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	7319
Gene name	Ubiquitin conjugating enzyme E2 A
Gene symbol	UBE2A
Synonyms (NCBI Gene)	HHR6AMRXS30MRXSNRAD6AUBC2
Chromosome	X
Chromosome location	Xq24
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: ubiquitin-activating enzymes, ubiquitin-conjugating e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894952	C>T	Pathogenic	Coding sequence variant, stop gained
rs387906728	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057524693	G>A	Likely-pathogenic	Splice acceptor variant
rs1556235119	A>G	Likely-pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs1556235551	G>A	Pathogenic, not-provided	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556235612	T>C	Pathogenic	Splice donor variant
rs1556244406	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1603308066	CGGGACTTCAAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant

363

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miRTarBase ID	miRNA	Experiments	Reference
MIRT051916	hsa-let-7b-5p	CLASH	23622248
MIRT050167	hsa-miR-26a-5p	CLASH	23622248
MIRT037559	hsa-miR-744-5p	CLASH	23622248
MIRT036410	hsa-miR-1226-3p	CLASH	23622248
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513631	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT513630	hsa-miR-1273d	PAR-CLIP	20371350
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	20371350
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT553208	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553207	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT553206	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT553205	hsa-miR-5700	PAR-CLIP	21572407
MIRT553204	hsa-miR-4802-3p	PAR-CLIP	21572407
MIRT553203	hsa-miR-942-3p	PAR-CLIP	21572407
MIRT553202	hsa-miR-4773	PAR-CLIP	21572407
MIRT553201	hsa-miR-4504	PAR-CLIP	21572407
MIRT553200	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT553199	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT553198	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553197	hsa-miR-527	PAR-CLIP	21572407
MIRT553196	hsa-miR-6079	PAR-CLIP	21572407
MIRT553195	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT553194	hsa-miR-8061	PAR-CLIP	21572407
MIRT553193	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513631	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT513630	hsa-miR-1273d	PAR-CLIP	23446348
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513632	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT513631	hsa-miR-144-3p	PAR-CLIP	20371350
MIRT513630	hsa-miR-1273d	PAR-CLIP	20371350
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	20371350
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	20371350
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	20371350
MIRT553208	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT553207	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT553206	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT553205	hsa-miR-5700	PAR-CLIP	21572407
MIRT553204	hsa-miR-4802-3p	PAR-CLIP	21572407
MIRT553203	hsa-miR-942-3p	PAR-CLIP	21572407
MIRT553202	hsa-miR-4773	PAR-CLIP	21572407
MIRT553201	hsa-miR-4504	PAR-CLIP	21572407
MIRT553200	hsa-miR-4666a-5p	PAR-CLIP	21572407
MIRT553199	hsa-miR-376a-5p	PAR-CLIP	21572407
MIRT553198	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT553197	hsa-miR-527	PAR-CLIP	21572407
MIRT553196	hsa-miR-6079	PAR-CLIP	21572407
MIRT553195	hsa-miR-4760-5p	PAR-CLIP	21572407
MIRT553194	hsa-miR-8061	PAR-CLIP	21572407
MIRT553193	hsa-miR-2681-5p	PAR-CLIP	21572407
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513632	hsa-miR-101-3p	PAR-CLIP	23446348
MIRT513631	hsa-miR-144-3p	PAR-CLIP	23446348
MIRT513630	hsa-miR-1273d	PAR-CLIP	23446348
MIRT513629	hsa-miR-4726-3p	PAR-CLIP	23446348
MIRT513628	hsa-miR-376a-3p	PAR-CLIP	23446348
MIRT513627	hsa-miR-376b-3p	PAR-CLIP	23446348
MIRT1466926	hsa-miR-1202	CLIP-seq
MIRT1466927	hsa-miR-1237	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466929	hsa-miR-1248	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT1466932	hsa-miR-1321	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT1466937	hsa-miR-3136-5p	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT1466940	hsa-miR-3162-5p	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT1466943	hsa-miR-3689d	CLIP-seq
MIRT1466944	hsa-miR-3972	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT1466946	hsa-miR-4279	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT1466948	hsa-miR-4439	CLIP-seq
MIRT1466949	hsa-miR-4513	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT1466957	hsa-miR-4739	CLIP-seq
MIRT1466958	hsa-miR-4756-5p	CLIP-seq
MIRT1466959	hsa-miR-4793-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654794	hsa-miR-101	CLIP-seq
MIRT2654795	hsa-miR-103a	CLIP-seq
MIRT2654796	hsa-miR-107	CLIP-seq
MIRT2654797	hsa-miR-1245b-3p	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT2654798	hsa-miR-1265	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT2654799	hsa-miR-129-5p	CLIP-seq
MIRT2654800	hsa-miR-144	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT2654801	hsa-miR-214	CLIP-seq
MIRT2654802	hsa-miR-223	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT2654803	hsa-miR-3064-3p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT2654804	hsa-miR-3119	CLIP-seq
MIRT2654805	hsa-miR-3132	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT2654806	hsa-miR-3146	CLIP-seq
MIRT2654807	hsa-miR-3148	CLIP-seq
MIRT2654808	hsa-miR-3154	CLIP-seq
MIRT2654809	hsa-miR-3166	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT2654810	hsa-miR-3173-3p	CLIP-seq
MIRT2654811	hsa-miR-3179	CLIP-seq
MIRT2654812	hsa-miR-3605-5p	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2654813	hsa-miR-3619-5p	CLIP-seq
MIRT2654814	hsa-miR-3622b-5p	CLIP-seq
MIRT2654815	hsa-miR-3659	CLIP-seq
MIRT2654816	hsa-miR-3664-3p	CLIP-seq
MIRT2654817	hsa-miR-3667-3p	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT2654818	hsa-miR-376a	CLIP-seq
MIRT2654819	hsa-miR-376b	CLIP-seq
MIRT2654820	hsa-miR-3936	CLIP-seq
MIRT2654821	hsa-miR-3942-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2654822	hsa-miR-4287	CLIP-seq
MIRT2654823	hsa-miR-4291	CLIP-seq
MIRT2654824	hsa-miR-4311	CLIP-seq
MIRT2654825	hsa-miR-4327	CLIP-seq
MIRT2654826	hsa-miR-4330	CLIP-seq
MIRT2654827	hsa-miR-4422	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT2654828	hsa-miR-4428	CLIP-seq
MIRT2654829	hsa-miR-4435	CLIP-seq
MIRT2654830	hsa-miR-4445	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT2654831	hsa-miR-4452	CLIP-seq
MIRT2654832	hsa-miR-4477b	CLIP-seq
MIRT2654833	hsa-miR-4481	CLIP-seq
MIRT2654834	hsa-miR-4496	CLIP-seq
MIRT2654835	hsa-miR-4502	CLIP-seq
MIRT2654836	hsa-miR-450b-5p	CLIP-seq
MIRT2654837	hsa-miR-4642	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT2654838	hsa-miR-4650-3p	CLIP-seq
MIRT2654839	hsa-miR-4658	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654840	hsa-miR-4685-3p	CLIP-seq
MIRT2654841	hsa-miR-4697-3p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT2654842	hsa-miR-4703-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT2654843	hsa-miR-4728-3p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT2654844	hsa-miR-4738-3p	CLIP-seq
MIRT2654845	hsa-miR-4745-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2654846	hsa-miR-4758-5p	CLIP-seq
MIRT2654847	hsa-miR-4760-3p	CLIP-seq
MIRT2654848	hsa-miR-4762-3p	CLIP-seq
MIRT2654849	hsa-miR-4764-5p	CLIP-seq
MIRT2654850	hsa-miR-4766-5p	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2654851	hsa-miR-4798-3p	CLIP-seq
MIRT2654852	hsa-miR-4799-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT2654853	hsa-miR-488	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT2654854	hsa-miR-494	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT2654855	hsa-miR-502-5p	CLIP-seq
MIRT2654856	hsa-miR-507	CLIP-seq
MIRT2654857	hsa-miR-510	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2654858	hsa-miR-548g	CLIP-seq
MIRT2654859	hsa-miR-548l	CLIP-seq
MIRT2654860	hsa-miR-548m	CLIP-seq
MIRT2654861	hsa-miR-548n	CLIP-seq
MIRT2654862	hsa-miR-548t	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT2654863	hsa-miR-557	CLIP-seq
MIRT2654864	hsa-miR-574-5p	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2654865	hsa-miR-592	CLIP-seq
MIRT2654866	hsa-miR-597	CLIP-seq
MIRT2654867	hsa-miR-605	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2654868	hsa-miR-646	CLIP-seq
MIRT2654869	hsa-miR-648	CLIP-seq
MIRT2654870	hsa-miR-664	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT2654871	hsa-miR-761	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2654872	hsa-miR-922	CLIP-seq
MIRT2654794	hsa-miR-101	CLIP-seq
MIRT2654795	hsa-miR-103a	CLIP-seq
MIRT2654796	hsa-miR-107	CLIP-seq
MIRT2654797	hsa-miR-1245b-3p	CLIP-seq
MIRT1466928	hsa-miR-1246	CLIP-seq
MIRT1466930	hsa-miR-1252	CLIP-seq
MIRT2654798	hsa-miR-1265	CLIP-seq
MIRT1466931	hsa-miR-1290	CLIP-seq
MIRT2654799	hsa-miR-129-5p	CLIP-seq
MIRT2654800	hsa-miR-144	CLIP-seq
MIRT2140332	hsa-miR-181a	CLIP-seq
MIRT2140333	hsa-miR-181b	CLIP-seq
MIRT2140334	hsa-miR-181c	CLIP-seq
MIRT2140335	hsa-miR-181d	CLIP-seq
MIRT1466933	hsa-miR-182	CLIP-seq
MIRT1466934	hsa-miR-205	CLIP-seq
MIRT2654801	hsa-miR-214	CLIP-seq
MIRT1466935	hsa-miR-28-5p	CLIP-seq
MIRT2654803	hsa-miR-3064-3p	CLIP-seq
MIRT1466936	hsa-miR-31	CLIP-seq
MIRT2654804	hsa-miR-3119	CLIP-seq
MIRT2654805	hsa-miR-3132	CLIP-seq
MIRT1466938	hsa-miR-3137	CLIP-seq
MIRT1466939	hsa-miR-3139	CLIP-seq
MIRT2654806	hsa-miR-3146	CLIP-seq
MIRT2654808	hsa-miR-3154	CLIP-seq
MIRT2654809	hsa-miR-3166	CLIP-seq
MIRT1466941	hsa-miR-3167	CLIP-seq
MIRT2654810	hsa-miR-3173-3p	CLIP-seq
MIRT2654811	hsa-miR-3179	CLIP-seq
MIRT2654812	hsa-miR-3605-5p	CLIP-seq
MIRT2361072	hsa-miR-3613-3p	CLIP-seq
MIRT2654813	hsa-miR-3619-5p	CLIP-seq
MIRT2654814	hsa-miR-3622b-5p	CLIP-seq
MIRT2654815	hsa-miR-3659	CLIP-seq
MIRT2654816	hsa-miR-3664-3p	CLIP-seq
MIRT2654817	hsa-miR-3667-3p	CLIP-seq
MIRT1466942	hsa-miR-3688-3p	CLIP-seq
MIRT2361073	hsa-miR-371b-5p	CLIP-seq
MIRT2654818	hsa-miR-376a	CLIP-seq
MIRT2654819	hsa-miR-376b	CLIP-seq
MIRT2654820	hsa-miR-3936	CLIP-seq
MIRT2654821	hsa-miR-3942-5p	CLIP-seq
MIRT1466945	hsa-miR-4261	CLIP-seq
MIRT2140336	hsa-miR-4262	CLIP-seq
MIRT2654822	hsa-miR-4287	CLIP-seq
MIRT2654823	hsa-miR-4291	CLIP-seq
MIRT2654824	hsa-miR-4311	CLIP-seq
MIRT2654825	hsa-miR-4327	CLIP-seq
MIRT2654826	hsa-miR-4330	CLIP-seq
MIRT2654827	hsa-miR-4422	CLIP-seq
MIRT1466947	hsa-miR-4426	CLIP-seq
MIRT2654828	hsa-miR-4428	CLIP-seq
MIRT2654829	hsa-miR-4435	CLIP-seq
MIRT2654830	hsa-miR-4445	CLIP-seq
MIRT2361074	hsa-miR-4446-5p	CLIP-seq
MIRT2654831	hsa-miR-4452	CLIP-seq
MIRT2654832	hsa-miR-4477b	CLIP-seq
MIRT2654833	hsa-miR-4481	CLIP-seq
MIRT2654834	hsa-miR-4496	CLIP-seq
MIRT2654835	hsa-miR-4502	CLIP-seq
MIRT2654836	hsa-miR-450b-5p	CLIP-seq
MIRT2654837	hsa-miR-4642	CLIP-seq
MIRT1466950	hsa-miR-4647	CLIP-seq
MIRT2654838	hsa-miR-4650-3p	CLIP-seq
MIRT2654839	hsa-miR-4658	CLIP-seq
MIRT1466951	hsa-miR-4662b	CLIP-seq
MIRT1466952	hsa-miR-4666-5p	CLIP-seq
MIRT2654840	hsa-miR-4685-3p	CLIP-seq
MIRT1466953	hsa-miR-4698	CLIP-seq
MIRT2654842	hsa-miR-4703-5p	CLIP-seq
MIRT1466954	hsa-miR-4709-5p	CLIP-seq
MIRT1466955	hsa-miR-4717-5p	CLIP-seq
MIRT2654843	hsa-miR-4728-3p	CLIP-seq
MIRT1466956	hsa-miR-4731-3p	CLIP-seq
MIRT2654844	hsa-miR-4738-3p	CLIP-seq
MIRT2654845	hsa-miR-4745-5p	CLIP-seq
MIRT2361075	hsa-miR-4755-5p	CLIP-seq
MIRT2654846	hsa-miR-4758-5p	CLIP-seq
MIRT2654847	hsa-miR-4760-3p	CLIP-seq
MIRT2654848	hsa-miR-4762-3p	CLIP-seq
MIRT2654849	hsa-miR-4764-5p	CLIP-seq
MIRT2654850	hsa-miR-4766-5p	CLIP-seq
MIRT2140337	hsa-miR-4775	CLIP-seq
MIRT2654851	hsa-miR-4798-3p	CLIP-seq
MIRT2654852	hsa-miR-4799-5p	CLIP-seq
MIRT1466960	hsa-miR-4801	CLIP-seq
MIRT2654853	hsa-miR-488	CLIP-seq
MIRT1466961	hsa-miR-490-5p	CLIP-seq
MIRT1466962	hsa-miR-501-5p	CLIP-seq
MIRT2654855	hsa-miR-502-5p	CLIP-seq
MIRT2654856	hsa-miR-507	CLIP-seq
MIRT2654857	hsa-miR-510	CLIP-seq
MIRT1466963	hsa-miR-513a-5p	CLIP-seq
MIRT2361076	hsa-miR-548ae	CLIP-seq
MIRT2361077	hsa-miR-548aj	CLIP-seq
MIRT2361078	hsa-miR-548am	CLIP-seq
MIRT2654858	hsa-miR-548g	CLIP-seq
MIRT2654859	hsa-miR-548l	CLIP-seq
MIRT2654860	hsa-miR-548m	CLIP-seq
MIRT2654861	hsa-miR-548n	CLIP-seq
MIRT2654862	hsa-miR-548t	CLIP-seq
MIRT2361079	hsa-miR-548x	CLIP-seq
MIRT2654863	hsa-miR-557	CLIP-seq
MIRT2654864	hsa-miR-574-5p	CLIP-seq
MIRT2694603	hsa-miR-587	CLIP-seq
MIRT2140338	hsa-miR-590-3p	CLIP-seq
MIRT2654865	hsa-miR-592	CLIP-seq
MIRT2654866	hsa-miR-597	CLIP-seq
MIRT2654867	hsa-miR-605	CLIP-seq
MIRT2140339	hsa-miR-609	CLIP-seq
MIRT2654868	hsa-miR-646	CLIP-seq
MIRT2654869	hsa-miR-648	CLIP-seq
MIRT2654870	hsa-miR-664	CLIP-seq
MIRT1466964	hsa-miR-708	CLIP-seq
MIRT2654871	hsa-miR-761	CLIP-seq
MIRT2694604	hsa-miR-767-3p	CLIP-seq
MIRT1466965	hsa-miR-876-5p	CLIP-seq
MIRT2654872	hsa-miR-922	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	IDA	11953320
GO:0000166	Function	Nucleotide binding	IEA
GO:0000209	Process	Protein polyubiquitination	IBA
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0000785	Component	Chromatin	ISS
GO:0002181	Process	Cytoplasmic translation	IC	23636399
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	20061386
GO:0005515	Function	Protein binding	IPI	19549727, 21329877, 24981860, 25416956, 26496610, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IGI	1717990
GO:0006301	Process	Postreplication repair	NAS	1559696
GO:0006325	Process	Chromatin organization	IEA
GO:0006338	Process	Chromatin remodeling	IMP	11953320
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	1559696
GO:0006974	Process	DNA damage response	IEA
GO:0009411	Process	Response to UV	IGI	1717990
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019787	Function	Ubiquitin-like protein transferase activity	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	10908344
GO:0033503	Component	HULC complex	IBA
GO:0033503	Component	HULC complex	IDA	19410543
GO:0033503	Component	HULC complex	IEA
GO:0043130	Function	Ubiquitin binding	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	38297121
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IBA
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IDA	11953320, 16337599, 20061386, 23685073, 38182926, 38297121
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	20061386, 38297121
GO:0070936	Process	Protein K48-linked ubiquitination	IEA
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	20061386
GO:0070979	Process	Protein K11-linked ubiquitination	IEA
GO:1901526	Process	Positive regulation of mitophagy	IDA	23685073

MIM	HGNC	e!Ensembl
312180	12472	ENSG00000077721

P49459

Protein name

Ubiquitin-conjugating enzyme E2 A (EC 2.3.2.23) (E2 ubiquitin-conjugating enzyme A) (RAD6 homolog A) (HR6A) (hHR6A) (Ubiquitin carrier protein A) (Ubiquitin-protein ligase A)

Protein function

E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:20061386, PubMed:23685073, PubMed:25582440, PubMed:38297121). In vitro cata

PDB

6CYO , 6CYR , 8BTL , 8IEJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00179	UQ_con	8 → 145	Ubiquitin-conjugating enzyme	Domain

Sequence

MSTPARRRLMRDFKRLQEDPPAGVSGAPSENNIMVWNAVIFGPEGTPFEDGTFKLTIEFT
EEYPNKPPTVRFVSKMFHPNVYADGSICLDILQNRWSPTYDVSSILTSIQSLLDEPNPNS
PANSQAAQLYQENKREYEKRVSAIVEQSWRDC

Sequence length

152

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis		Synthesis of active ubiquitin: roles of E1 and E2 enzymes E3 ubiquitin ligases ubiquitinate target proteins 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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs2053457413	RCV005626339	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2147373019	RCV002274387	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2520620698, rs1556235612	RCV005933658 RCV005901201	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Nascimento type	Likely pathogenic; Pathogenic	rs2147382084, rs104894952, rs2520659812, rs2520655961, rs2520620698, rs387906728, rs1556235551, rs1556244406, rs1603308066, rs2053457413, rs2053456972, rs2053457643	RCV001808185 RCV000010600 RCV003313753 RCV003984942 RCV004595116 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

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.
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UBE2A-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY NASCIMENTO TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE	—	Orphanet	★★★★★ ★★☆☆☆ 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
Agammaglobulinemia	Agammaglobulinemia	Pubtator	30179896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	30179896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	23471985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	36215154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	24053514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	25287747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	20339384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	30179896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Double Outlet Right Ventricle	Double Outlet Right Ventricle	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16909393, 20412111, 21108393, 23685073, 24053514, 24781758, 25287747, 28611923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	29283210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	29283210		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Foramen Ovale, Patent	Patent foramen ovale	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20339384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30179896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33673493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	24053514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22710419	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20339384, 23685073, 23783460, 25287747, 25582440, 29283210, 30531907, 31566921		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	23471985, 24053514, 24253858, 25582440, 25649377, 30179896, 30531907, 31566921, 33673493	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liver carcinoma	Liver carcinoma	BEFREE	29725449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	30802265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	BEFREE	24053514		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	21108393, 25287747		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31683936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31683936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20339384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	16909393, 20339384, 20412111		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	CLINGEN_DG	16909393, 20412111, 23685073, 24053514, 26476408, 28611923, 29283210		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	ORPHANET_DG	16909393		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	UNIPROT_DG	16909393, 20412111		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	30531907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32410217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	BEFREE	29283210		★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	16308470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patchy hypo- and hyperpigmentation	Patchy hypo- and hyperpigmentation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33673493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	24053514, 30179896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21108393, 24053514, 31566921		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	31566921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	31566921, 33673493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked intellectual disability, Nascimento type	Mental Retardation, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

UBE2A (ubiquitin conjugating enzyme E2 A)