RNASET2 (ribonuclease T2)

Gene

• Entrez ID: 8635
• Gene name: Ribonuclease T2
• Gene symbol: RNASET2
• Synonyms (NCBI Gene): RNASE6PL, bA514O12.3
• Chromosome: 6
• Chromosome location: 6q27
• Summary: 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 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

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
MIRT1308798	hsa-miR-4768-5p	CLIP-seq

Gene ontology (GO)

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
GO:0004540	Function	RNA nuclease activity	IDA	22735700
GO:0004540	Function	RNA nuclease activity	TAS	9192857
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	9192857
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	16620762
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005764	Component	Lysosome	IDA	16620762
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	16620762
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0006401	Process	RNA catabolic process	IBA
GO:0006401	Process	RNA catabolic process	IDA	22735700
GO:0006401	Process	RNA catabolic process	IEA
GO:0006401	Process	RNA catabolic process	TAS	9192857
GO:0016787	Function	Hydrolase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0033897	Function	Ribonuclease T2 activity	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0043202	Component	Lysosomal lumen	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 612944
• HGNC: 21686
• e!Ensembl: ENSG00000026297

Protein

• 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:

  MRPAALRGALLGCLCLALLCLGGADKRLRDNHEWKKLIMVQHWPETVCEKIQNDCRDPPD
  YWTIHGLWPDKSEGCNRSWPFNLEEIKDLLPEMRAYWPDVIHSFPNRSRFWKHEWEKHGT
  CAAQVDALNSQKKYFGRSLELYRELDLNSVLLKLGIKPSINYYQVADFKDALARVYGVIP
  KIQCLPPSQDEEVQTIGQIELCLTKQDQQLQNCTEPGEQPSPKQEVWLANGAAESRGLRV
  CEDGPVFYPPPKKTKH

• Sequence length: 256

Pathways

Reactome:

Neutrophil degranulation

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cystic leukoencephalopathy without megalencephaly	Likely pathogenic; Pathogenic	rs2128646702, rs121918137, rs2128645761, rs2128645753, rs1583242286, rs2483216603, rs1434250650	RCV001420593 RCV000000440 RCV000000442 RCV000000443 RCV000000444 RCV003322730 RCV001254880	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MISMATCH REPAIR CANCER SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASET2-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	27091087, 27843092, 31349848		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27898717, 39953635	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	23258633	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29581387		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	27199374		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	36466822, 40141059	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30813308		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35718636, 36728187, 37679715, 38431116	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	29763721		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24842157, 30813308		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15309713	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28400196		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28400196, 36466822	Associate	★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	27091087		★☆☆☆☆ Found in Text Mining only
Cystic leukoencephalopathy without megalencephaly	Cystic Leukoencephalopathy Without Megalencephaly	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29310926		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	19525954		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	22735700	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29752287		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30813308		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	CTD_human_DG	21841780		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	BEFREE	25928629, 28568286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	25928629, 28568286	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	21994792	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	28568286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	28568286	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoxia	Hypoxia	Pubtator	15026807	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34299186	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	25928629	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29752287		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28400196		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33626918	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37679715	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	27091087, 31349848		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	19525954, 21199949, 27843092, 29752287, 31349848		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	ORPHANET_DG	19525954		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	GENOMICS_ENGLAND_DG	19525954, 24357685, 25655951		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	UNIPROT_DG	19525954, 21199949		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	BEFREE	27091087		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy, Cystic, Without Megalencephaly	Leukoencephalopathy, Cystic, Without Megalencephaly	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	28922436	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	28604730		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	BEFREE	31349848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	28604730		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24842157		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18543608, 20189811, 24842157, 27840914, 30218741		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18543608		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11314033, 15809705, 18543608, 21646684, 23630276, 24842157, 29763721		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	11314033, 23630276, 24842157		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15809705		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19382914	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	28922436		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	31349848	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39953635	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	25928629		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	25928629, 39741066	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	20526339, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	20526339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	BEFREE	24457966		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	24457966	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	24457966		★☆☆☆☆ Found in Text Mining only