Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
6041 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Ribonuclease L |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RNASEL |
SynonymsGene synonyms aliases
|
PRCA1, RNS4 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q25.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP 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 |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
BRCA1 |
Activation |
15940267 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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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 |
|
Sequence |
|
Sequence length |
741 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 |
23412934 |
Prostate cancer |
Malignant neoplasm of prostate, Prostate cancer, familial, Familial prostate cancer |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
27318894, 16114055, 17020975, 23141781, 28031937 |
Prostate cancer, hereditary |
PROSTATE CANCER, HEREDITARY, 1 |
rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466 |
|
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Neoplasms |
Neoplasms |
|
|
Prostatic neoplasms |
Prostatic Neoplasms |
|
27318894, 17020975, 16114055 |
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