RANBP2 (RAN binding protein 2)

Gene

• Entrez ID: 5903
• Gene name: RAN binding protein 2
• Gene symbol: RANBP2
• Synonyms (NCBI Gene): ADANE, ANE1, IIAE3, NUP358, TRP1, TRP2
• Disease Acronyms (UniProt): IIAE3
• Chromosome: 2
• Chromosome location: 2q13
• Summary: RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434502	C>T	Pathogenic	Coding sequence variant, missense variant
rs121434503	C>T	Pathogenic, risk-factor	Coding sequence variant, missense variant
rs121434504	A>G	Pathogenic	Coding sequence variant, missense variant
rs138022657	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs138540027	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs140280672	C>A,T	Benign, likely-benign, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs142768885	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, intron variant
rs144573168	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148596328	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs1060499624	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1131691596	G>A	Likely-pathogenic	3 prime UTR variant, intron variant, genic downstream transcript variant, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052536	hsa-let-7a-5p	CLASH	23622248
MIRT051582	hsa-let-7e-5p	CLASH	23622248
MIRT049119	hsa-miR-92a-3p	CLASH	23622248
MIRT049119	hsa-miR-92a-3p	CLASH	23622248
MIRT046567	hsa-let-7g-5p	CLASH	23622248
MIRT046041	hsa-miR-125b-5p	CLASH	23622248
MIRT045244	hsa-miR-186-5p	CLASH	23622248
MIRT042469	hsa-miR-423-3p	CLASH	23622248
MIRT039354	hsa-miR-421	CLASH	23622248
MIRT038578	hsa-miR-106b-3p	CLASH	23622248
MIRT037743	hsa-miR-708-5p	CLASH	23622248
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711398	hsa-miR-4501	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711395	hsa-miR-4504	HITS-CLIP	19536157
MIRT711394	hsa-miR-542-3p	HITS-CLIP	19536157
MIRT654487	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT654486	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT654485	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT654484	hsa-miR-1470	HITS-CLIP	23824327
MIRT654483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT654481	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT654482	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT654479	hsa-miR-4439	HITS-CLIP	23824327
MIRT654480	hsa-miR-943	HITS-CLIP	23824327
MIRT654478	hsa-miR-4311	HITS-CLIP	23824327
MIRT654477	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT654476	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT654475	hsa-miR-3973	HITS-CLIP	23824327
MIRT654474	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT654473	hsa-miR-520h	HITS-CLIP	23824327
MIRT654472	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT654471	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT654470	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT654469	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT654468	hsa-miR-1200	HITS-CLIP	23824327
MIRT654467	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT654466	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711401	hsa-miR-548u	HITS-CLIP	19536157
MIRT711400	hsa-miR-7161-5p	HITS-CLIP	19536157
MIRT711399	hsa-miR-8087	HITS-CLIP	19536157
MIRT711398	hsa-miR-4501	HITS-CLIP	19536157
MIRT711397	hsa-miR-642a-3p	HITS-CLIP	19536157
MIRT711396	hsa-miR-642b-3p	HITS-CLIP	19536157
MIRT711395	hsa-miR-4504	HITS-CLIP	19536157
MIRT711394	hsa-miR-542-3p	HITS-CLIP	19536157
MIRT654487	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT654486	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT654485	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT654484	hsa-miR-1470	HITS-CLIP	23824327
MIRT654483	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT654481	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT654482	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT654479	hsa-miR-4439	HITS-CLIP	23824327
MIRT654480	hsa-miR-943	HITS-CLIP	23824327
MIRT654478	hsa-miR-4311	HITS-CLIP	23824327
MIRT654477	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT654476	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT654475	hsa-miR-3973	HITS-CLIP	23824327
MIRT654474	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT654473	hsa-miR-520h	HITS-CLIP	23824327
MIRT654472	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT654471	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT654470	hsa-miR-539-5p	HITS-CLIP	23824327
MIRT654469	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT654468	hsa-miR-1200	HITS-CLIP	23824327
MIRT654467	hsa-miR-3074-5p	HITS-CLIP	23824327
MIRT654466	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT1289515	hsa-let-7a	CLIP-seq
MIRT1289516	hsa-let-7b	CLIP-seq
MIRT1289517	hsa-let-7c	CLIP-seq
MIRT1289518	hsa-let-7d	CLIP-seq
MIRT1289519	hsa-let-7e	CLIP-seq
MIRT1289520	hsa-let-7f	CLIP-seq
MIRT1289521	hsa-let-7g	CLIP-seq
MIRT1289522	hsa-let-7i	CLIP-seq
MIRT1289523	hsa-miR-1207-3p	CLIP-seq
MIRT1289524	hsa-miR-1245b-3p	CLIP-seq
MIRT1289525	hsa-miR-1279	CLIP-seq
MIRT1289526	hsa-miR-129-5p	CLIP-seq
MIRT1289527	hsa-miR-1304	CLIP-seq
MIRT1289528	hsa-miR-137	CLIP-seq
MIRT1289529	hsa-miR-153	CLIP-seq
MIRT1289530	hsa-miR-196a	CLIP-seq
MIRT1289531	hsa-miR-196b	CLIP-seq
MIRT1289532	hsa-miR-202	CLIP-seq
MIRT1289533	hsa-miR-203	CLIP-seq
MIRT1289534	hsa-miR-205	CLIP-seq
MIRT1289535	hsa-miR-217	CLIP-seq
MIRT1289536	hsa-miR-219-2-3p	CLIP-seq
MIRT1289537	hsa-miR-223	CLIP-seq
MIRT1289538	hsa-miR-300	CLIP-seq
MIRT1289539	hsa-miR-3074-3p	CLIP-seq
MIRT1289540	hsa-miR-30a	CLIP-seq
MIRT1289541	hsa-miR-30b	CLIP-seq
MIRT1289542	hsa-miR-30c	CLIP-seq
MIRT1289543	hsa-miR-30d	CLIP-seq
MIRT1289544	hsa-miR-30e	CLIP-seq
MIRT1289545	hsa-miR-3140-3p	CLIP-seq
MIRT1289546	hsa-miR-3591-5p	CLIP-seq
MIRT1289547	hsa-miR-3662	CLIP-seq
MIRT1289548	hsa-miR-380	CLIP-seq
MIRT1289549	hsa-miR-381	CLIP-seq
MIRT1289550	hsa-miR-3910	CLIP-seq
MIRT1289551	hsa-miR-411	CLIP-seq
MIRT1289552	hsa-miR-4280	CLIP-seq
MIRT1289553	hsa-miR-4282	CLIP-seq
MIRT1289554	hsa-miR-4303	CLIP-seq
MIRT1289555	hsa-miR-4328	CLIP-seq
MIRT1289556	hsa-miR-4418	CLIP-seq
MIRT1289557	hsa-miR-4458	CLIP-seq
MIRT1289558	hsa-miR-4461	CLIP-seq
MIRT1289559	hsa-miR-448	CLIP-seq
MIRT1289560	hsa-miR-4495	CLIP-seq
MIRT1289561	hsa-miR-4500	CLIP-seq
MIRT1289562	hsa-miR-4511	CLIP-seq
MIRT1289563	hsa-miR-4649-3p	CLIP-seq
MIRT1289564	hsa-miR-4668-3p	CLIP-seq
MIRT1289565	hsa-miR-4697-3p	CLIP-seq
MIRT1289566	hsa-miR-4717-5p	CLIP-seq
MIRT1289567	hsa-miR-4762-3p	CLIP-seq
MIRT1289568	hsa-miR-4764-5p	CLIP-seq
MIRT1289569	hsa-miR-4772-3p	CLIP-seq
MIRT1289570	hsa-miR-4799-5p	CLIP-seq
MIRT1289571	hsa-miR-487a	CLIP-seq
MIRT1289572	hsa-miR-494	CLIP-seq
MIRT1289573	hsa-miR-499-3p	CLIP-seq
MIRT1289574	hsa-miR-499a-3p	CLIP-seq
MIRT1289575	hsa-miR-509-3-5p	CLIP-seq
MIRT1289576	hsa-miR-509-5p	CLIP-seq
MIRT1289577	hsa-miR-544	CLIP-seq
MIRT1289578	hsa-miR-548b-3p	CLIP-seq
MIRT1289579	hsa-miR-548m	CLIP-seq
MIRT1289580	hsa-miR-561	CLIP-seq
MIRT1289581	hsa-miR-568	CLIP-seq
MIRT1289582	hsa-miR-603	CLIP-seq
MIRT1289583	hsa-miR-616	CLIP-seq
MIRT1289584	hsa-miR-643	CLIP-seq
MIRT1289585	hsa-miR-760	CLIP-seq
MIRT1289586	hsa-miR-98	CLIP-seq
MIRT1552939	hsa-miR-1228	CLIP-seq
MIRT1552940	hsa-miR-377	CLIP-seq
MIRT1552941	hsa-miR-3974	CLIP-seq
MIRT1552942	hsa-miR-4275	CLIP-seq
MIRT1552943	hsa-miR-4708-3p	CLIP-seq
MIRT1552939	hsa-miR-1228	CLIP-seq
MIRT1289527	hsa-miR-1304	CLIP-seq
MIRT1289528	hsa-miR-137	CLIP-seq
MIRT2086021	hsa-miR-3145-3p	CLIP-seq
MIRT2086022	hsa-miR-3673	CLIP-seq
MIRT1552940	hsa-miR-377	CLIP-seq
MIRT1552941	hsa-miR-3974	CLIP-seq
MIRT1552942	hsa-miR-4275	CLIP-seq
MIRT2086023	hsa-miR-4474-3p	CLIP-seq
MIRT2086024	hsa-miR-4503	CLIP-seq
MIRT1289564	hsa-miR-4668-3p	CLIP-seq
MIRT1552943	hsa-miR-4708-3p	CLIP-seq
MIRT2086025	hsa-miR-590-3p	CLIP-seq
MIRT2086026	hsa-miR-607	CLIP-seq
MIRT2086027	hsa-miR-9	CLIP-seq
MIRT2311230	hsa-miR-105	CLIP-seq
MIRT1289523	hsa-miR-1207-3p	CLIP-seq
MIRT1552939	hsa-miR-1228	CLIP-seq
MIRT1289525	hsa-miR-1279	CLIP-seq
MIRT1289527	hsa-miR-1304	CLIP-seq
MIRT1289528	hsa-miR-137	CLIP-seq
MIRT1289533	hsa-miR-203	CLIP-seq
MIRT2311231	hsa-miR-204	CLIP-seq
MIRT2311232	hsa-miR-211	CLIP-seq
MIRT1289537	hsa-miR-223	CLIP-seq
MIRT1289540	hsa-miR-30a	CLIP-seq
MIRT1289541	hsa-miR-30b	CLIP-seq
MIRT1289542	hsa-miR-30c	CLIP-seq
MIRT1289543	hsa-miR-30d	CLIP-seq
MIRT1289544	hsa-miR-30e	CLIP-seq
MIRT2311233	hsa-miR-3133	CLIP-seq
MIRT1289545	hsa-miR-3140-3p	CLIP-seq
MIRT2311234	hsa-miR-320e	CLIP-seq
MIRT1289546	hsa-miR-3591-5p	CLIP-seq
MIRT1289547	hsa-miR-3662	CLIP-seq
MIRT2311235	hsa-miR-3671	CLIP-seq
MIRT2311236	hsa-miR-3691-3p	CLIP-seq
MIRT2311237	hsa-miR-374c	CLIP-seq
MIRT1552940	hsa-miR-377	CLIP-seq
MIRT1289548	hsa-miR-380	CLIP-seq
MIRT2311238	hsa-miR-382	CLIP-seq
MIRT1289550	hsa-miR-3910	CLIP-seq
MIRT1552941	hsa-miR-3974	CLIP-seq
MIRT2311239	hsa-miR-4272	CLIP-seq
MIRT1552942	hsa-miR-4275	CLIP-seq
MIRT1289552	hsa-miR-4280	CLIP-seq
MIRT2311240	hsa-miR-4281	CLIP-seq
MIRT1289555	hsa-miR-4328	CLIP-seq
MIRT2311241	hsa-miR-4433	CLIP-seq
MIRT2311242	hsa-miR-4459	CLIP-seq
MIRT2311243	hsa-miR-4464	CLIP-seq
MIRT1289560	hsa-miR-4495	CLIP-seq
MIRT2311244	hsa-miR-4499	CLIP-seq
MIRT2311245	hsa-miR-4666-5p	CLIP-seq
MIRT1552943	hsa-miR-4708-3p	CLIP-seq
MIRT2311246	hsa-miR-4724-5p	CLIP-seq
MIRT2311247	hsa-miR-4748	CLIP-seq
MIRT2311248	hsa-miR-4768-3p	CLIP-seq
MIRT2311249	hsa-miR-4795-3p	CLIP-seq
MIRT2311250	hsa-miR-4803	CLIP-seq
MIRT1289573	hsa-miR-499-3p	CLIP-seq
MIRT1289574	hsa-miR-499a-3p	CLIP-seq
MIRT2311251	hsa-miR-5096	CLIP-seq
MIRT2311252	hsa-miR-520g	CLIP-seq
MIRT2311253	hsa-miR-522	CLIP-seq
MIRT2311254	hsa-miR-539	CLIP-seq
MIRT2311255	hsa-miR-549	CLIP-seq
MIRT1289580	hsa-miR-561	CLIP-seq
MIRT2086025	hsa-miR-590-3p	CLIP-seq
MIRT2311256	hsa-miR-598	CLIP-seq
MIRT1289582	hsa-miR-603	CLIP-seq
MIRT2086026	hsa-miR-607	CLIP-seq
MIRT1289583	hsa-miR-616	CLIP-seq
MIRT2311257	hsa-miR-642b	CLIP-seq
MIRT2311258	hsa-miR-651	CLIP-seq
MIRT2311259	hsa-miR-655	CLIP-seq
MIRT2311260	hsa-miR-656	CLIP-seq
MIRT2086027	hsa-miR-9	CLIP-seq
MIRT2311261	hsa-miR-935	CLIP-seq
MIRT2393466	hsa-miR-1293	CLIP-seq
MIRT2393467	hsa-miR-3190	CLIP-seq
MIRT1289555	hsa-miR-4328	CLIP-seq
MIRT2393468	hsa-miR-4483	CLIP-seq
MIRT2393469	hsa-miR-7	CLIP-seq
MIRT2607579	hsa-miR-1	CLIP-seq
MIRT2607580	hsa-miR-1273g	CLIP-seq
MIRT2607581	hsa-miR-1297	CLIP-seq
MIRT2607582	hsa-miR-1305	CLIP-seq
MIRT2607583	hsa-miR-133a	CLIP-seq
MIRT2607584	hsa-miR-133b	CLIP-seq
MIRT2607585	hsa-miR-149	CLIP-seq
MIRT2607586	hsa-miR-206	CLIP-seq
MIRT1289537	hsa-miR-223	CLIP-seq
MIRT2607587	hsa-miR-26a	CLIP-seq
MIRT2607588	hsa-miR-26b	CLIP-seq
MIRT2607589	hsa-miR-3064-3p	CLIP-seq
MIRT2607590	hsa-miR-3064-5p	CLIP-seq
MIRT2607591	hsa-miR-3119	CLIP-seq
MIRT2607592	hsa-miR-3126-3p	CLIP-seq
MIRT2607593	hsa-miR-3198	CLIP-seq
MIRT2607594	hsa-miR-320a	CLIP-seq
MIRT2607595	hsa-miR-320b	CLIP-seq
MIRT2607596	hsa-miR-320c	CLIP-seq
MIRT2607597	hsa-miR-320d	CLIP-seq
MIRT2311234	hsa-miR-320e	CLIP-seq
MIRT2607598	hsa-miR-323-5p	CLIP-seq
MIRT2607599	hsa-miR-3610	CLIP-seq
MIRT2086022	hsa-miR-3673	CLIP-seq
MIRT2607600	hsa-miR-4309	CLIP-seq
MIRT1289555	hsa-miR-4328	CLIP-seq
MIRT2607601	hsa-miR-4429	CLIP-seq
MIRT2607602	hsa-miR-4456	CLIP-seq
MIRT2311243	hsa-miR-4464	CLIP-seq
MIRT2607603	hsa-miR-4465	CLIP-seq
MIRT2086023	hsa-miR-4474-3p	CLIP-seq
MIRT2086024	hsa-miR-4503	CLIP-seq
MIRT2607604	hsa-miR-4509	CLIP-seq
MIRT2311245	hsa-miR-4666-5p	CLIP-seq
MIRT2607605	hsa-miR-4668-5p	CLIP-seq
MIRT2607606	hsa-miR-4681	CLIP-seq
MIRT2311247	hsa-miR-4748	CLIP-seq
MIRT2607607	hsa-miR-4775	CLIP-seq
MIRT2607608	hsa-miR-4790-3p	CLIP-seq
MIRT2607609	hsa-miR-4794	CLIP-seq
MIRT2311250	hsa-miR-4803	CLIP-seq
MIRT1289572	hsa-miR-494	CLIP-seq
MIRT2607610	hsa-miR-498	CLIP-seq
MIRT2311252	hsa-miR-520g	CLIP-seq
MIRT2311255	hsa-miR-549	CLIP-seq
MIRT1289580	hsa-miR-561	CLIP-seq
MIRT2607611	hsa-miR-563	CLIP-seq
MIRT2086025	hsa-miR-590-3p	CLIP-seq
MIRT2086026	hsa-miR-607	CLIP-seq
MIRT2607612	hsa-miR-613	CLIP-seq
MIRT1289583	hsa-miR-616	CLIP-seq
MIRT2311257	hsa-miR-642b	CLIP-seq
MIRT2311258	hsa-miR-651	CLIP-seq
MIRT2607613	hsa-miR-663b	CLIP-seq
MIRT2607614	hsa-miR-876-3p	CLIP-seq
MIRT2086027	hsa-miR-9	CLIP-seq
MIRT2311261	hsa-miR-935	CLIP-seq
MIRT2607580	hsa-miR-1273g	CLIP-seq
MIRT2607582	hsa-miR-1305	CLIP-seq
MIRT2607594	hsa-miR-320a	CLIP-seq
MIRT2607595	hsa-miR-320b	CLIP-seq
MIRT2607596	hsa-miR-320c	CLIP-seq
MIRT2607597	hsa-miR-320d	CLIP-seq
MIRT2311234	hsa-miR-320e	CLIP-seq
MIRT2607598	hsa-miR-323-5p	CLIP-seq
MIRT2607599	hsa-miR-3610	CLIP-seq
MIRT2086022	hsa-miR-3673	CLIP-seq
MIRT2607601	hsa-miR-4429	CLIP-seq
MIRT2607602	hsa-miR-4456	CLIP-seq
MIRT2311250	hsa-miR-4803	CLIP-seq
MIRT2311255	hsa-miR-549	CLIP-seq
MIRT2607611	hsa-miR-563	CLIP-seq
MIRT2086025	hsa-miR-590-3p	CLIP-seq
MIRT2086026	hsa-miR-607	CLIP-seq
MIRT2607614	hsa-miR-876-3p	CLIP-seq
MIRT2311261	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000413	Process	Protein peptidyl-prolyl isomerization	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0003723	Function	RNA binding	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IDA	20676357
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	10078529, 14729961, 16204249, 16314522, 16332688, 20386726, 20936779, 21988832, 22155184, 22194619, 23414517, 24855949, 26272610, 26496610, 28514442
GO:0005635	Component	Nuclear envelope	IDA	20386726, 25294810
GO:0005635	Component	Nuclear envelope	TAS
GO:0005642	Component	Annulate lamellae	IDA	20386726
GO:0005643	Component	Nuclear pore	IBA	21873635
GO:0005643	Component	Nuclear pore	IDA	17098863, 20386726
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	TAS
GO:0006111	Process	Regulation of gluconeogenesis	IEA
GO:0006406	Process	MRNA export from nucleus	TAS
GO:0006409	Process	TRNA export from nucleus	TAS
GO:0006457	Process	Protein folding	IEA
GO:0006607	Process	NLS-bearing protein import into nucleus	IBA	21873635
GO:0006607	Process	NLS-bearing protein import into nucleus	IMP	7603572
GO:0016018	Function	Cyclosporin A binding	IDA	20676357
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	TAS
GO:0016925	Process	Protein sumoylation	IDA	17264123, 22155184
GO:0016925	Process	Protein sumoylation	IEA
GO:0016925	Process	Protein sumoylation	TAS
GO:0019083	Process	Viral transcription	TAS
GO:0019789	Function	SUMO transferase activity	EXP	11792325, 15378033, 15608651, 16688858
GO:0031267	Function	Small GTPase binding	IPI	7603572
GO:0031965	Component	Nuclear membrane	IDA	11839768
GO:0033133	Process	Positive regulation of glucokinase activity	IEA
GO:0042405	Component	Nuclear inclusion body	IDA	11839768
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0043657	Component	Host cell	IEA
GO:0044614	Component	Nuclear pore cytoplasmic filaments	IDA	7603572
GO:0044615	Component	Nuclear pore nuclear basket	IDA	11839768
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051642	Process	Centrosome localization	IMP	20386726
GO:0060964	Process	Regulation of gene silencing by miRNA	TAS
GO:0075733	Process	Intracellular transport of virus	TAS
GO:1900034	Process	Regulation of cellular response to heat	TAS
GO:1990723	Component	Cytoplasmic periphery of the nuclear pore complex	IEA

Other IDs

• MIM: 601181
• HGNC: 9848
• e!Ensembl: ENSG00000153201

Protein

• UniProt ID: P49792
• Protein name: E3 SUMO-protein ligase RanBP2 (EC 2.3.2.-) (358 kDa nucleoporin) (Nuclear pore complex protein Nup358) (Nucleoporin Nup358) (Ran-binding protein 2) (RanBP2) (p270)
• Protein function: E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I (PubMed:11792325, PubMed:12032081, PubMed:15378033, PubMed:15931224, PubMed:22194619). Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via
• PDB: 1RRP, 1XKE, 1Z5S, 2LAS, 3UIN, 3UIO, 3UIP, 4GA0, 4I9Y, 4L6E, 4LQW, 5CLL, 5CLQ, 7MNJ, 7MNK, 7MNL, 7MNM, 7MNN, 7MNO, 7MNP, 7MNQ, 7MNR, 7MNS, 7MNT, 7MNU, 7MNV, 7MNW, 7MNX, 7MNY, 7MNZ, 7R5J, 7R5K, 9B62
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00638	Ran_BP1	1183 → 1304	RanBP1 domain	Domain
  PF00641	zf-RanBP	1351 → 1381	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1415 → 1444	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1479 → 1508	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1543 → 1572	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1606 → 1635	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1665 → 1694	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1724 → 1753	Zn-finger in Ran binding protein and others	Domain
  PF00641	zf-RanBP	1781 → 1810	Zn-finger in Ran binding protein and others	Domain
  PF00638	Ran_BP1	2024 → 2145	RanBP1 domain	Domain
  PF00638	Ran_BP1	2321 → 2442	RanBP1 domain	Domain
  PF12185	IR1-M	2631 → 2693	Nup358/RanBP2 E3 ligase domain	Domain
  PF12185	IR1-M	2709 → 2769	Nup358/RanBP2 E3 ligase domain	Domain
  PF00638	Ran_BP1	2922 → 3043	RanBP1 domain	Domain
  PF00160	Pro_isomerase	3067 → 3223	Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD	Domain

• Sequence:

  MRRSKADVERYIASVQGSTPSPRQKSMKGFYFAKLYYEAKEYDLAKKYICTYINVQERDP
  KAHRFLGLLYELEENTDKAVECYRRSVELNPTQKDLVLKIAELLCKNDVTDGRAKYWLER
  AAKLFPGSPAIYKLKEQLLDCEGEDGWNKLFDLIQSELYVRPDDVHVNIRLVEVYRSTKR
  LKDAVAHCHEAERNIALRSSLEWNSCVVQTLKEYLESLQCLESDKSDWRATNTDLLLAYA
  NLMLLTLSTRDVQESRELLQSFDSALQSVKSLGGNDELSATFLEMKGHFYMHAGSLLLKM
  GQHSSNVQWRALSELAALCYLIAFQVPRPKIKLIKGEAGQNLLEMMACDRLSQSGHMLLN
  LSRGKQDFLKEIVETFANKSGQSALYDALFSSQSPKDTSFLGSDDIGNIDVREPELEDLT
  RYDVGAIRAHNGSLQHLTWLGLQWNSLPALPGIRKWLKQLFHHLPHETSRLETNAPESIC
  ILDLEVFLLGVVYTSHLQLKEKCNSHHSSYQPLCLPLPVCKQLCTERQKSWWDAVCTLIH
  RKAVPGNVAKLRLLVQHEINTLRAQEKHGLQPALLVHWAECLQKTGSGLNSFYDQREYIG
  RSVHYWKKVLPLLKIIKKKNSIPEPIDPLFKHFHSVDIQASEIVEYEEDAHITFAILDAV
  NGNIEDAVTAFESIKSVVSYWNLALIFHRKAEDIENDALSPEEQEECKNYLRKTRDYLIK
  IIDDSDSNLSVVKKLPVPLESVKEMLNSVMQELEDYSEGGPLYKNGSLRNADSEIKHSTP
  SPTRYSLSPSKSYKYSPKTPPRWAEDQNSLLKMICQQVEAIKKEMQELKLNSSNSASPHR
  WPTENYGPDSVPDGYQGSQTFHGAPLTVATTGPSVYYSQSPAYNSQYLLRPAANVTPTKG
  PVYGMNRLPPQQHIYAYPQQMHTPPVQSSSACMFSQEMYGPPALRFESPATGILSPRGDD
  YFNYNVQQTSTNPPLPEPGYFTKPPIAAHASRSAESKTIEFGKTNFVQPMPGEGLRPSLP
  TQAHTTQPTPFKFNSNFKSNDGDFTFSSPQVVTQPPPAAYSNSESLLGLLTSDKPLQGDG
  YSGAKPIPGGQTIGPRNTFNFGSKNVSGISFTENMGSSQQKNSGFRRSDDMFTFHGPGKS
  VFGTPTLETANKNHETDGGSAHGDDDDDGPHFEPVVPLPDKIEVKTGEEDEEEFFCNRAK
  LFRFDVESKEWKERGIGNVKILRHKTSGKIRLLMRREQVLKICANHYISPDMKLTPNAGS
  DRSFVWHALDYADELPKPEQLAIRFKTPEEAALFKCKFEEAQSILKAPGTNVAMASNQAV
  RIVKEPTSHDNKDICKSDAGNLNFEFQVAKKEGSWWHCNSCSLKNASTAKKCVSCQNLNP
  SNKELVGPPLAETVFTPKTSPENVQDRFALVTPKKEGHWDCSICLVRNEPTVSRCIACQN
  TKSANKSGSSFVHQASFKFGQGDLPKPINSDFRSVFSTKEGQWDCSACLVQNEGSSTKCA
  ACQNPRKQSLPATSIPTPASFKFGTSETSKTLKSGFEDMFAKKEGQWDCSSCLVRNEANA
  TRCVACQNPDKPSPSTSVPAPASFKFGTSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNE
  ASATKCIACQNPGKQNQTTSAVSTPASSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNEA
  SATKCIACQNPGKQNQTTSAVSTPASSETSKAPKSGFEGMFTKKEGQWDCSVCLVRNEAS
  ATKCIACQCPSKQNQTTAISTPASSEISKAPKSGFEGMFIRKGQWDCSVCCVQNESSSLK
  CVACDASKPTHKPIAEAPSAFTLGSEMKLHDSSGSQVGTGFKSNFSEKASKFGNTEQGFK
  FGHVDQENSPSFMFQGSSNTEFKSTKEGFSIPVSADGFKFGISEPGNQEKKSEKPLENGT
  GFQAQDISGQKNGRGVIFGQTSSTFTFADLAKSTSGEGFQFGKKDPNFKGFSGAGEKLFS
  SQYGKMANKANTSGDFEKDDDAYKTEDSDDIHFEPVVQMPEKVELVTGEEDEKVLYSQRV
  KLFRFDAEVSQWKERGLGNLKILKNEVNGKLRMLMRREQVLKVCANHWITTTMNLKPLSG
  SDRAWMWLASDFSDGDAKLEQLAAKFKTPELAEEFKQKFEECQRLLLDIPLQTPHKLVDT
  GRAAKLIQRAEEMKSGLKDFKTFLTNDQTKVTEEENKGSGTGAAGASDTTIKPNPENTGP
  TLEWDNYDLREDALDDSVSSSSVHASPLASSPVRKNLFRFGESTTGFNFSFKSALSPSKS
  PAKLNQSGTSVGTDEESDVTQEEERDGQYFEPVVPLPDLVEVSSGEENEQVVFSHRAKLY
  RYDKDVGQWKERGIGDIKILQNYDNKQVRIVMRRDQVLKLCANHRITPDMTLQNMKGTER
  VWLWTACDFADGERKVEHLAVRFKLQDVADSFKKIFDEAKTAQEKDSLITPHVSRSSTPR
  ESPCGKIAVAVLEETTRERTDVIQGDDVADATSEVEVSSTSETTPKAVVSPPKFVFGSES
  VKSIFSSEKSKPFAFGNSSATGSLFGFSFNAPLKSNNSETSSVAQSGSESKVEPKKCELS
  KNSDIEQSSDSKVKNLFASFPTEESSINYTFKTPEKAKEKKKPEDSPSDDDVLIVYELTP
  TAEQKALATKLKLPPTFFCYKNRPDYVSEEEEDDEDFETAVKKLNGKLYLDGSEKCRPLE
  ENTADNEKECIIVWEKKPTVEEKAKADTLKLPPTFFCGVCSDTDEDNGNGEDFQSELQKV
  QEAQKSQTEEITSTTDSVYTGGTEVMVPSFCKSEEPDSITKSISSPSVSSETMDKPVDLS
  TRKEIDTDSTSQGESKIVSFGFGSSTGLSFADLASSNSGDFAFGSKDKNFQWANTGAAVF
  GTQSVGTQSAGKVGEDEDGSDEEVVHNEDIHFEPIVSLPEVEVKSGEEDEEILFKERAKL
  YRWDRDVSQWKERGVGDIKILWHTMKNYYRILMRRDQVFKVCANHVITKTMELKPLNVSN
  NALVWTASDYADGEAKVEQLAVRFKTKEVADCFKKTFEECQQNLMKLQKGHVSLAAELSK
  ETNPVVFFDVCADGEPLGRITMELFSNIVPRTAENFRALCTGEKGFGFKNSIFHRVIPDF
  VCQGGDITKHDGTGGQSIYGDKFEDENFDVKHTGPGLLSMANQGQNTNNSQFVITLKKAE
  HLDFKHVVFGFVKDGMDTVKKIESFGSPKGSVCRRITITECGQI

• Sequence length: 3224

Pathways

KEGG:

Nucleocytoplasmic transport
Viral life cycle - HIV-1
Amyotrophic lateral sclerosis

Reactome:

ISG15 antiviral mechanism
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
RHO GTPases Activate Formins
tRNA processing in the nucleus
Mitotic Prometaphase
HCMV Early Events
HCMV Late Events
EML4 and NUDC in mitotic spindle formation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental regression	Developmental regression	rs1224421127
Encephalopathy	Acute encephalopathy	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Necrotizing encephalopathy	Acute necrotizing encephalopathy of childhood, Familial acute necrotizing encephalopathy	rs121434502, rs1060499624	19807769

Unknown
Disease term	Disease name	Evidence	References	Source
Leigh Syndrome	Leigh syndrome			GenCC
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Febrile Encephalopathy	Associate	25342191, 32928829, 34693523
Appendiceal Neoplasms	Associate	32357859
Ataxia	Associate	36572756
Brain Diseases	Associate	34593382, 36572756, 36930595
Brain Edema	Associate	33761695
Breast Neoplasms	Associate	35732329
Carcinogenesis	Associate	29706609
Cardiomyopathies	Associate	25137373
Cardiomyopathy Dilated	Associate	25137373
Central Nervous System Vascular Malformations	Associate	36930595
Cholangiocarcinoma	Associate	28882106
Colorectal Neoplasms	Associate	27203373
Coma	Associate	35485383, 35870896
COVID 19	Associate	35870896
Death	Associate	36572756
Diabetes Gestational	Associate	33085184
Encephalitis	Associate	29741717
Encephalomyelitis Acute Disseminated	Associate	34693523
Gestational Trophoblastic Disease	Associate	31998776
Hemiplegia	Associate	36572756
Hereditary leiomyomatosis and renal cell cancer	Associate	32191807
HIV Infections	Associate	21179483
Infections	Associate	19118815
Leukemia Myelomonocytic Juvenile	Associate	29437595
Liver Failure Acute	Associate	35870896
Melanoma	Associate	35688970
Myelitis Transverse	Associate	23329376
Neoplasms	Associate	21030459, 28882106, 32357859
Neuritis	Associate	19811512
Neuroblastoma	Associate	29706609
Pre Eclampsia	Associate	36421809
Quadriplegia	Associate	23329376
Sarcoma	Associate	26139079
Seizures	Associate	33761695
Uterine Cervical Neoplasms	Associate	30678687
Virus Diseases	Associate	35485383