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

Show/Hide all (21)

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

Show/Hide all (323)

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

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
Blepharophimosis - intellectual disability syndrome	Pathogenic	rs2548565787	RCV003226126	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (28 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (24)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPHIMOSIS, INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic nerve hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBE3B-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (71)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absent eyebrow	Absent eyebrow	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22511880	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	30654553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choroideremia	Choroideremia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence	Toriello-Carey syndrome	BEFREE	24615390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28003643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Digitorenocerebral Syndrome	Digitorenocerebral Syndrome	BEFREE	28003643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12837265, 23200864, 23687348, 24615390, 25691420, 28003368, 28003643, 29160006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	24615390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	10868479		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28251352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	24615390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34847940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	28251352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28003643		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial Cystitis	Interstitial Cystitis	BEFREE	18388918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	BEFREE	23200864, 23687348, 24615390, 25691420, 29160006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	GENOMICS_ENGLAND_DG	23200864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	UNIPROT_DG	23200864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	ORPHANET_DG	23687348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	CTD_human_DG	28003368		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kaufman oculocerebrofacial syndrome	Kaufman Oculocerebrofacial Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	19219680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngomalacia	Laryngomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngospasm	Laryngospasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	30654553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	28003643		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	12837265, 23200864, 23687348, 24615390, 25691420, 28003368, 28003643, 29160006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	27388770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	9255939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrofacial syndrome, Kaufman type	Kaufman oculocerebrofacial syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	28003643	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30061555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	23200864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	24615390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	2153540		★★★★★ ★☆☆☆☆ Found in Text Mining only

UBE3B (ubiquitin protein ligase E3B)