RNASEH2A (ribonuclease H2 subunit A)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10535
Gene name Gene Name - the full gene name approved by the HGNC.
Ribonuclease H2 subunit A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNASEH2A
Synonyms (NCBI Gene) Gene synonyms aliases
AGS4, JUNB, RNASEHI, RNHIA, RNHL
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AGS4
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding IEA
GO:0004523 Function RNA-DNA hybrid ribonuclease activity IBA 21873635
GO:0004523 Function RNA-DNA hybrid ribonuclease activity IDA 21177858
GO:0004540 Function Ribonuclease activity TAS 9789007
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606034 18518 ENSG00000104889
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (18)
Causal
Disease term Disease name dbSNP ID References
Aicardi goutieres syndrome AICARDI-GOUTIERES SYNDROME, Aicardi-Goutières syndrome, AICARDI-GOUTIERES SYNDROME 4 rs78635798, rs75184679, rs74555752, rs121434516, rs121434517, rs267607027, rs121434518, rs121434519, rs121434520, rs72556554, rs78218009, rs74556809, rs78408272, rs78846775, rs121908117
View all (95 more)		 23592335, 17846997, 20131292, 21454563, 25604658, 24357685, 16845400, 24183309, 15870678
Aortic aneurysm Aortic Aneurysm rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953
View all (29 more)
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)		 21454563
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 26503814 ClinVar
Alloimmune thrombocytopenia Neonatal Alloimmune Thrombocytopenia ClinVar
Porencephalic cyst Porencephalic cyst ClinVar
Ptosis Blepharoptosis, Ptosis ClinVar
Show/Hide Text Mining Associations (25)
Associations from Text Mining
Disease Name Relationship Type References
Aicardi Goutieres syndrome Associate 17846997, 19015152, 23592335, 24183309, 25604658, 25769924, 31559893, 33482855, 35551623, 36065636, 38041217
Carcinogenesis Stimulate 29651323
Carcinogenesis Associate 30696738
Carcinoma Hepatocellular Associate 32213663
Carcinoma Renal Cell Associate 29843367
Chilblains Associate 35551623
Colorectal Neoplasms Stimulate 29651323
Death Associate 17846997
Epilepsy Associate 35551623
Intellectual Disability Associate 35551623