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79621 RNASEH2B

79621

RNASEH2B

ribonuclease H2 subunit B

protein-coding

Homo sapiens

基因描述

Type Description
Definition ribonuclease H2 subunit B

研究结论

Date Results Publications
2019-12-07 10:06:00 AGS mutations in this cluster impair the interaction of RNase H2 with several members of the CoREST chromatin-silencing complex that include the histone deacetylase HDAC2 and the demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I as well as ZMYM3, an MYM-type zinc finger protein. 30889214
2018-06-16 12:05:00 Results implicate rare variants in the Aicardi-Goutieres syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis, consistent with a genetic basis underlying inflammation-driven malignant transformation in glioma and prostate carcinoma development. 29030706
2017-02-25 10:21:00 This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome. 27643693
2016-03-12 10:18:00 Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B. 25906927
2015-07-25 11:30:00 RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner. 24986920

名称对应

Type IDs
Synonymous AGS2, DLEU8
Gene
UniProtKB-ID: RNH2B_HUMAN, A0A2R8Y883_HUMAN, Q8N451_HUMAN
UniprotKB: Q5TBB1, A0A2R8Y883, Q8N451
UniParc: UPI000013CFE7, UPI0005D01C08, UPI0000D4DA79, UPI0000070E04
EMBL: BC036744, AY764036, BC001397, CH471075, AL160157, BC007332, BC005088, AK021774, AK223340, BC010174, AL137881
Ensembl: ENSG00000136104
KO: hsa:79621
Nucleutide sequences
EMBL-CDS: AAH05088.1, EAX08864.1, AAH01397.1, AAH07332.1, AAX13343.1, AAH10174.1, BAB13892.1, BAD97060.1, AAH36744.1
Ensembl_TRS: ENST00000336617, ENST00000422660, ENST00000645990
Protein sequencees
Ensembl_PRO: ENSP00000337623, ENSP00000389877, ENSP00000496571
RefSeq: XP_011533535.1, XP_006719930.1, XP_011533533.1, XP_011533531.1, XP_016876236.1, NP_001135751.1, XP_011533532.1, NP_078846.2
Others
UniRef100: UniRef100_Q8N451, UniRef100_A0A2R8Y883, UniRef100_Q5TBB1
UniRef90: UniRef90_Q5TBB1, UniRef90_G3QFF7
UniRef50: UniRef50_Q5TBB1
UniGene: Hs.306291
CCDS: CCDS45047.1, CCDS9425.1

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