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    RNASET2 ribonuclease T2 [ Homo sapiens (human) ]

    Gene ID: 8635, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RNASET2provided by HGNC
    Official Full Name
    ribonuclease T2provided by HGNC
    Primary source
    HGNC:HGNC:21686
    See related
    Ensembl:ENSG00000026297 MIM:612944; AllianceGenome:HGNC:21686
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNASE6PL; bA514O12.3
    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]
    Expression
    Broad expression in spleen (RPKM 93.0), colon (RPKM 39.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNASET2 in Genome Data Viewer
    Location:
    6q27
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (166922113..166956550, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (168304858..168339306, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (167335601..167370038, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167315271-167315770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167316941-167317622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167317623-167318303 Neighboring gene RPS6KA2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:167354383-167354883 Neighboring gene protein GVQW1-like Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167363029-167363714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25441 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:167364403-167365088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17784 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25443 Neighboring gene CRISPRi-validated cis-regulatory element chr6.5886 Neighboring gene uncharacterized LOC105378120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25444 Neighboring gene microRNA 3939

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Regulation of mitochondrion-associated cytosolic ribosomes by mammalian mitochondrial ribonuclease T2 (RNASET2). Huang J, et al. J Biol Chem, 2018 Dec 21. PMID 30385512, Free PMC Article
    2. Human recombinant truncated RNASET2, devoid of RNase activity; A potential cancer therapeutic agent. Nesiel-Nuttman L, et al. Oncotarget, 2014 Nov 30. PMID 25426551, Free PMC Article
    3. New Strategies for Expression and Purification of Recombinant Human RNASET2 Protein in Pichia pastoris. Lualdi M, et al. Mol Biotechnol, 2015 Jun. PMID 25663099
    4. Pleiotropic modes of action in tumor cells of RNASET2, an evolutionary highly conserved extracellular RNase. Lualdi M, et al. Oncotarget, 2015 Apr 10. PMID 25797262, Free PMC Article
    5. Role and Mechanism of RNASET2 in the Pathogenesis of Vitiligo. Wang Q, et al. J Investig Dermatol Symp Proc, 2015 Jul. PMID 26067323

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pathogenic Roles for RNASET2 in Clear Cell Renal Cell Carcinoma.
      Title: Pathogenic Roles for RNASET2 in Clear Cell Renal Cell Carcinoma.
    2. Systematic analysis of RNASET2 gene as a potential prognostic and immunological biomarker in clear cell renal cell carcinoma.
      Title: Systematic analysis of RNASET2 gene as a potential prognostic and immunological biomarker in clear cell renal cell carcinoma.
    3. HIF2alpha-induced upregulation of RNASET2 promotes triglyceride synthesis and enhances cell migration in clear cell renal cell carcinoma.
      Title: HIF2α-induced upregulation of RNASET2 promotes triglyceride synthesis and enhances cell migration in clear cell renal cell carcinoma.
    4. A potential role of human RNASET2 overexpression in the pathogenesis of Graves' disease.
      Title: A potential role of human RNASET2 overexpression in the pathogenesis of Graves' disease.
    5. Diagnostic and therapeutic potential of RNASET2 in Crohn's disease: Disease-risk polymorphism modulates allelic-imbalance in expression and circulating protein levels and recombinant-RNASET2 attenuates pro-inflammatory cytokine secretion.
      Title: Diagnostic and therapeutic potential of RNASET2 in Crohn's disease: Disease-risk polymorphism modulates allelic-imbalance in expression and circulating protein levels and recombinant-RNASET2 attenuates pro-inflammatory cytokine secretion.
    6. Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
      Title: Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
    7. Human RNASET2: A Highly Pleiotropic and Evolutionary Conserved Tumor Suppressor Gene Involved in the Control of Ovarian Cancer Pathogenesis.
      Title: Human RNASET2: A Highly Pleiotropic and Evolutionary Conserved Tumor Suppressor Gene Involved in the Control of Ovarian Cancer Pathogenesis.
    8. FBXO6-mediated RNASET2 ubiquitination and degradation governs the development of ovarian cancer.
      Title: FBXO6-mediated RNASET2 ubiquitination and degradation governs the development of ovarian cancer.
    9. Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.
      Title: Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia.
    10. Hypoxia Enhances the Expression of RNASET2 in Human Monocyte-Derived Dendritic Cells: Role of PI3K/AKT Pathway.
      Title: Hypoxia Enhances the Expression of RNASET2 in Human Monocyte-Derived Dendritic Cells: Role of PI3K/AKT Pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cystic leukoencephalopathy without megalencephaly
    MedGen: C2751843 OMIM: 612951 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two new risk loci for Graves' disease.
    EBI GWAS Catalog
    Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
    EBI GWAS Catalog
    Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations.
    EBI GWAS Catalog
    Genome-wide association study of endometrial cancer in E2C2.
    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ribonuclease T2 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in RNA catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease T2
    Names
    ribonuclease 6
    NP_003721.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016280.2 RefSeqGene

      Range
      5040..39477
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003730.6 → NP_003721.2  ribonuclease T2 precursor

      See identical proteins and their annotated locations for NP_003721.2

      Status: REVIEWED

      Source sequence(s)
      AL133458, AL159163
      Consensus CDS
      CCDS5295.1
      UniProtKB/Swiss-Prot
      B2RDA7, E1P5C3, O00584, Q5T8Q0, Q8TCU2, Q9BZ46, Q9BZ47
      UniProtKB/TrEMBL
      D6RHI9
      Related
      ENSP00000426455.2, ENST00000508775.6
      Conserved Domains (1) summary
      cd01061
      Location:34 → 227
      RNase_T2_euk; Ribonuclease T2 (RNase T2) is a widespread family of secreted RNases found in every organism examined thus far. This family includes RNase Rh, RNase MC1, RNase LE, and self-incompatibility RNases (S-RNases). Plant T2 RNases are expressed during leaf ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      166922113..166956550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      168304858..168339306 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_017795.1: Suppressed sequence

      Description
      NM_017795.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.

    2. NM_018726.1: Suppressed sequence

      Description
      NM_018726.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00584.2 GenPept UniProtKB/Swiss-Prot:O00584

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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