Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6041
Gene name Gene Name - the full gene name approved by the HGNC.
Ribonuclease L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNASEL
Synonyms (NCBI Gene) Gene synonyms aliases
PRCA1, RNS4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candida
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs486907 C>T Risk-factor Non coding transcript variant, coding sequence variant, missense variant
rs74315364 C>A Conflicting-interpretations-of-pathogenicity, pathogenic, likely-pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs74315365 C>T Pathogenic Missense variant, non coding transcript variant, initiator codon variant
rs146336238 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
rs147141911 C>A,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000902 hsa-miR-15a-5p Microarray 18362358
MIRT000901 hsa-miR-16-5p Microarray 18362358
MIRT019056 hsa-miR-335-5p Microarray 18185580
MIRT024876 hsa-miR-215-5p Microarray 19074876
MIRT026865 hsa-miR-192-5p Microarray 19074876
Transcription factors
Transcription factor Regulation Reference
BRCA1 Activation 15940267
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IDA 7514601
GO:0003723 Function RNA binding IEA
GO:0004518 Function Nuclease activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
180435 10050 ENSG00000135828
Protein
UniProt ID Q05823
Protein name 2-5A-dependent ribonuclease (2-5A-dependent RNase) (EC 3.1.26.-) (Ribonuclease 4) (Ribonuclease L) (RNase L)
Protein function Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibitio
PDB 1WDY , 4G8K , 4G8L , 4OAU , 4OAV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 58 89 Ankyrin repeat Repeat
PF00023 Ank 167 200 Ankyrin repeat Repeat
PF00069 Pkinase 368 524 Protein kinase domain Domain
PF06479 Ribonuc_2-5A 592 720 Ribonuclease 2-5A Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in spleen and thymus followed by prostate, testis, uterus, small intestine, colon and peripheral blood leukocytes.
Sequence
MESRDHNNPQEGPTSSSGRRAAVEDNHLLIKAVQNEDVDLVQQLLEGGANVNFQEEEGGW
TPLHNAVQMSREDIVELLLRHGADPVLRK
KNGATPFILAAIAGSVKLLKLFLSKGADVNE
CDFYGFTAFMEAAVYGKVKALKFLYKRGANVNLRRKTKEDQERLRKGGATALMDAAEKGH
VEVLKILLDEMGADVNACDN
MGRNALIHALLSSDDSDVEAITHLLLDHGADVNVRGERGK
TPLILAVEKKHLGLVQRLLEQEHIEINDTDSDGKTALLLAVELKLKKIAELLCKRGASTD
CGDLVMTARRNYDHSLVKVLLSHGAKEDFHPPAEDWKPQSSHWGAALKDLHRIYRPMIGK
LKFFIDEKYKIADTSEGGIYLGFYEKQEVAVKTFCEGSPRAQREVSCLQSSRENSHLVTF
YGSESHRGHLFVCVTLCEQTLEACLDVHRGEDVENEEDEFARNVLSSIFKAVQELHLSCG
YTHQDLQPQNILIDSKKAAHLADFDKSIKWAGDPQEVKRDLEDL
GRLVLYVVKKGSISFE
DLKAQSNEEVVQLSPDEETKDLIHRLFHPGEHVRDCLSDLLGHPFFWTWESRYRTLRNVG
NESDIKTRKSESEILRLLQPGPSEHSKSFDKWTTKINECVMKKMNKFYEKRGNFYQNTVG
DLLKFIRNLGEHIDEEKHKKMKLKIGDPSLYFQKTFPDLVIYVYTKLQNTEYRKHFPQTH

SPNKPQCDGAGGASGLASPGC
Sequence length 741
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  NOD-like receptor signaling pathway
Hepatitis C
Influenza A
Herpes simplex virus 1 infection
  OAS antiviral response
Interferon alpha/beta signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Prostate Cancer, Hereditary prostate cancer, hereditary, 1 rs74315365 N/A
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
Diabetes Type 2 diabetes N/A N/A GWAS
hereditary cancer Hereditary cancer N/A N/A ClinVar
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 17263642
Acute Retroviral Syndrome Associate 19567509
Adenocarcinoma of Lung Associate 28362255
Aicardi Goutieres syndrome Associate 32958664
Breast Neoplasms Associate 18575592, 25070080, 29422015
Calcinosis Cutis Associate 12915880
Calculi Associate 18676870
Carcinoma Hepatocellular Associate 28704535
Carcinoma Squamous Cell Associate 24699816
Cerebral Infarction Associate 39290696