Property Summary

NCBI Gene PubMed Count 22
PubMed Score 24.00
PubTator Score 7.96

Knowledge Summary


No data available



  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 2.100 4.9e-08
astrocytic glioma -1.600 4.5e-02
osteosarcoma -2.576 3.9e-09
tuberculosis 1.100 3.5e-05
group 3 medulloblastoma 1.400 5.9e-03

Gene RIF (7)

25906927 Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B.
24986920 RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner.
22882256 A genome-wide search for homozygosity in Aicardi-Goutieres syndrome patients in the Faroe Islands revealed one single 15.6 Mb region of homozygosity on chromosome 13, which included RNASEH2B, where a splice site mutation c.322-3C>G was identified.
21862834 This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome.
19120481 patients with genetic deficiency develop the spontaneous inflammatory myocarditis
19015152 Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the B subunit of RNase H2.
18422679 Congenital infection is seen with preserved neurological function, most frequently due to RNASEH2B mutations.

AA Sequence

AAQKALAKVDKSGMKSIDTFFGVKNKKKIGKV                                          281 - 312

Text Mined References (26)

PMID Year Title
25906927 2015 Genetics and molecular biology of brain calcification.
24986920 2014 Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
24532677 2015 A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22882256 2012 A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21862834 2012 Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
21269460 2011 Initial characterization of the human central proteome.
21177858 2011 The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19120481 2009 Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies.
19015152 2009 Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
18422679 2008 Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
17213182 2006 Identification of genes related to Parkinson's disease using expressed sequence tags.
16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15908569 2006 A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057823 2004 The DNA sequence and analysis of human chromosome 13.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.