Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6041
Gene name	Ribonuclease L
Gene symbol	RNASEL
Synonyms (NCBI Gene)	PRCA1RNS4
Chromosome	1
Chromosome location	1q25.3
Summary	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

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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

293

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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
MIRT438434	hsa-miR-29a-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	23113544
MIRT438434	hsa-miR-29a-3p	ImmunoblotLuciferase reporter assayqRT-PCRWestern blot	23113544
MIRT441869	hsa-miR-409-3p	PAR-CLIP	22100165
MIRT441868	hsa-miR-4480	PAR-CLIP	22100165
MIRT441867	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441866	hsa-miR-8070	PAR-CLIP	22100165
MIRT441865	hsa-miR-4776-3p	PAR-CLIP	22100165
MIRT441869	hsa-miR-409-3p	PAR-CLIP	22100165
MIRT441868	hsa-miR-4480	PAR-CLIP	22100165
MIRT441867	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT441866	hsa-miR-8070	PAR-CLIP	22100165
MIRT441865	hsa-miR-4776-3p	PAR-CLIP	22100165
MIRT1308787	hsa-miR-141	CLIP-seq
MIRT1308788	hsa-miR-200a	CLIP-seq
MIRT1308789	hsa-miR-3671	CLIP-seq
MIRT1308790	hsa-miR-4662a-3p	CLIP-seq
MIRT1308791	hsa-miR-4762-5p	CLIP-seq
MIRT1308792	hsa-miR-607	CLIP-seq
MIRT1308793	hsa-miR-802	CLIP-seq
MIRT2091612	hsa-miR-1252	CLIP-seq
MIRT2091613	hsa-miR-139-5p	CLIP-seq
MIRT2091614	hsa-miR-142-5p	CLIP-seq
MIRT2091615	hsa-miR-200b	CLIP-seq
MIRT2091616	hsa-miR-200c	CLIP-seq
MIRT2091617	hsa-miR-21	CLIP-seq
MIRT2091618	hsa-miR-28-3p	CLIP-seq
MIRT2091619	hsa-miR-320a	CLIP-seq
MIRT2091620	hsa-miR-320b	CLIP-seq
MIRT2091621	hsa-miR-320c	CLIP-seq
MIRT2091622	hsa-miR-320d	CLIP-seq
MIRT2091623	hsa-miR-338-3p	CLIP-seq
MIRT2091624	hsa-miR-34c-3p	CLIP-seq
MIRT2091625	hsa-miR-3688-3p	CLIP-seq
MIRT2091626	hsa-miR-4280	CLIP-seq
MIRT2091627	hsa-miR-429	CLIP-seq
MIRT2091628	hsa-miR-4422	CLIP-seq
MIRT2091629	hsa-miR-4429	CLIP-seq
MIRT2091630	hsa-miR-4530	CLIP-seq
MIRT2091631	hsa-miR-4639-3p	CLIP-seq
MIRT2091632	hsa-miR-548a-5p	CLIP-seq
MIRT2091633	hsa-miR-548ab	CLIP-seq
MIRT2091634	hsa-miR-548ak	CLIP-seq
MIRT2091635	hsa-miR-548b-5p	CLIP-seq
MIRT2091636	hsa-miR-548c-5p	CLIP-seq
MIRT2091637	hsa-miR-548d-5p	CLIP-seq
MIRT2091638	hsa-miR-548h	CLIP-seq
MIRT2091639	hsa-miR-548i	CLIP-seq
MIRT2091640	hsa-miR-548j	CLIP-seq
MIRT2091641	hsa-miR-548k	CLIP-seq
MIRT2091642	hsa-miR-548l	CLIP-seq
MIRT2091643	hsa-miR-548n	CLIP-seq
MIRT2091644	hsa-miR-548t	CLIP-seq
MIRT2091645	hsa-miR-548w	CLIP-seq
MIRT2091646	hsa-miR-548y	CLIP-seq
MIRT2091647	hsa-miR-559	CLIP-seq
MIRT2091648	hsa-miR-590-5p	CLIP-seq
MIRT2091649	hsa-miR-767-3p	CLIP-seq
MIRT2316208	hsa-miR-105	CLIP-seq
MIRT2091614	hsa-miR-142-5p	CLIP-seq
MIRT2091615	hsa-miR-200b	CLIP-seq
MIRT2091616	hsa-miR-200c	CLIP-seq
MIRT2091617	hsa-miR-21	CLIP-seq
MIRT2091618	hsa-miR-28-3p	CLIP-seq
MIRT2091619	hsa-miR-320a	CLIP-seq
MIRT2091620	hsa-miR-320b	CLIP-seq
MIRT2091621	hsa-miR-320c	CLIP-seq
MIRT2091622	hsa-miR-320d	CLIP-seq
MIRT2091625	hsa-miR-3688-3p	CLIP-seq
MIRT2316209	hsa-miR-375	CLIP-seq
MIRT2091626	hsa-miR-4280	CLIP-seq
MIRT2091627	hsa-miR-429	CLIP-seq
MIRT2316210	hsa-miR-4326	CLIP-seq
MIRT2091628	hsa-miR-4422	CLIP-seq
MIRT2091629	hsa-miR-4429	CLIP-seq
MIRT2316211	hsa-miR-4460	CLIP-seq
MIRT2316212	hsa-miR-4464	CLIP-seq
MIRT2316213	hsa-miR-4494	CLIP-seq
MIRT2316214	hsa-miR-4522	CLIP-seq
MIRT2316215	hsa-miR-4712-3p	CLIP-seq
MIRT2316216	hsa-miR-4727-3p	CLIP-seq
MIRT2316217	hsa-miR-4727-5p	CLIP-seq
MIRT2316218	hsa-miR-4748	CLIP-seq
MIRT2316219	hsa-miR-4769-3p	CLIP-seq
MIRT2316220	hsa-miR-4778-3p	CLIP-seq
MIRT2316221	hsa-miR-499a-5p	CLIP-seq
MIRT2091632	hsa-miR-548a-5p	CLIP-seq
MIRT2091633	hsa-miR-548ab	CLIP-seq
MIRT2091634	hsa-miR-548ak	CLIP-seq
MIRT2091635	hsa-miR-548b-5p	CLIP-seq
MIRT2091636	hsa-miR-548c-5p	CLIP-seq
MIRT2091637	hsa-miR-548d-5p	CLIP-seq
MIRT2091638	hsa-miR-548h	CLIP-seq
MIRT2091639	hsa-miR-548i	CLIP-seq
MIRT2091640	hsa-miR-548j	CLIP-seq
MIRT2091641	hsa-miR-548k	CLIP-seq
MIRT2091642	hsa-miR-548l	CLIP-seq
MIRT2091645	hsa-miR-548w	CLIP-seq
MIRT2091646	hsa-miR-548y	CLIP-seq
MIRT2316222	hsa-miR-555	CLIP-seq
MIRT2091647	hsa-miR-559	CLIP-seq
MIRT2091648	hsa-miR-590-5p	CLIP-seq
MIRT2316223	hsa-miR-657	CLIP-seq
MIRT2091649	hsa-miR-767-3p	CLIP-seq
MIRT2091618	hsa-miR-28-3p	CLIP-seq
MIRT2458297	hsa-miR-1914	CLIP-seq
MIRT2458298	hsa-miR-3151	CLIP-seq
MIRT2458299	hsa-miR-3192	CLIP-seq
MIRT2458300	hsa-miR-4283	CLIP-seq
MIRT2458301	hsa-miR-4300	CLIP-seq
MIRT2458302	hsa-miR-4447	CLIP-seq
MIRT2458303	hsa-miR-4472	CLIP-seq
MIRT2458304	hsa-miR-4489	CLIP-seq
MIRT2458305	hsa-miR-4656	CLIP-seq
MIRT2458306	hsa-miR-491-5p	CLIP-seq
MIRT2458307	hsa-miR-661	CLIP-seq
MIRT2458308	hsa-miR-920	CLIP-seq
MIRT2316208	hsa-miR-105	CLIP-seq
MIRT2612301	hsa-miR-1236	CLIP-seq
MIRT2091612	hsa-miR-1252	CLIP-seq
MIRT2612302	hsa-miR-1266	CLIP-seq
MIRT2612303	hsa-miR-1293	CLIP-seq
MIRT2612304	hsa-miR-130a	CLIP-seq
MIRT2612305	hsa-miR-130b	CLIP-seq
MIRT2612306	hsa-miR-1343	CLIP-seq
MIRT2612307	hsa-miR-146a	CLIP-seq
MIRT2612308	hsa-miR-146b-5p	CLIP-seq
MIRT2612309	hsa-miR-1470	CLIP-seq
MIRT2612310	hsa-miR-148a	CLIP-seq
MIRT2612311	hsa-miR-148b	CLIP-seq
MIRT2612312	hsa-miR-152	CLIP-seq
MIRT2612313	hsa-miR-198	CLIP-seq
MIRT2612314	hsa-miR-19a	CLIP-seq
MIRT2612315	hsa-miR-19b	CLIP-seq
MIRT2091615	hsa-miR-200b	CLIP-seq
MIRT2091616	hsa-miR-200c	CLIP-seq
MIRT2612316	hsa-miR-2052	CLIP-seq
MIRT2091617	hsa-miR-21	CLIP-seq
MIRT2612317	hsa-miR-2114	CLIP-seq
MIRT2612318	hsa-miR-2116	CLIP-seq
MIRT2091618	hsa-miR-28-3p	CLIP-seq
MIRT2612319	hsa-miR-301a	CLIP-seq
MIRT2612320	hsa-miR-301b	CLIP-seq
MIRT2612321	hsa-miR-3148	CLIP-seq
MIRT2458298	hsa-miR-3151	CLIP-seq
MIRT2612322	hsa-miR-3200-5p	CLIP-seq
MIRT2091619	hsa-miR-320a	CLIP-seq
MIRT2091620	hsa-miR-320b	CLIP-seq
MIRT2091621	hsa-miR-320c	CLIP-seq
MIRT2091622	hsa-miR-320d	CLIP-seq
MIRT2612323	hsa-miR-323-5p	CLIP-seq
MIRT2091623	hsa-miR-338-3p	CLIP-seq
MIRT2612324	hsa-miR-342-5p	CLIP-seq
MIRT2091624	hsa-miR-34c-3p	CLIP-seq
MIRT2612325	hsa-miR-361-3p	CLIP-seq
MIRT2612326	hsa-miR-3664-3p	CLIP-seq
MIRT2612327	hsa-miR-3666	CLIP-seq
MIRT2612328	hsa-miR-3682-3p	CLIP-seq
MIRT2091625	hsa-miR-3688-3p	CLIP-seq
MIRT2612329	hsa-miR-3690	CLIP-seq
MIRT2612330	hsa-miR-3907	CLIP-seq
MIRT2612331	hsa-miR-3909	CLIP-seq
MIRT2612332	hsa-miR-3921	CLIP-seq
MIRT2612333	hsa-miR-3974	CLIP-seq
MIRT2612334	hsa-miR-4254	CLIP-seq
MIRT2612335	hsa-miR-4276	CLIP-seq
MIRT2612336	hsa-miR-4277	CLIP-seq
MIRT2091627	hsa-miR-429	CLIP-seq
MIRT2612337	hsa-miR-4295	CLIP-seq
MIRT2612338	hsa-miR-4307	CLIP-seq
MIRT2612339	hsa-miR-4313	CLIP-seq
MIRT2316210	hsa-miR-4326	CLIP-seq
MIRT2091629	hsa-miR-4429	CLIP-seq
MIRT2458302	hsa-miR-4447	CLIP-seq
MIRT2612340	hsa-miR-4450	CLIP-seq
MIRT2316211	hsa-miR-4460	CLIP-seq
MIRT2458303	hsa-miR-4472	CLIP-seq
MIRT2612341	hsa-miR-4483	CLIP-seq
MIRT2316213	hsa-miR-4494	CLIP-seq
MIRT2612342	hsa-miR-4518	CLIP-seq
MIRT2612343	hsa-miR-451b	CLIP-seq
MIRT2316214	hsa-miR-4522	CLIP-seq
MIRT2612344	hsa-miR-4524	CLIP-seq
MIRT2091630	hsa-miR-4530	CLIP-seq
MIRT2612345	hsa-miR-454	CLIP-seq
MIRT2091631	hsa-miR-4639-3p	CLIP-seq
MIRT2612346	hsa-miR-4651	CLIP-seq
MIRT2612347	hsa-miR-4653-5p	CLIP-seq
MIRT2612348	hsa-miR-4664-5p	CLIP-seq
MIRT2612349	hsa-miR-4667-3p	CLIP-seq
MIRT2612350	hsa-miR-4682	CLIP-seq
MIRT2612351	hsa-miR-4694-3p	CLIP-seq
MIRT2612352	hsa-miR-4724-5p	CLIP-seq
MIRT2316216	hsa-miR-4727-3p	CLIP-seq
MIRT2316217	hsa-miR-4727-5p	CLIP-seq
MIRT2316219	hsa-miR-4769-3p	CLIP-seq
MIRT2316220	hsa-miR-4778-3p	CLIP-seq
MIRT2612353	hsa-miR-490-5p	CLIP-seq
MIRT2458306	hsa-miR-491-5p	CLIP-seq
MIRT2316221	hsa-miR-499a-5p	CLIP-seq
MIRT2612354	hsa-miR-522	CLIP-seq
MIRT2612355	hsa-miR-548aa	CLIP-seq
MIRT2612356	hsa-miR-548ae	CLIP-seq
MIRT2612357	hsa-miR-548aj	CLIP-seq
MIRT2612358	hsa-miR-548am	CLIP-seq
MIRT2612359	hsa-miR-548x	CLIP-seq
MIRT2316222	hsa-miR-555	CLIP-seq
MIRT2612360	hsa-miR-580	CLIP-seq
MIRT2612361	hsa-miR-589	CLIP-seq
MIRT2091648	hsa-miR-590-5p	CLIP-seq
MIRT2612362	hsa-miR-603	CLIP-seq
MIRT2612363	hsa-miR-606	CLIP-seq
MIRT2612364	hsa-miR-608	CLIP-seq
MIRT2612365	hsa-miR-627	CLIP-seq
MIRT2612366	hsa-miR-764	CLIP-seq
MIRT2612367	hsa-miR-924	CLIP-seq
MIRT2316208	hsa-miR-105	CLIP-seq
MIRT2612301	hsa-miR-1236	CLIP-seq
MIRT2091612	hsa-miR-1252	CLIP-seq
MIRT2612303	hsa-miR-1293	CLIP-seq
MIRT2612304	hsa-miR-130a	CLIP-seq
MIRT2612305	hsa-miR-130b	CLIP-seq
MIRT2612306	hsa-miR-1343	CLIP-seq
MIRT2612307	hsa-miR-146a	CLIP-seq
MIRT2612308	hsa-miR-146b-5p	CLIP-seq
MIRT2612309	hsa-miR-1470	CLIP-seq
MIRT2612310	hsa-miR-148a	CLIP-seq
MIRT2612311	hsa-miR-148b	CLIP-seq
MIRT2612312	hsa-miR-152	CLIP-seq
MIRT2689786	hsa-miR-1910	CLIP-seq
MIRT2612314	hsa-miR-19a	CLIP-seq
MIRT2612315	hsa-miR-19b	CLIP-seq
MIRT2091615	hsa-miR-200b	CLIP-seq
MIRT2091616	hsa-miR-200c	CLIP-seq
MIRT2612316	hsa-miR-2052	CLIP-seq
MIRT2612317	hsa-miR-2114	CLIP-seq
MIRT2091618	hsa-miR-28-3p	CLIP-seq
MIRT2689787	hsa-miR-2861	CLIP-seq
MIRT2612319	hsa-miR-301a	CLIP-seq
MIRT2612320	hsa-miR-301b	CLIP-seq
MIRT2612321	hsa-miR-3148	CLIP-seq
MIRT2458298	hsa-miR-3151	CLIP-seq
MIRT2612322	hsa-miR-3200-5p	CLIP-seq
MIRT2612323	hsa-miR-323-5p	CLIP-seq
MIRT2091623	hsa-miR-338-3p	CLIP-seq
MIRT2612324	hsa-miR-342-5p	CLIP-seq
MIRT2091624	hsa-miR-34c-3p	CLIP-seq
MIRT2612325	hsa-miR-361-3p	CLIP-seq
MIRT2612327	hsa-miR-3666	CLIP-seq
MIRT2091625	hsa-miR-3688-3p	CLIP-seq
MIRT2612329	hsa-miR-3690	CLIP-seq
MIRT2612331	hsa-miR-3909	CLIP-seq
MIRT2612333	hsa-miR-3974	CLIP-seq
MIRT2612334	hsa-miR-4254	CLIP-seq
MIRT2612335	hsa-miR-4276	CLIP-seq
MIRT2091627	hsa-miR-429	CLIP-seq
MIRT2612337	hsa-miR-4295	CLIP-seq
MIRT2612339	hsa-miR-4313	CLIP-seq
MIRT2091628	hsa-miR-4422	CLIP-seq
MIRT2458302	hsa-miR-4447	CLIP-seq
MIRT2458303	hsa-miR-4472	CLIP-seq
MIRT2612341	hsa-miR-4483	CLIP-seq
MIRT2316213	hsa-miR-4494	CLIP-seq
MIRT2612343	hsa-miR-451b	CLIP-seq
MIRT2316214	hsa-miR-4522	CLIP-seq
MIRT2612344	hsa-miR-4524	CLIP-seq
MIRT2091630	hsa-miR-4530	CLIP-seq
MIRT2612345	hsa-miR-454	CLIP-seq
MIRT2612346	hsa-miR-4651	CLIP-seq
MIRT2612348	hsa-miR-4664-5p	CLIP-seq
MIRT2612349	hsa-miR-4667-3p	CLIP-seq
MIRT2612350	hsa-miR-4682	CLIP-seq
MIRT2612352	hsa-miR-4724-5p	CLIP-seq
MIRT2316217	hsa-miR-4727-5p	CLIP-seq
MIRT2316219	hsa-miR-4769-3p	CLIP-seq
MIRT2316220	hsa-miR-4778-3p	CLIP-seq
MIRT2612353	hsa-miR-490-5p	CLIP-seq
MIRT2458306	hsa-miR-491-5p	CLIP-seq
MIRT2316221	hsa-miR-499a-5p	CLIP-seq
MIRT2612355	hsa-miR-548aa	CLIP-seq
MIRT2612356	hsa-miR-548ae	CLIP-seq
MIRT2612357	hsa-miR-548aj	CLIP-seq
MIRT2612358	hsa-miR-548am	CLIP-seq
MIRT2612359	hsa-miR-548x	CLIP-seq
MIRT2612360	hsa-miR-580	CLIP-seq
MIRT2612361	hsa-miR-589	CLIP-seq
MIRT2612362	hsa-miR-603	CLIP-seq
MIRT2612363	hsa-miR-606	CLIP-seq
MIRT2612364	hsa-miR-608	CLIP-seq

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Transcription factor	Regulation	Reference
BRCA1	Activation	15940267

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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
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	NAS	7514601
GO:0004540	Function	RNA nuclease activity	IBA
GO:0004540	Function	RNA nuclease activity	IDA	23196181
GO:0004540	Function	RNA nuclease activity	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	7539425, 20875083
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006396	Process	RNA processing	IBA
GO:0006397	Process	MRNA processing	IEA
GO:0006468	Process	Protein phosphorylation	NAS	7514601
GO:0008270	Function	Zinc ion binding	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016363	Component	Nuclear matrix	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019843	Function	RRNA binding	IEA
GO:0042802	Function	Identical protein binding	IPI	24578532
GO:0043021	Function	Ribonucleoprotein complex binding	IEA
GO:0043488	Process	Regulation of mRNA stability	IEA
GO:0045071	Process	Negative regulation of viral genome replication	IBA
GO:0045071	Process	Negative regulation of viral genome replication	IDA	19923450, 23196181
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	19245366
GO:0046326	Process	Positive regulation of D-glucose import	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051252	Process	Regulation of RNA metabolic process	IEA
GO:0051607	Process	Defense response to virus	IBA
GO:0051607	Process	Defense response to virus	IDA	19923450, 23196181
GO:0051607	Process	Defense response to virus	IEA

MIM	HGNC	e!Ensembl
180435	10050	ENSG00000135828

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
TPLHNAVQMSREDIVELLLRHGADPVLRKKNGATPFILAAIAGSVKLLKLFLSKGADVNE
CDFYGFTAFMEAAVYGKVKALKFLYKRGANVNLRRKTKEDQERLRKGGATALMDAAEKGH
VEVLKILLDEMGADVNACDNMGRNALIHALLSSDDSDVEAITHLLLDHGADVNVRGERGK
TPLILAVEKKHLGLVQRLLEQEHIEINDTDSDGKTALLLAVELKLKKIAELLCKRGASTD
CGDLVMTARRNYDHSLVKVLLSHGAKEDFHPPAEDWKPQSSHWGAALKDLHRIYRPMIGK
LKFFIDEKYKIADTSEGGIYLGFYEKQEVAVKTFCEGSPRAQREVSCLQSSRENSHLVTF
YGSESHRGHLFVCVTLCEQTLEACLDVHRGEDVENEEDEFARNVLSSIFKAVQELHLSCG
YTHQDLQPQNILIDSKKAAHLADFDKSIKWAGDPQEVKRDLEDLGRLVLYVVKKGSISFE
DLKAQSNEEVVQLSPDEETKDLIHRLFHPGEHVRDCLSDLLGHPFFWTWESRYRTLRNVG
NESDIKTRKSESEILRLLQPGPSEHSKSFDKWTTKINECVMKKMNKFYEKRGNFYQNTVG
DLLKFIRNLGEHIDEEKHKKMKLKIGDPSLYFQKTFPDLVIYVYTKLQNTEYRKHFPQTH
SPNKPQCDGAGGASGLASPGC

Sequence length

741

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway Hepatitis C Influenza A Herpes simplex virus 1 infection		OAS antiviral response Interferon alpha/beta signaling

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ovarian cancer	Likely pathogenic	rs2102370520, rs557182938	RCV003154749 RCV003154786	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate cancer, hereditary, 1	Pathogenic	rs74315365	RCV000013879	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYNCH SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer susceptibility	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNASEL-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (83)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	32958664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29279004, 30544007, 31368019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	28257035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11941539, 18566991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15330212, 18575592, 25070080, 29422015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18575592, 25070080, 29422015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18289577		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28704535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	23057767		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22925698, 31501431, 31750234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24699816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	21665181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18575592, 21665181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	18676870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16054567, 17224235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39844333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	28654546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	16241858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24551278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial prostate cancer	Prostate Cancer	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	18676870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	24733098	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	23113544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	22356654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	23196181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	28704535	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	17224235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17224235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	11941539, 16114055, 28257035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32888207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	20576793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23196181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	23196181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	31501431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17224235		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	15330212, 18575592, 25070080, 29422015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	18676870		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22925698, 31501431, 31750234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15981205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11799394, 11941539, 12022038, 12145743, 12415269, 12590567, 12915880, 14583476, 14695991, 15040862, 15330212, 15534086, 15714208, 15824169, 16054567 View all (46 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16114055, 17020975, 27318894		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15330212, 16241858, 16944274, 18575592, 21221811, 22083266, 22202089, 24699816, 26263979, 26517238, 28654546, 31501431, 31686670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	21665181		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16537704		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28654546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28399925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16114055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	25337191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34411225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	23412934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	23113544, 9834240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11799394, 16054567, 16166078, 17224235, 18289577, 18566991, 18575592, 21190483, 22925698, 26517238, 28257035, 31750234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19760027, 25224558, 28399925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28903065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16944274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15981205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma, familial	Pancreatic carcinoma	BEFREE	15981205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	15981205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	11941539, 12022038, 12145743, 12915880, 18575592, 18767027, 20564318, 21638280, 28257035, 35655265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	11799394, 11941539, 12022038, 12145743, 12415269, 12590567, 12915880, 14583476, 15040862, 15535435, 15604285, 15981205, 16054567, 16241858, 16267836 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, familial	Prostate cancer	ORPHANET_DG	23141781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, familial	Prostate cancer	GENOMICS_ENGLAND_DG	28031937		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer, familial	Prostate cancer	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prostate carcinoma	Prostate cancer	BEFREE	11799394, 11941539, 12022038, 12145743, 12415269, 12590567, 12915880, 14583476, 14695991, 15040862, 15045584, 15330212, 15534086, 15714208, 15824169 View all (46 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	11941539, 12022038, 12145743, 12415269, 12590567, 12653398, 12915880, 14695991, 15330212, 16114055, 16203993, 16869093, 17020975, 17234723, 17400356, 17908993, 18189233, 18767027 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11941539, 12022038, 12145743, 12915880, 15330212, 16203993, 16609730, 17145707, 18289577, 18575592, 18767027, 19959199, 20086112, 20564318, 20576103 View all (12 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16114055, 17020975, 27318894		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	16609730, 19835577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reticulosarcoma	Reticulosarcoma	BEFREE	16241858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	28003490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	24699816, 28654546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24699816	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24699816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18575592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39290696	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18575592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	25550087		★★★★★ ★☆☆☆☆ Found in Text Mining only

RNASEL (ribonuclease L)