RNASEH2A (ribonuclease H2 subunit A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10535
Gene name Ribonuclease H2 subunit A
Gene symbol RNASEH2A
Synonyms (NCBI Gene)
AGS4JUNBRNASEHIRNHIARNHL
Chromosome 19
Chromosome location 19p13.13
Summary The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to re
SNPs SNP information provided by dbSNP.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
SNP ID Visualize variation Clinical significance Consequence
rs75037667 G>A Pathogenic Coding sequence variant, missense variant
rs75718910 G>A Pathogenic Coding sequence variant, missense variant
rs76436818 C>A,G,T Pathogenic Coding sequence variant, missense variant, synonymous variant
rs76857106 G>A Pathogenic Intron variant, coding sequence variant, missense variant
rs77103971 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT050223 hsa-miR-25-3p CLASH 23622248
MIRT046003 hsa-miR-125b-5p CLASH 23622248
MIRT2091592 hsa-miR-3182 CLIP-seq
MIRT2091593 hsa-miR-3977 CLIP-seq
MIRT2091594 hsa-miR-548n CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
GO:0004523 Function RNA-DNA hybrid ribonuclease activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606034 18518 ENSG00000104889
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75792
Protein name Ribonuclease H2 subunit A (RNase H2 subunit A) (EC 3.1.26.4) (Aicardi-Goutieres syndrome 4 protein) (AGS4) (RNase H(35)) (Ribonuclease HI large subunit) (RNase HI large subunit) (Ribonuclease HI subunit A)
Protein function Catalytic subunit of RNase HII, 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. Medi
PDB 3P56 , 3PUF , 8YJZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01351 RNase_HII 31 → 241 Ribonuclease HII Family
Sequence
Sequence length 299
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  DNA replication  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Aicardi Goutieres syndrome Likely pathogenic; Pathogenic rs753679297, rs549586181, rs75718910, rs397515480, rs77103971 RCV005418184
RCV001797792
RCV003155061
RCV001731349
RCV000610608
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Aicardi-Goutieres syndrome 4 Pathogenic; Likely pathogenic rs753695101, rs1388246689, rs2145830181, rs2145830162, rs1403542725, rs1969104362, rs1273822899, rs1289090477, rs76857106, rs762503607, rs2512890193, rs1969053208, rs2512890062, rs867179008, rs2512892954
View all (14 more)		 RCV003613176
RCV001376995
RCV003771738
RCV001993698
RCV001988479
View all (27 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RNASEH2A-related disorder Pathogenic; Likely pathogenic rs1386586416, rs2512479908, rs753679297, rs549586181, rs77103971 RCV004750938
RCV003904037
RCV004751576
RCV004751700
RCV003894911
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RNASEH2A-related type 1 interferonopathy Likely pathogenic; Pathogenic rs549586181 RCV005358035
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (8)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AICARDI-GOUTIERES SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (346)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired porencephaly Acquired Porencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 22869147
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 18436711
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 16166335
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 24366584
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 22869147
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 27600282, 30066853
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 20826579
★★★★★
★☆☆☆☆
Found in Text Mining only
Aicardi Goutieres syndrome Aicardi goutieres syndrome Pubtator 17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 31559893, 33482855, 35551623, 36065636, 38041217 Associate
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome CLINVAR_DG 17846997, 20131292, 21454563, 23592335
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations