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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	89910
Gene name	Ubiquitin protein ligase E3B
Gene symbol	UBE3B
Synonyms (NCBI Gene)	BPIDSKOS
Chromosome	12
Chromosome location	12q24.11
Summary	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjuga

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SNP ID	Visualize variation	Clinical significance	Consequence
rs202144137	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant, missense variant, coding sequence variant
rs398123020	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398123021	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs398123022	A>G	Pathogenic	Splice acceptor variant
rs398123023	A>C	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs539407162	G>A,C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs672601304	A>G	Pathogenic	Initiator codon variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs672601305	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs746058354	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs750360032	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs754032570	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs765785230	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs771222229	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs775981553	G>T	Pathogenic	Stop gained, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs786205621	CTC>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs886041886	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1304422857	G>A,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1409120511	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555269815	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs1592882265	T>G	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1592972259	->A	Likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, frameshift variant

323

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028096	hsa-miR-93-5p	Sequencing	20371350
MIRT046488	hsa-miR-15b-5p	CLASH	23622248
MIRT042897	hsa-miR-324-3p	CLASH	23622248
MIRT038562	hsa-miR-106b-3p	CLASH	23622248
MIRT036735	hsa-miR-760	CLASH	23622248
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT1469376	hsa-miR-1257	CLIP-seq
MIRT1469377	hsa-miR-1303	CLIP-seq
MIRT1469378	hsa-miR-130a	CLIP-seq
MIRT1469379	hsa-miR-130b	CLIP-seq
MIRT1469380	hsa-miR-2110	CLIP-seq
MIRT1469381	hsa-miR-301a	CLIP-seq
MIRT1469382	hsa-miR-301b	CLIP-seq
MIRT1469383	hsa-miR-3150a-3p	CLIP-seq
MIRT1469384	hsa-miR-3180-5p	CLIP-seq
MIRT1469385	hsa-miR-335	CLIP-seq
MIRT1469386	hsa-miR-3591-3p	CLIP-seq
MIRT1469387	hsa-miR-3666	CLIP-seq
MIRT1469388	hsa-miR-3714	CLIP-seq
MIRT1469389	hsa-miR-3942-3p	CLIP-seq
MIRT1469390	hsa-miR-4260	CLIP-seq
MIRT1469391	hsa-miR-4267	CLIP-seq
MIRT1469392	hsa-miR-4276	CLIP-seq
MIRT1469393	hsa-miR-4295	CLIP-seq
MIRT1469394	hsa-miR-4302	CLIP-seq
MIRT1469395	hsa-miR-4428	CLIP-seq
MIRT1469396	hsa-miR-454	CLIP-seq
MIRT1469397	hsa-miR-4671-3p	CLIP-seq
MIRT1469398	hsa-miR-4690-5p	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT1469403	hsa-miR-520d-5p	CLIP-seq
MIRT1469404	hsa-miR-524-5p	CLIP-seq
MIRT1469405	hsa-miR-548an	CLIP-seq
MIRT1469406	hsa-miR-935	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT1469378	hsa-miR-130a	CLIP-seq
MIRT1469379	hsa-miR-130b	CLIP-seq
MIRT1469407	hsa-miR-148a	CLIP-seq
MIRT1469408	hsa-miR-148b	CLIP-seq
MIRT1469409	hsa-miR-152	CLIP-seq
MIRT1469410	hsa-miR-223	CLIP-seq
MIRT1469381	hsa-miR-301a	CLIP-seq
MIRT1469382	hsa-miR-301b	CLIP-seq
MIRT1469384	hsa-miR-3180-5p	CLIP-seq
MIRT1469387	hsa-miR-3666	CLIP-seq
MIRT1469388	hsa-miR-3714	CLIP-seq
MIRT1469411	hsa-miR-3922-5p	CLIP-seq
MIRT1469389	hsa-miR-3942-3p	CLIP-seq
MIRT1469391	hsa-miR-4267	CLIP-seq
MIRT1469392	hsa-miR-4276	CLIP-seq
MIRT1469393	hsa-miR-4295	CLIP-seq
MIRT1469394	hsa-miR-4302	CLIP-seq
MIRT1469395	hsa-miR-4428	CLIP-seq
MIRT1469412	hsa-miR-4455	CLIP-seq
MIRT1469396	hsa-miR-454	CLIP-seq
MIRT1469397	hsa-miR-4671-3p	CLIP-seq
MIRT1469413	hsa-miR-4697-3p	CLIP-seq
MIRT1469414	hsa-miR-4722-5p	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT1469415	hsa-miR-503	CLIP-seq
MIRT1469416	hsa-miR-891a	CLIP-seq
MIRT1469417	hsa-miR-940	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT1469392	hsa-miR-4276	CLIP-seq
MIRT2141050	hsa-miR-1224-5p	CLIP-seq
MIRT2141051	hsa-miR-1273d	CLIP-seq
MIRT1469378	hsa-miR-130a	CLIP-seq
MIRT1469379	hsa-miR-130b	CLIP-seq
MIRT2141052	hsa-miR-153	CLIP-seq
MIRT2141053	hsa-miR-186	CLIP-seq
MIRT2141054	hsa-miR-191	CLIP-seq
MIRT1469381	hsa-miR-301a	CLIP-seq
MIRT1469382	hsa-miR-301b	CLIP-seq
MIRT1469384	hsa-miR-3180-5p	CLIP-seq
MIRT1469387	hsa-miR-3666	CLIP-seq
MIRT2141055	hsa-miR-3915	CLIP-seq
MIRT1469389	hsa-miR-3942-3p	CLIP-seq
MIRT1469391	hsa-miR-4267	CLIP-seq
MIRT1469392	hsa-miR-4276	CLIP-seq
MIRT1469393	hsa-miR-4295	CLIP-seq
MIRT1469394	hsa-miR-4302	CLIP-seq
MIRT1469395	hsa-miR-4428	CLIP-seq
MIRT2141056	hsa-miR-4533	CLIP-seq
MIRT1469396	hsa-miR-454	CLIP-seq
MIRT1469397	hsa-miR-4671-3p	CLIP-seq
MIRT2141057	hsa-miR-4695-3p	CLIP-seq
MIRT2362100	hsa-miR-1206	CLIP-seq
MIRT1469377	hsa-miR-1303	CLIP-seq
MIRT1469378	hsa-miR-130a	CLIP-seq
MIRT1469379	hsa-miR-130b	CLIP-seq
MIRT2362101	hsa-miR-1343	CLIP-seq
MIRT2362102	hsa-miR-1827	CLIP-seq
MIRT2362103	hsa-miR-184	CLIP-seq
MIRT2362104	hsa-miR-1914	CLIP-seq
MIRT2362105	hsa-miR-1915	CLIP-seq
MIRT1469380	hsa-miR-2110	CLIP-seq
MIRT2362106	hsa-miR-23a	CLIP-seq
MIRT2362107	hsa-miR-23b	CLIP-seq
MIRT2362108	hsa-miR-23c	CLIP-seq
MIRT1469381	hsa-miR-301a	CLIP-seq
MIRT1469382	hsa-miR-301b	CLIP-seq
MIRT2362109	hsa-miR-3138	CLIP-seq
MIRT1469383	hsa-miR-3150a-3p	CLIP-seq
MIRT2362110	hsa-miR-3192	CLIP-seq
MIRT2362111	hsa-miR-3197	CLIP-seq
MIRT2362112	hsa-miR-3199	CLIP-seq
MIRT1469385	hsa-miR-335	CLIP-seq
MIRT2362113	hsa-miR-3612	CLIP-seq
MIRT2362114	hsa-miR-3622b-5p	CLIP-seq
MIRT1469387	hsa-miR-3666	CLIP-seq
MIRT1469389	hsa-miR-3942-3p	CLIP-seq
MIRT1469390	hsa-miR-4260	CLIP-seq
MIRT2362115	hsa-miR-4271	CLIP-seq
MIRT1469392	hsa-miR-4276	CLIP-seq
MIRT1469393	hsa-miR-4295	CLIP-seq
MIRT2362116	hsa-miR-4304	CLIP-seq
MIRT2362117	hsa-miR-4305	CLIP-seq
MIRT2362118	hsa-miR-4314	CLIP-seq
MIRT2362119	hsa-miR-432	CLIP-seq
MIRT1469395	hsa-miR-4428	CLIP-seq
MIRT2362120	hsa-miR-4443	CLIP-seq
MIRT2362121	hsa-miR-4514	CLIP-seq
MIRT2141056	hsa-miR-4533	CLIP-seq
MIRT1469396	hsa-miR-454	CLIP-seq
MIRT2362122	hsa-miR-4646-5p	CLIP-seq
MIRT2362123	hsa-miR-4687-3p	CLIP-seq
MIRT2362124	hsa-miR-4692	CLIP-seq
MIRT1469413	hsa-miR-4697-3p	CLIP-seq
MIRT2362125	hsa-miR-4725-3p	CLIP-seq
MIRT2362126	hsa-miR-4726-3p	CLIP-seq
MIRT2362127	hsa-miR-4800-5p	CLIP-seq
MIRT2362128	hsa-miR-4802-5p	CLIP-seq
MIRT2362129	hsa-miR-4804-5p	CLIP-seq
MIRT2362130	hsa-miR-485-3p	CLIP-seq
MIRT2362131	hsa-miR-650	CLIP-seq
MIRT2141053	hsa-miR-186	CLIP-seq
MIRT2396597	hsa-miR-2392	CLIP-seq
MIRT2396598	hsa-miR-4254	CLIP-seq
MIRT2396599	hsa-miR-4308	CLIP-seq
MIRT2396600	hsa-miR-670	CLIP-seq
MIRT2141051	hsa-miR-1273d	CLIP-seq
MIRT2462812	hsa-miR-548aa	CLIP-seq
MIRT2462813	hsa-miR-548ac	CLIP-seq
MIRT2462814	hsa-miR-548d-3p	CLIP-seq
MIRT2462815	hsa-miR-548z	CLIP-seq
MIRT2141050	hsa-miR-1224-5p	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT2655805	hsa-miR-1252	CLIP-seq
MIRT2655806	hsa-miR-1270	CLIP-seq
MIRT2655807	hsa-miR-1286	CLIP-seq
MIRT2655808	hsa-miR-1299	CLIP-seq
MIRT2655809	hsa-miR-1304	CLIP-seq
MIRT2362101	hsa-miR-1343	CLIP-seq
MIRT2655810	hsa-miR-150	CLIP-seq
MIRT2655811	hsa-miR-2052	CLIP-seq
MIRT1469380	hsa-miR-2110	CLIP-seq
MIRT2655812	hsa-miR-2277-3p	CLIP-seq
MIRT2655813	hsa-miR-2278	CLIP-seq
MIRT2655814	hsa-miR-2467-3p	CLIP-seq
MIRT2655815	hsa-miR-2861	CLIP-seq
MIRT2655816	hsa-miR-31	CLIP-seq
MIRT2655817	hsa-miR-3126-5p	CLIP-seq
MIRT2655818	hsa-miR-3148	CLIP-seq
MIRT1469383	hsa-miR-3150a-3p	CLIP-seq
MIRT2655819	hsa-miR-3150b-3p	CLIP-seq
MIRT2655820	hsa-miR-3165	CLIP-seq
MIRT2655821	hsa-miR-3169	CLIP-seq
MIRT2362112	hsa-miR-3199	CLIP-seq
MIRT2655822	hsa-miR-323-5p	CLIP-seq
MIRT2655823	hsa-miR-361-3p	CLIP-seq
MIRT2655824	hsa-miR-3665	CLIP-seq
MIRT2655825	hsa-miR-3667-3p	CLIP-seq
MIRT2655826	hsa-miR-3679-3p	CLIP-seq
MIRT2655827	hsa-miR-3688-5p	CLIP-seq
MIRT2655828	hsa-miR-3689d	CLIP-seq
MIRT1469388	hsa-miR-3714	CLIP-seq
MIRT2655829	hsa-miR-3914	CLIP-seq
MIRT2141055	hsa-miR-3915	CLIP-seq
MIRT2655830	hsa-miR-3978	CLIP-seq
MIRT2655831	hsa-miR-4252	CLIP-seq
MIRT1469390	hsa-miR-4260	CLIP-seq
MIRT2655832	hsa-miR-4261	CLIP-seq
MIRT2362115	hsa-miR-4271	CLIP-seq
MIRT2655833	hsa-miR-4297	CLIP-seq
MIRT2655834	hsa-miR-4307	CLIP-seq
MIRT2655835	hsa-miR-4318	CLIP-seq
MIRT2655836	hsa-miR-4434	CLIP-seq
MIRT2655837	hsa-miR-4468	CLIP-seq
MIRT2655838	hsa-miR-4504	CLIP-seq
MIRT2655839	hsa-miR-4508	CLIP-seq
MIRT2655840	hsa-miR-450a	CLIP-seq
MIRT2362121	hsa-miR-4514	CLIP-seq
MIRT2655841	hsa-miR-4515	CLIP-seq
MIRT2655842	hsa-miR-4516	CLIP-seq
MIRT2655843	hsa-miR-4531	CLIP-seq
MIRT2655844	hsa-miR-4639-5p	CLIP-seq
MIRT2655845	hsa-miR-4645-3p	CLIP-seq
MIRT2655846	hsa-miR-4659a-3p	CLIP-seq
MIRT2655847	hsa-miR-4659b-3p	CLIP-seq
MIRT2655848	hsa-miR-4661-5p	CLIP-seq
MIRT2655849	hsa-miR-4667-5p	CLIP-seq
MIRT2655850	hsa-miR-4689	CLIP-seq
MIRT1469398	hsa-miR-4690-5p	CLIP-seq
MIRT2362124	hsa-miR-4692	CLIP-seq
MIRT2655851	hsa-miR-4700-5p	CLIP-seq
MIRT2655852	hsa-miR-4714-3p	CLIP-seq
MIRT2655853	hsa-miR-4714-5p	CLIP-seq
MIRT1469414	hsa-miR-4722-5p	CLIP-seq
MIRT2362125	hsa-miR-4725-3p	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT2655854	hsa-miR-4738-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT2655855	hsa-miR-4779	CLIP-seq
MIRT2655856	hsa-miR-4782-5p	CLIP-seq
MIRT2655857	hsa-miR-4784	CLIP-seq
MIRT2655858	hsa-miR-4796-3p	CLIP-seq
MIRT2655859	hsa-miR-483-5p	CLIP-seq
MIRT2655860	hsa-miR-501-3p	CLIP-seq
MIRT2655861	hsa-miR-502-3p	CLIP-seq
MIRT2655862	hsa-miR-516b	CLIP-seq
MIRT2655863	hsa-miR-542-3p	CLIP-seq
MIRT1469405	hsa-miR-548an	CLIP-seq
MIRT2655864	hsa-miR-615-5p	CLIP-seq
MIRT2655865	hsa-miR-620	CLIP-seq
MIRT2655866	hsa-miR-622	CLIP-seq
MIRT2655867	hsa-miR-637	CLIP-seq
MIRT2655868	hsa-miR-657	CLIP-seq
MIRT2655869	hsa-miR-663b	CLIP-seq
MIRT2655870	hsa-miR-711	CLIP-seq
MIRT2655871	hsa-miR-764	CLIP-seq
MIRT2655872	hsa-miR-875-3p	CLIP-seq
MIRT2655873	hsa-miR-876-3p	CLIP-seq
MIRT2655874	hsa-miR-933	CLIP-seq
MIRT2141050	hsa-miR-1224-5p	CLIP-seq
MIRT1469375	hsa-miR-1226	CLIP-seq
MIRT2655806	hsa-miR-1270	CLIP-seq
MIRT2655808	hsa-miR-1299	CLIP-seq
MIRT2655809	hsa-miR-1304	CLIP-seq
MIRT2362101	hsa-miR-1343	CLIP-seq
MIRT2655810	hsa-miR-150	CLIP-seq
MIRT2655811	hsa-miR-2052	CLIP-seq
MIRT1469380	hsa-miR-2110	CLIP-seq
MIRT2655812	hsa-miR-2277-3p	CLIP-seq
MIRT2655813	hsa-miR-2278	CLIP-seq
MIRT2655814	hsa-miR-2467-3p	CLIP-seq
MIRT2655815	hsa-miR-2861	CLIP-seq
MIRT2655817	hsa-miR-3126-5p	CLIP-seq
MIRT2655818	hsa-miR-3148	CLIP-seq
MIRT1469383	hsa-miR-3150a-3p	CLIP-seq
MIRT2655819	hsa-miR-3150b-3p	CLIP-seq
MIRT2655820	hsa-miR-3165	CLIP-seq
MIRT2362112	hsa-miR-3199	CLIP-seq
MIRT2655822	hsa-miR-323-5p	CLIP-seq
MIRT2655825	hsa-miR-3667-3p	CLIP-seq
MIRT1469388	hsa-miR-3714	CLIP-seq
MIRT2655829	hsa-miR-3914	CLIP-seq
MIRT2141055	hsa-miR-3915	CLIP-seq
MIRT2655830	hsa-miR-3978	CLIP-seq
MIRT2655831	hsa-miR-4252	CLIP-seq
MIRT1469390	hsa-miR-4260	CLIP-seq
MIRT2655832	hsa-miR-4261	CLIP-seq
MIRT2362115	hsa-miR-4271	CLIP-seq
MIRT2655833	hsa-miR-4297	CLIP-seq
MIRT2655834	hsa-miR-4307	CLIP-seq
MIRT2655837	hsa-miR-4468	CLIP-seq
MIRT2655838	hsa-miR-4504	CLIP-seq
MIRT2655839	hsa-miR-4508	CLIP-seq
MIRT2655840	hsa-miR-450a	CLIP-seq
MIRT2362121	hsa-miR-4514	CLIP-seq
MIRT2655841	hsa-miR-4515	CLIP-seq
MIRT2655843	hsa-miR-4531	CLIP-seq
MIRT2655844	hsa-miR-4639-5p	CLIP-seq
MIRT2655845	hsa-miR-4645-3p	CLIP-seq
MIRT2655848	hsa-miR-4661-5p	CLIP-seq
MIRT2655849	hsa-miR-4667-5p	CLIP-seq
MIRT2655850	hsa-miR-4689	CLIP-seq
MIRT1469398	hsa-miR-4690-5p	CLIP-seq
MIRT2362124	hsa-miR-4692	CLIP-seq
MIRT2655851	hsa-miR-4700-5p	CLIP-seq
MIRT2655852	hsa-miR-4714-3p	CLIP-seq
MIRT2362125	hsa-miR-4725-3p	CLIP-seq
MIRT1469399	hsa-miR-4727-5p	CLIP-seq
MIRT1469400	hsa-miR-4733-3p	CLIP-seq
MIRT1469401	hsa-miR-4749-3p	CLIP-seq
MIRT1469402	hsa-miR-4769-3p	CLIP-seq
MIRT2655855	hsa-miR-4779	CLIP-seq
MIRT2655856	hsa-miR-4782-5p	CLIP-seq
MIRT2655857	hsa-miR-4784	CLIP-seq
MIRT2655860	hsa-miR-501-3p	CLIP-seq
MIRT2655861	hsa-miR-502-3p	CLIP-seq
MIRT2655862	hsa-miR-516b	CLIP-seq
MIRT2655863	hsa-miR-542-3p	CLIP-seq
MIRT1469405	hsa-miR-548an	CLIP-seq
MIRT2655864	hsa-miR-615-5p	CLIP-seq
MIRT2655865	hsa-miR-620	CLIP-seq
MIRT2655866	hsa-miR-622	CLIP-seq
MIRT2655867	hsa-miR-637	CLIP-seq
MIRT2655870	hsa-miR-711	CLIP-seq
MIRT2655872	hsa-miR-875-3p	CLIP-seq
MIRT2655873	hsa-miR-876-3p	CLIP-seq
MIRT2655874	hsa-miR-933	CLIP-seq

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	IDA	28003368
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	28003368
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA

MIM	HGNC	e!Ensembl
608047	13478	ENSG00000151148

Q7Z3V4

Protein name

Ubiquitin-protein ligase E3B (EC 2.3.2.26) (HECT-type ubiquitin transferase E3B)

Protein function

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates BCKDK and targets it for degradation, thereby

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00632	HECT	736 → 1068	HECT-domain (ubiquitin-transferase)	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12837265}.

Sequence

MFTLSQTSRAWFIDRARQAREERLVQKERERAAVVIQAHVRSFLCRSRLQRDIRREIDDF
FKADDPESTKRSALCIFKIARKLLFLFRIKEDNERFEKLCRSILSSMDAENEPKVWYVSL
ACSKDLTLLWIQQIKNILWYCCDFLKQLKPEILQDSRLITLYLTMLVTFTDTSTWKILRG
KGESLRPAMNHICANIMGHLNQHGFYSVLQILLTRGLARPRPCLSKGTLTAAFSLALRPV
IAAQFSDNLIRPFLIHIMSVPALVTHLSTVTPERLTVLESHDMLRKFIIFLRDQDRCRDV
CESLEGCHTLCLMGNLLHLGSLSPRVLEEETDGFVSLLTQTLCYCRKYVSQKKSNLTHWH
PVLGWFSQSVDYGLNESMHLITKQLQFLWGVPLIRIFFCDILSKKLLESQEPAHAQPASP
QNVLPVKSLLKRAFQKSASVRNILRPVGGKRVDSAEVQKVCNICVLYQTSLTTLTQIRLQ
ILTGLTYLDDLLPKLWAFICELGPHGGLKLFLECLNNDTEESKQLLAMLMLFCDCSRHLI
TILDDIEVYEEQISFKLEELVTISSFLNSFVFKMIWDGIVENAKGETLELFQSVHGWLMV
LYERDCRRRFTPEDHWLRKDLKPSVLFQELDRDRKRAQLILQYIPHVIPHKNRVLLFRTM
VTKEKEKLGLVETSSASPHVTHITIRRSRMLEDGYEQLRQLSQHAMKGVIRVKFVNDLGV
DEAGIDQDGVFKEFLEEIIKRVFDPALNLFKTTSGDERLYPSPTSYIHENYLQLFEFVGK
MLGKAVYEGIVVDVPFASFFLSQLLGHHHSVFYSSVDELPSLDSEFYKNLTSIKRYDGDI
TDLGLTLSYDEDVMGQLVCHELIPGGKTIPVTNENKISYIHLMAHFRMHTQIKNQTAALI
SGFRSIIKPEWIRMFSTPELQRLISGDNAEIDLEDLKKHTVYYGGFHGSHRVIIWLWDIL
ASDFTPDERAMFLKFVTSCSRPPLLGFAYLKPPFSIRCVEVSDDQDTGDTLGSVLRGFFT
IRKREPGGRLPTSSTCFNLLKLPNYSKKSVLREKLRYAISMNTGFELS

Sequence length

1068

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Blepharophimosis - intellectual disability syndrome	Pathogenic	rs2548565787	RCV003226126
Oculocerebrofacial syndrome, Kaufman type	Pathogenic; Likely pathogenic	rs758821239, rs2136066523, rs918170054, rs2548588658, rs2136030901, rs2136102483, rs2136067033, rs2136063413, rs748637278, rs539407162, rs775981553, rs2548543775, rs989411551, rs1878434294, rs2548523843 View all (18 more)	RCV001334468 RCV001785107 RCV001785108 RCV002291314 RCV002244307 RCV002245275 RCV002254001 RCV002254002 RCV002291178 RCV000578255 RCV001249701 RCV003108235 RCV003152838 RCV003314455 RCV003335850 RCV003335851 RCV003340915 RCV003985162 RCV003989893 RCV004527489 RCV000578416 RCV001542599 RCV002283497 RCV000043487 RCV000043488 RCV000043489 RCV000043490 RCV000824873 RCV000988901 RCV004527407 RCV001029743 RCV001029742 RCV001089655

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs672601304, rs672601305	-
Acute myeloid leukemia	Benign	rs61733773	RCV005907069
Cervical cancer	Benign	rs61733773	RCV005907071
Clear cell carcinoma of kidney	Benign	rs61733773	RCV005907072
Colon adenocarcinoma	Benign	rs61733773	RCV005907068
Gastric cancer	Benign	rs148011437, rs61733773	RCV005926994 RCV005907074
Hepatocellular carcinoma	Benign	rs61733773	RCV005907070
Intellectual disability	Uncertain significance	rs1463587266	RCV005626742
Lung cancer	Benign	rs61733773	RCV005907078
Lymphoma	Likely benign	rs369770710	RCV005930556
Malignant tumor of urinary bladder	Likely benign	rs757679020	RCV005930481
Melanoma	Benign	rs61733773	RCV005907077
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	rs753221661	RCV000677247
Ovarian serous cystadenocarcinoma	Benign	rs61733773	RCV005907075
Sarcoma	Benign	rs61733773	RCV005907073
Thyroid cancer, nonmedullary, 1	Benign	rs61733773	RCV005907076
UBE3B-related disorder	Benign; Likely benign	rs61748069, rs150249985, rs772468185, rs143424446, rs1373370471, rs764202583, rs150971562, rs113987841, rs113073132	RCV003913718 RCV003936565 RCV003926649 RCV003966509 RCV003944465 RCV003971619 RCV003920398 RCV003955688 RCV003895331
Uterine corpus endometrial carcinoma	Benign	rs61733773	RCV005907079

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autistic Disorder	Associate	22511880
Developmental Disabilities	Associate	28003643
Frontotemporal Dementia	Associate	28251352
Hearing Loss	Associate	34847940
Hypersensitivity Delayed	Associate	28251352
Kaufman oculocerebrofacial syndrome	Associate	23687348, 28003368
Myositis	Associate	27388770
Oculocerebrorenal Syndrome	Associate	28003643

UBE3B (ubiquitin protein ligase E3B)