Gene Gene information from NCBI Gene database.
Entrez ID 79621
Gene name Ribonuclease H2 subunit B
Gene symbol RNASEH2B
Synonyms (NCBI Gene)
AGS2DLEU8
Chromosome 13
Chromosome location 13q14.3
Summary 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 r
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs74555752 T>G Pathogenic Missense variant, coding sequence variant
rs75184679 G>A Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs75186889 G>- Pathogenic 5 prime UTR variant, splice donor variant, coding sequence variant
rs75325951 T>G Likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs77301371 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT043749 hsa-miR-328-3p CLASH 23622248
MIRT694085 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT694084 hsa-miR-216a-5p HITS-CLIP 23313552
MIRT694083 hsa-miR-216b-5p HITS-CLIP 23313552
MIRT694082 hsa-miR-6808-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 30889214
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610326 25671 ENSG00000136104
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5TBB1
Protein name Ribonuclease H2 subunit B (RNase H2 subunit B) (Aicardi-Goutieres syndrome 2 protein) (AGS2) (Deleted in lymphocytic leukemia 8) (Ribonuclease HI subunit B)
Protein 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. M
PDB 3P56 , 3P87 , 3PUF , 8YJZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17745 Ydr279_N 25 92 Ydr279p protein triple barrel domain Domain
PF09468 RNase_H2-Ydr279 95 229 Ydr279p protein family (RNase H2 complex component) wHTH domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16845400}.
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  DNA replication  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
508
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the nervous system Likely pathogenic; Pathogenic rs75184679 RCV001813931
Aicardi Goutieres syndrome Pathogenic; Likely pathogenic rs2137952274, rs75184679, rs1337018128, rs367915667, rs75186889, rs75325951 RCV003235636
RCV000343151
RCV003490846
RCV001192743
RCV004800537
RCV004689883
Aicardi-Goutieres syndrome 1 Likely pathogenic; Pathogenic rs786205483 RCV003987401
Aicardi-Goutieres syndrome 2 Likely pathogenic; Pathogenic rs80087649, rs74876702, rs2137866137, rs2137982729, rs75326546, rs2137952274, rs2137925083, rs2137866660, rs75184679, rs74555752, rs786205483, rs772788079, rs367915667, rs2541543792, rs767139201
View all (20 more)
RCV002046000
RCV001384074
RCV002007221
RCV001993362
RCV001917925
RCV001946895
RCV001863437
RCV001914163
RCV000001324
RCV000001325
RCV000492016
RCV002635953
RCV002819933
RCV003030068
RCV003495346
RCV003496314
RCV003495657
RCV003496579
RCV003496806
RCV003601692
RCV003602266
RCV003602284
RCV003602244
RCV003599934
RCV003601145
RCV003600381
RCV001857924
RCV000650223
RCV000706699
RCV000685946
RCV000687242
RCV000794275
RCV000805861
RCV000820778
RCV000805649
RCV001090173
RCV003495241
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs41292768 RCV005920772
Cervical cancer Likely benign rs41292768 RCV005920774
Cholangiocarcinoma Likely benign rs41292768 RCV005920779
Gastric cancer Likely benign rs41292768 RCV005920776
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adrenoleukodystrophy Associate 28739201
Aicardi Goutieres syndrome Associate 17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 28739201, 28762473, 31559893, 31678772, 31920009, 33482855, 33981319, 35262626, 35551623
View all (3 more)
Arthritis Associate 33482855
Atrophy Associate 33482855
Baraitser Brett Piesowicz syndrome Associate 33482855, 35551623
Brain Diseases Associate 28762473
Carcinoma Associate 31467233
Cerebellar Diseases Associate 34655526
Cerebral Palsy Associate 28762473
Chilblains Associate 33482855, 35551623