Property Summary

NCBI Gene PubMed Count 22
PubMed Score 24.00
PubTator Score 7.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 2.100 0.000
astrocytic glioma -1.600 0.045
osteosarcoma -2.576 0.000
tuberculosis 1.100 0.000
group 3 medulloblastoma 1.400 0.006

Gene RIF (7)

PMID Text
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

MAAGVDCGDGVGARQHVFLVSEYLKDASKKMKNGLMFVKLVNPCSGEGAIYLFNMCLQQLFEVKVFKEKH      1 - 70
HSWFINQSVQSGGLLHFATPVDPLFLLLHYLIKADKEGKFQPLDQVVVDNVFPNCILLLKLPGLEKLLHH     71 - 140
VTEEKGNPEIDNKKYYKYSKEKTLKWLEKKVNQTVAALKTNNVNVSSRVQSTAFFSGDQASTDKEEDYIR    141 - 210
YAHGLISDYIPKELSDDLSKYLKLPEPSASLPNPPSKKIKLSDEPVEAKEDYTKFNTKDLKTEKKNSKMT    211 - 280
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.
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