Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79621
Gene name Gene Name - the full gene name approved by the HGNC.
Ribonuclease H2 subunit B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNASEH2B
Synonyms (NCBI Gene) Gene synonyms aliases
AGS2, DLEU8
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q14.3
Summary Summary of gene provided in NCBI Entrez 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 r
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610326 25671 ENSG00000136104
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Aicardi Goutieres Syndrome aicardi-goutieres syndrome 2, aicardi-goutieres syndrome 1 rs1555257383, rs75184679, rs372632599, rs75186889, rs1452451283, rs74555752, rs75325951, rs786205483, rs79310911, rs777313709, rs1593470515, rs77301371, rs367915667, rs1951857498 N/A
aicardi goutieres syndrome Aicardi Goutieres syndrome rs75184679, rs75186889, rs75325951, rs367915667 N/A
autism spectrum disorder Autism spectrum disorder rs75184679 N/A
Cerebral palsy cerebral palsy rs75184679 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental Delay global developmental delay N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Prostate cancer prostate cancer, Prostate cancer N/A N/A GenCC, GWAS
Associations from Text Mining Disease 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