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Aliases for RNASET2 Gene

Aliases for RNASET2 Gene

  • Ribonuclease T2 2 3 5
  • Ribonuclease 6 3 4
  • RNASE6PL 3 4
  • EC 3.1.27.1 56
  • EC 3.1.27.- 4
  • BA514O12.3 3

External Ids for RNASET2 Gene

Previous GeneCards Identifiers for RNASET2 Gene

  • GC06M167252
  • GC06M167313
  • GC06M164815
  • GC06M167342

Summaries for RNASET2 Gene

Entrez Gene Summary for RNASET2 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]

GeneCards Summary for RNASET2 Gene

RNASET2 (Ribonuclease T2) is a Protein Coding gene. Diseases associated with RNASET2 include Leukoencephalopathy, Cystic, Without Megalencephaly and Rnase T2-Deficient Leukoencephalopathy. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include RNA binding and endoribonuclease activity. An important paralog of this gene is ENSG00000249141.

UniProtKB/Swiss-Prot for RNASET2 Gene

  • Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism.

Gene Wiki entry for RNASET2 Gene

Additional gene information for RNASET2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNASET2 Gene

Genomics for RNASET2 Gene

GeneHancer (GH) Regulatory Elements for RNASET2 Gene

Promoters and enhancers for RNASET2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I166948 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 606.8 +2.6 2614 11.9 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 RNASET2 ENSG00000249141 CCR6 GPR31 LOC105378119
GH06I166997 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE 45.2 -42.5 -42496 5 HDGF FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ENSG00000272980 FGFR1OP LOC105378120 MIR3939 RNASET2 HNRNPA1P49 GPR31 GC06P167042 PIR56971
GH06I167117 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.5 -163.9 -163896 6.3 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF280A SLC30A9 CBX5 ZNF143 CCR6 LOC105378122 RNASET2 ENSG00000249141 ENSG00000272980
GH06I167046 Enhancer 1.2 FANTOM5 Ensembl ENCODE 31.7 -90.3 -90255 2.2 HDGF CTCF PKNOX1 SMAD1 BATF IRF4 RAD21 ZNF366 POLR2A ATF7 RNASET2 CCR6 LOC105378120 FGFR1OP ENSG00000249141 GPR31 GC06P167051 GC06P167042 PIR56971 ENSG00000272980
GH06I167089 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.7 -135.8 -135779 7.3 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 RNASET2 LOC105378120 FGFR1OP CCR6 GPR31 GC06M167096 GC06P167097 PIR47545 PIR45022 PIR53334
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNASET2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNASET2 gene promoter:

Genomic Locations for RNASET2 Gene

Genomic Locations for RNASET2 Gene
chr6:166,929,504-166,957,191
(GRCh38/hg38)
Size:
27,688 bases
Orientation:
Minus strand
chr6:167,342,992-167,370,679
(GRCh37/hg19)

Genomic View for RNASET2 Gene

Genes around RNASET2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNASET2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNASET2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNASET2 Gene

Proteins for RNASET2 Gene

  • Protein details for RNASET2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00584-RNT2_HUMAN
    Recommended name:
    Ribonuclease T2
    Protein Accession:
    O00584
    Secondary Accessions:
    • B2RDA7
    • E1P5C3
    • Q5T8Q0
    • Q8TCU2
    • Q9BZ46
    • Q9BZ47

    Protein attributes for RNASET2 Gene

    Size:
    256 amino acids
    Molecular mass:
    29481 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RNASET2 Gene

    Alternative splice isoforms for RNASET2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNASET2 Gene

Selected DME Specific Peptides for RNASET2 Gene

O00584:
  • HEWEKHGTC
  • TIHGLWPD

Post-translational modifications for RNASET2 Gene

  • Ubiquitination at Lys157
  • Glycosylation at Asn76, Asn106, and Asn212
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for RNASET2

Domains & Families for RNASET2 Gene

Gene Families for RNASET2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for RNASET2 Gene

Graphical View of Domain Structure for InterPro Entry

O00584

UniProtKB/Swiss-Prot:

RNT2_HUMAN :
  • Belongs to the RNase T2 family.
Family:
  • Belongs to the RNase T2 family.
genes like me logo Genes that share domains with RNASET2: view

Function for RNASET2 Gene

Molecular function for RNASET2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Zn(2+) and Cu(2+).
UniProtKB/Swiss-Prot Function:
Has ribonuclease activity, with higher activity at acidic pH. Probably is involved in lysosomal degradation of ribosomal RNA (By similarity). Probably plays a role in cellular RNA catabolism.

Enzyme Numbers (IUBMB) for RNASET2 Gene

Phenotypes From GWAS Catalog for RNASET2 Gene

Gene Ontology (GO) - Molecular Function for RNASET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004519 endonuclease activity IEA --
GO:0004540 ribonuclease activity TAS,IDA 22735700
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RNASET2: view
genes like me logo Genes that share phenotypes with RNASET2: view

Human Phenotype Ontology for RNASET2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RNASET2 Gene

MGI Knock Outs for RNASET2:

Animal Model Products

CRISPR Products

miRNA for RNASET2 Gene

miRTarBase miRNAs that target RNASET2

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for RNASET2 Gene

Localization for RNASET2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNASET2 Gene

Secreted. Lysosome lumen. Endoplasmic reticulum lumen. Note=Subcellular fractionation of transfected ovarian cancer cells reveals full-length RNASET2 in the endoplasmic reticulum fraction and the 2 smaller RNASET2 proteolytic products in the lysosome fraction.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNASET2 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5

Gene Ontology (GO) - Cellular Components for RNASET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 16620762
GO:0005764 lysosome IDA,IEA 16620762
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 16620762
genes like me logo Genes that share ontologies with RNASET2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNASET2 Gene

Pathways & Interactions for RNASET2 Gene

genes like me logo Genes that share pathways with RNASET2: view

Pathways by source for RNASET2 Gene

3 Reactome pathways for RNASET2 Gene

Gene Ontology (GO) - Biological Process for RNASET2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006401 RNA catabolic process TAS,IDA 22735700
GO:0043312 neutrophil degranulation TAS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with RNASET2: view

No data available for SIGNOR curated interactions for RNASET2 Gene

Drugs & Compounds for RNASET2 Gene

No Compound Related Data Available

Transcripts for RNASET2 Gene

Unigene Clusters for RNASET2 Gene

Ribonuclease T2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNASET2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2:
SP3: - - - - - - - -

Relevant External Links for RNASET2 Gene

GeneLoc Exon Structure for
RNASET2
ECgene alternative splicing isoforms for
RNASET2

Expression for RNASET2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNASET2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNASET2 Gene

This gene is overexpressed in Whole Blood (x13.1) and Spleen (x4.4).

Protein differential expression in normal tissues from HIPED for RNASET2 Gene

This gene is overexpressed in Spleen (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RNASET2 Gene



Protein tissue co-expression partners for RNASET2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNASET2 Gene:

RNASET2

SOURCE GeneReport for Unigene cluster for RNASET2 Gene:

Hs.529989

mRNA Expression by UniProt/SwissProt for RNASET2 Gene:

O00584-RNT2_HUMAN
Tissue specificity: Ubiquitous. Higher expression levels observed in the temporal lobe and fetal brain.

Evidence on tissue expression from TISSUES for RNASET2 Gene

  • Intestine(4)
  • Pancreas(4)
  • Spleen(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RNASET2 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • head
General:
  • spinal cord
genes like me logo Genes that share expression patterns with RNASET2: view

Orthologs for RNASET2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RNASET2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNASET2 34 33
  • 99.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rnaset2b 16 34 33
  • 77.83 (n)
Rnaset2a 34
  • 64 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Rnaset2 33
  • 76.77 (n)
dog
(Canis familiaris)
Mammalia RNASET2 33
  • 75.5 (n)
-- 34
  • 60 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNASET2 34 33
  • 71.94 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves RNASET2 34 33
  • 65.45 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rnaset2 33
  • 61.97 (n)
Str.9691 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.7197 33
zebrafish
(Danio rerio)
Actinopterygii rnaset2 34 33
  • 56.84 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta RNaseX25 34 33
  • 46.63 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009842 33
  • 45.02 (n)
worm
(Caenorhabditis elegans)
Secernentea K10C9.3 33 34
  • 45.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNY1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons RNS3 33
  • 44.76 (n)
rice
(Oryza sativa)
Liliopsida Os08g0434100 33
  • 47.1 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1740 34
  • 30 (a)
OneToMany
Species where no ortholog for RNASET2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNASET2 Gene

ENSEMBL:
Gene Tree for RNASET2 (if available)
TreeFam:
Gene Tree for RNASET2 (if available)

Paralogs for RNASET2 Gene

Paralogs for RNASET2 Gene

(1) SIMAP similar genes for RNASET2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for RNASET2 Gene

genes like me logo Genes that share paralogs with RNASET2: view

Variants for RNASET2 Gene

Sequence variations from dbSNP and Humsavar for RNASET2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1011904673 uncertain-significance, Leukoencephalopathy, cystic, without megalencephaly 166,956,286(-) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1044059 benign, Leukoencephalopathy, cystic, without megalencephaly 166,956,409(-) C/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1047901021 uncertain-significance, Leukoencephalopathy, cystic, without megalencephaly 166,956,214(-) T/A/C 5_prime_UTR_variant
rs11159 likely-benign, Leukoencephalopathy, cystic, without megalencephaly 166,929,653(-) G/A/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, synonymous_variant
rs11557915 likely-benign, Leukoencephalopathy, cystic, without megalencephaly 166,956,167(-) G/A 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for RNASET2 Gene

Variant ID Type Subtype PubMed ID
dgv11053n54 CNV loss 21841781
esv2733211 CNV deletion 23290073
esv2733212 CNV deletion 23290073
esv3432200 CNV duplication 20981092
esv3611644 CNV gain 21293372
nsv1034359 CNV loss 25217958
nsv605260 CNV gain 21841781

Variation tolerance for RNASET2 Gene

Residual Variation Intolerance Score: 77.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNASET2 Gene

Human Gene Mutation Database (HGMD)
RNASET2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNASET2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNASET2 Gene

Disorders for RNASET2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNASET2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukoencephalopathy, cystic, without megalencephaly
  • clwm
rnase t2-deficient leukoencephalopathy
  • leukoencephalopathy, cystic, without megalencephaly
megalencephaly
  • macroencephaly
congenital cytomegalovirus
  • congenital cytomegalovirus infection
aicardi-goutieres syndrome
  • cree encephalitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RNT2_HUMAN
  • Leukoencephalopathy, cystic, without megalencephaly (LCWM) [MIM:612951]: An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications. {ECO:0000269 PubMed:19525954, ECO:0000269 PubMed:21199949}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RNASET2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNASET2: view

No data available for Genatlas for RNASET2 Gene

Publications for RNASET2 Gene

  1. Tumor and metastasis suppression by the human RNASET2 gene. (PMID: 15809705) Acquati F … Taramelli R (International journal of oncology 2005) 3 4 22 58
  2. Mammalian Rh/T2/S-glycoprotein ribonuclease family genes: cloning of a human member located in a region of chromosome 6 (6q27) frequently deleted in human malignancies. (PMID: 9192857) Trubia M … Taramelli R (Genomics 1997) 2 3 4 58
  3. Structure and activity of the only human RNase T2. (PMID: 22735700) Thorn A … Krätzner R (Nucleic acids research 2012) 3 4 58
  4. rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. (PMID: 21199949) Haud N … Hurlstone AF (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  5. A genome-wide association study identifies two new risk loci for Graves' disease. (PMID: 21841780) Chu X … China Consortium for Genetics of Autoimmune Thyroid Disease (Nature genetics 2011) 3 44 58

Products for RNASET2 Gene

Sources for RNASET2 Gene

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