RNASET2 (ribonuclease T2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8635
Gene name Gene Name - the full gene name approved by the HGNC.
Ribonuclease T2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNASET2
Synonyms (NCBI Gene) Gene synonyms aliases
RNASE6PL, bA514O12.3
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q27
Summary Summary of gene provided in NCBI Entrez Gene.
This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs121918137 A>G Pathogenic Missense variant, 3 prime UTR variant, coding sequence variant
rs537395639 ->ATA Conflicting-interpretations-of-pathogenicity Splice donor variant, intron variant
rs763295910 ->C Likely-pathogenic Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1191342507 C>T Pathogenic Coding sequence variant, synonymous variant, 3 prime UTR variant
rs1583242286 AAGCAACGCCAGGCA>- Pathogenic Inframe deletion, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT029082 hsa-miR-26b-5p Microarray 19088304
MIRT1308794 hsa-miR-1257 CLIP-seq
MIRT1308795 hsa-miR-3140-3p CLIP-seq
MIRT1308796 hsa-miR-3611 CLIP-seq
MIRT1308797 hsa-miR-4753-3p 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(30)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0003723 Function RNA binding IEA
GO:0004518 Function Nuclease activity IEA
GO:0004519 Function Endonuclease activity IEA
GO:0004521 Function RNA endonuclease activity IBA
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
612944 21686 ENSG00000026297
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00584
Protein name Ribonuclease T2 (EC 4.6.1.19) (Ribonuclease 6)
Protein function Ribonuclease that plays an essential role in innate immune response by recognizing and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8 (PubMed:31778653). Cleaves preferentially single-stranded RNA molecules between p
PDB 3T0O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00445 Ribonuclease_T2 34 → 213 Ribonuclease T2 family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Higher expression levels observed in the temporal lobe and fetal brain. {ECO:0000269|PubMed:19525954}.
Sequence
Sequence length 256
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
  Reactome
    Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cystic Leukoencephalopathy Without Megalencephaly cystic leukoencephalopathy without megalencephaly rs121918137, rs2128645761, rs2128645753, rs1583242286, rs1434250650 N/A
Show/Hide Unknown Diseases (9)
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
Carcinoma Basal cell carcinoma N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Huntington Disease Huntington's disease progression N/A N/A GWAS
Hyperthyroidism Hyperthyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 27898717, 39953635
Asthenozoospermia Associate 23258633
Autoimmune Diseases Associate 36466822, 40141059
Carcinoma Neuroendocrine Associate 36728187
Carcinoma Renal Cell Associate 35718636, 36728187, 37679715, 38431116
Chemical and Drug Induced Liver Injury Associate 28568286
Colorectal Neoplasms Associate 15309713
Crohn Disease Associate 28400196, 36466822
Epilepsy Associate 22735700
Graves Disease Associate 25928629, 28568286