.5 +4.6 4577 12.3 HDGF CREB3L1 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3 RNASEH2B RNASEH2B-AS1 DLEU7-AS1 DLEU7 KCNRG INTS6 GC13M050919
GH13F050890 1.4 FANTOM5 ENCODE 14.7 -16.6 -16644 4.9 SOX13 TBP MAX POLR2A EED CREM SOX5 NFIA MTA2 JUNB RNASEH2B-AS1 RNASEH2B DLEU7 DLEU7-AS1 KCNRG GC13P050857
GH13F050887 0.8 Ensembl 12.2 -22.0 -21978 0.2 RNASEH2B RNASEH2B-AS1 DLEU7-AS1 GC13P050857
GH13F050882 0.4 Ensembl 12.1 -26.6 -26578 0.6 RNASEH2B RNASEH2B-AS1 DLEU7 INTS6 GC13P050857
GH13F050798 1 Ensembl ENCODE 11.4 -109.3 -109330 3.5 CTCF TEAD4 ZNF2 RAD21 RELA TEAD3 EED ZNF143 SMC3 PRDM10 DLEU7 RNASEH2B RNASEH2B-AS1 RPL34P26 DLEU7-AS1 GC13P050723
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RNASEH2B on UCSC Golden Path with GeneCards custom track

Promoters for RNASEH2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000516274 1022 3001 HDGF CREB3L1 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Location for RNASEH2B Gene

Chromosome:
13
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

Genes around RNASEH2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASEH2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASEH2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for RNASEH2B Gene

  • Ubiquitination at Lys 230
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNASEH2B Gene

Domains & Families 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 :
  • Belongs to the RNase H2 subunit B family.
Family:
  • Belongs to the RNase H2 subunit B family.
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

Human Phenotype Ontology for RNASEH2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASEH2B Gene

MGI Knock Outs for RNASEH2B:

Animal Model Products

miRNA for RNASEH2B Gene

miRTarBase miRNAs that target RNASEH2B

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 IEA --
GO:0032299 ribonuclease H2 complex IDA 21177858
genes like me logo Genes that share ontologies with RNASEH2B: view

Pathways & Interactions for RNASEH2B Gene

SuperPathways for RNASEH2B Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
genes like me logo Genes that share pathways with RNASEH2B: view

Pathways by source for RNASEH2B Gene

1 KEGG pathway 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

No data available for SIGNOR curated interactions for RNASEH2B Gene

Transcripts for RNASEH2B Gene

Unigene Clusters for RNASEH2B Gene

Ribonuclease H2, subunit B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for RNASEH2B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.4) and Serum (17.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNASEH2B Gene



Protein tissue co-expression partners for RNASEH2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNASEH2B Gene:

RNASEH2B

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 expression patterns with RNASEH2B: view

Primer Products

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 34 35
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia RNASEH2B 34 35
  • 89.62 (n)
-- 35
  • 74 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC607281 34
  • 89.35 (n)
RNASEH2B 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnaseh2b 34 16 35
  • 84.36 (n)
rat
(Rattus norvegicus)
Mammalia Rnaseh2b 34
  • 84.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNASEH2B 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNASEH2B 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNASEH2B 34 35
  • 65.67 (n)
lizard
(Anolis carolinensis)
Reptilia RNASEH2B 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaseh2b 34
  • 63.56 (n)
Str.3961 34
zebrafish
(Danio rerio)
Actinopterygii rnaseh2b 34 35
  • 59.94 (n)
zgc56602 34
fruit fly
(Drosophila melanogaster)
Insecta CG11164 34 35
  • 43.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008161 34
  • 42.15 (n)
worm
(Caenorhabditis elegans)
Secernentea F21D5.6 35
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1181 35
  • 42 (a)
OneToOne
Species where no ortholog for RNASEH2B was found in the sources mined by GeneCards:
  • 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
rs74555752 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181], Pathogenic 50,945,470(+) GAATG(G/T)CAGTT reference, missense
rs75184679 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181], Pathogenic 50,945,445(+) TGGCA(A/G)CATTA reference, missense
rs75325951 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] 50,929,517(+) GCAGC(G/T)GTTTG reference, missense, utr-variant-5-prime
rs75971463 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] 50,943,369(+) AGAGA(A/C)GACAT reference, missense
rs76158094 Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] 50,930,685(+) CAGGA(A/G)GTCTT reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2676765 CNV deletion 23128226
esv3632073 CNV loss 21293372
nsv561618 CNV loss 21841781
nsv826645 CNV loss 20364138

Variation tolerance for RNASEH2B Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNASEH2B Gene

Human Gene Mutation Database (HGMD)
RNASEH2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASEH2B

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

Disorders for RNASEH2B Gene

MalaCards: The human disease database

(3) MalaCards diseases for RNASEH2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome 2
  • aicardi-goutieres syndrome type 2
aicardi-goutieres syndrome 1, dominant and recessive
  • aicardi-goutieres syndrome 5
cerebral atrophy
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for RNASEH2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNASEH2B
genes like me logo Genes that share disorders with RNASEH2B: view

No data available for Genatlas for RNASEH2B Gene

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 64
  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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 3 4 64
  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 64

Products for RNASEH2B Gene

Sources for RNASEH2B Gene

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