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	1173
Gene name	Adaptor related protein complex 2 subunit mu 1
Gene symbol	AP2M1
Synonyms (NCBI Gene)	AP50CLAPM1MRD60mu2
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proto

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1577059692	C>T	Pathogenic	Missense variant, coding sequence variant

433

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miRTarBase ID	miRNA	Experiments	Reference
MIRT003232	hsa-miR-224-5p	Luciferase reporter assay	20065103
MIRT025242	hsa-miR-34a-5p	Proteomics	21566225
MIRT025242	hsa-miR-34a-5p	Proteomics	21566225
MIRT031416	hsa-miR-16-5p	Proteomics	18668040
MIRT046490	hsa-miR-15b-5p	CLASH	23622248
MIRT042462	hsa-miR-423-3p	CLASH	23622248
MIRT041965	hsa-miR-484	CLASH	23622248
MIRT036491	hsa-miR-1226-3p	CLASH	23622248
MIRT036371	hsa-miR-1229-3p	CLASH	23622248
MIRT481832	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT481831	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT481830	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT481829	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT481828	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481827	hsa-miR-5681a	PAR-CLIP	23592263
MIRT481826	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT481825	hsa-miR-4533	PAR-CLIP	23592263
MIRT481824	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT481823	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT481821	hsa-miR-4651	PAR-CLIP	23592263
MIRT481822	hsa-miR-608	PAR-CLIP	23592263
MIRT481819	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT481820	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT481818	hsa-miR-4701-5p	PAR-CLIP	23592263
MIRT481817	hsa-miR-588	PAR-CLIP	23592263
MIRT481816	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT481832	hsa-miR-140-3p	PAR-CLIP	23592263
MIRT481831	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT481830	hsa-miR-6750-5p	PAR-CLIP	23592263
MIRT481829	hsa-miR-6822-5p	PAR-CLIP	23592263
MIRT481828	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT481827	hsa-miR-5681a	PAR-CLIP	23592263
MIRT481826	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT481825	hsa-miR-4533	PAR-CLIP	23592263
MIRT481824	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT481823	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT481821	hsa-miR-4651	PAR-CLIP	23592263
MIRT481822	hsa-miR-608	PAR-CLIP	23592263
MIRT481819	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT481820	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT481818	hsa-miR-4701-5p	PAR-CLIP	23592263
MIRT481817	hsa-miR-588	PAR-CLIP	23592263
MIRT481816	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT787764	hsa-miR-138	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT787767	hsa-miR-19a	CLIP-seq
MIRT787768	hsa-miR-19b	CLIP-seq
MIRT787769	hsa-miR-22	CLIP-seq
MIRT787770	hsa-miR-224	CLIP-seq
MIRT787771	hsa-miR-3150a-3p	CLIP-seq
MIRT787772	hsa-miR-3175	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787774	hsa-miR-3177-5p	CLIP-seq
MIRT787775	hsa-miR-3184	CLIP-seq
MIRT787776	hsa-miR-3199	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT787778	hsa-miR-3646	CLIP-seq
MIRT787779	hsa-miR-3652	CLIP-seq
MIRT787780	hsa-miR-3654	CLIP-seq
MIRT787781	hsa-miR-3662	CLIP-seq
MIRT787782	hsa-miR-3689d	CLIP-seq
MIRT787783	hsa-miR-3690	CLIP-seq
MIRT787784	hsa-miR-3714	CLIP-seq
MIRT787785	hsa-miR-3921	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT787787	hsa-miR-3944-3p	CLIP-seq
MIRT787788	hsa-miR-423-5p	CLIP-seq
MIRT787789	hsa-miR-4260	CLIP-seq
MIRT787790	hsa-miR-4300	CLIP-seq
MIRT787791	hsa-miR-4417	CLIP-seq
MIRT787792	hsa-miR-4430	CLIP-seq
MIRT787793	hsa-miR-4492	CLIP-seq
MIRT787794	hsa-miR-4498	CLIP-seq
MIRT787795	hsa-miR-4505	CLIP-seq
MIRT787796	hsa-miR-4535	CLIP-seq
MIRT787797	hsa-miR-4649-3p	CLIP-seq
MIRT787798	hsa-miR-4653-5p	CLIP-seq
MIRT787799	hsa-miR-4667-5p	CLIP-seq
MIRT787800	hsa-miR-4688	CLIP-seq
MIRT787801	hsa-miR-4698	CLIP-seq
MIRT787802	hsa-miR-4700-5p	CLIP-seq
MIRT787803	hsa-miR-4710	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT787805	hsa-miR-4731-5p	CLIP-seq
MIRT787806	hsa-miR-4740-5p	CLIP-seq
MIRT787807	hsa-miR-492	CLIP-seq
MIRT787808	hsa-miR-518a-5p	CLIP-seq
MIRT787809	hsa-miR-527	CLIP-seq
MIRT787810	hsa-miR-541	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787812	hsa-miR-545	CLIP-seq
MIRT787813	hsa-miR-548q	CLIP-seq
MIRT787814	hsa-miR-582-3p	CLIP-seq
MIRT787815	hsa-miR-619	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT787817	hsa-miR-762	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT787820	hsa-miR-920	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq
MIRT787822	hsa-miR-127-5p	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT787770	hsa-miR-224	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787774	hsa-miR-3177-5p	CLIP-seq
MIRT787778	hsa-miR-3646	CLIP-seq
MIRT787780	hsa-miR-3654	CLIP-seq
MIRT787781	hsa-miR-3662	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT787801	hsa-miR-4698	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787814	hsa-miR-582-3p	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT1555961	hsa-miR-147	CLIP-seq
MIRT1555962	hsa-miR-644	CLIP-seq
MIRT787822	hsa-miR-127-5p	CLIP-seq
MIRT1555961	hsa-miR-147	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT1932304	hsa-miR-2054	CLIP-seq
MIRT787769	hsa-miR-22	CLIP-seq
MIRT787770	hsa-miR-224	CLIP-seq
MIRT1932305	hsa-miR-2278	CLIP-seq
MIRT787771	hsa-miR-3150a-3p	CLIP-seq
MIRT1932306	hsa-miR-3156-3p	CLIP-seq
MIRT787772	hsa-miR-3175	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787774	hsa-miR-3177-5p	CLIP-seq
MIRT787775	hsa-miR-3184	CLIP-seq
MIRT787776	hsa-miR-3199	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT1932307	hsa-miR-331-3p	CLIP-seq
MIRT1932308	hsa-miR-342-3p	CLIP-seq
MIRT787778	hsa-miR-3646	CLIP-seq
MIRT787779	hsa-miR-3652	CLIP-seq
MIRT787780	hsa-miR-3654	CLIP-seq
MIRT787781	hsa-miR-3662	CLIP-seq
MIRT787782	hsa-miR-3689d	CLIP-seq
MIRT787783	hsa-miR-3690	CLIP-seq
MIRT787785	hsa-miR-3921	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT1932309	hsa-miR-3940-5p	CLIP-seq
MIRT787787	hsa-miR-3944-3p	CLIP-seq
MIRT787788	hsa-miR-423-5p	CLIP-seq
MIRT787789	hsa-miR-4260	CLIP-seq
MIRT787790	hsa-miR-4300	CLIP-seq
MIRT1932310	hsa-miR-4301	CLIP-seq
MIRT787791	hsa-miR-4417	CLIP-seq
MIRT787792	hsa-miR-4430	CLIP-seq
MIRT787795	hsa-miR-4505	CLIP-seq
MIRT1932311	hsa-miR-4507	CLIP-seq
MIRT787796	hsa-miR-4535	CLIP-seq
MIRT787797	hsa-miR-4649-3p	CLIP-seq
MIRT787798	hsa-miR-4653-5p	CLIP-seq
MIRT787799	hsa-miR-4667-5p	CLIP-seq
MIRT787800	hsa-miR-4688	CLIP-seq
MIRT787801	hsa-miR-4698	CLIP-seq
MIRT787802	hsa-miR-4700-5p	CLIP-seq
MIRT787803	hsa-miR-4710	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT787805	hsa-miR-4731-5p	CLIP-seq
MIRT1932312	hsa-miR-4733-5p	CLIP-seq
MIRT787806	hsa-miR-4740-5p	CLIP-seq
MIRT1932313	hsa-miR-4746-5p	CLIP-seq
MIRT787807	hsa-miR-492	CLIP-seq
MIRT787810	hsa-miR-541	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787814	hsa-miR-582-3p	CLIP-seq
MIRT787815	hsa-miR-619	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT1932314	hsa-miR-629	CLIP-seq
MIRT1555962	hsa-miR-644	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT787820	hsa-miR-920	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT2172694	hsa-miR-1252	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT787770	hsa-miR-224	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787774	hsa-miR-3177-5p	CLIP-seq
MIRT787780	hsa-miR-3654	CLIP-seq
MIRT787781	hsa-miR-3662	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT1932309	hsa-miR-3940-5p	CLIP-seq
MIRT1932311	hsa-miR-4507	CLIP-seq
MIRT787801	hsa-miR-4698	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT2172695	hsa-miR-4797-5p	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787814	hsa-miR-582-3p	CLIP-seq
MIRT1932314	hsa-miR-629	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT787769	hsa-miR-22	CLIP-seq
MIRT787771	hsa-miR-3150a-3p	CLIP-seq
MIRT787772	hsa-miR-3175	CLIP-seq
MIRT787779	hsa-miR-3652	CLIP-seq
MIRT787782	hsa-miR-3689d	CLIP-seq
MIRT787783	hsa-miR-3690	CLIP-seq
MIRT787791	hsa-miR-4417	CLIP-seq
MIRT787792	hsa-miR-4430	CLIP-seq
MIRT787795	hsa-miR-4505	CLIP-seq
MIRT787796	hsa-miR-4535	CLIP-seq
MIRT787799	hsa-miR-4667-5p	CLIP-seq
MIRT787802	hsa-miR-4700-5p	CLIP-seq
MIRT787805	hsa-miR-4731-5p	CLIP-seq
MIRT787807	hsa-miR-492	CLIP-seq
MIRT787810	hsa-miR-541	CLIP-seq
MIRT787815	hsa-miR-619	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq
MIRT2435413	hsa-miR-1193	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT1932304	hsa-miR-2054	CLIP-seq
MIRT2435414	hsa-miR-218	CLIP-seq
MIRT1932305	hsa-miR-2278	CLIP-seq
MIRT1932306	hsa-miR-3156-3p	CLIP-seq
MIRT2435415	hsa-miR-3165	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787775	hsa-miR-3184	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT1932307	hsa-miR-331-3p	CLIP-seq
MIRT2435416	hsa-miR-3691-5p	CLIP-seq
MIRT787785	hsa-miR-3921	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT787788	hsa-miR-423-5p	CLIP-seq
MIRT787789	hsa-miR-4260	CLIP-seq
MIRT787790	hsa-miR-4300	CLIP-seq
MIRT1932310	hsa-miR-4301	CLIP-seq
MIRT787797	hsa-miR-4649-3p	CLIP-seq
MIRT787798	hsa-miR-4653-5p	CLIP-seq
MIRT787800	hsa-miR-4688	CLIP-seq
MIRT787803	hsa-miR-4710	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT1932312	hsa-miR-4733-5p	CLIP-seq
MIRT1932313	hsa-miR-4746-5p	CLIP-seq
MIRT2435417	hsa-miR-508-5p	CLIP-seq
MIRT2435418	hsa-miR-520a-5p	CLIP-seq
MIRT2435419	hsa-miR-525-5p	CLIP-seq
MIRT2435420	hsa-miR-532-3p	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT2435421	hsa-miR-552	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT2435422	hsa-miR-636	CLIP-seq
MIRT2435423	hsa-miR-663b	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT787820	hsa-miR-920	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT1932312	hsa-miR-4733-5p	CLIP-seq
MIRT2435413	hsa-miR-1193	CLIP-seq
MIRT2475692	hsa-miR-1224-3p	CLIP-seq
MIRT2172694	hsa-miR-1252	CLIP-seq
MIRT2475693	hsa-miR-1256	CLIP-seq
MIRT2475694	hsa-miR-1295	CLIP-seq
MIRT2475695	hsa-miR-1324	CLIP-seq
MIRT2475696	hsa-miR-133a	CLIP-seq
MIRT2475697	hsa-miR-133b	CLIP-seq
MIRT787764	hsa-miR-138	CLIP-seq
MIRT1555961	hsa-miR-147	CLIP-seq
MIRT2475698	hsa-miR-1915	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT787767	hsa-miR-19a	CLIP-seq
MIRT787768	hsa-miR-19b	CLIP-seq
MIRT1932304	hsa-miR-2054	CLIP-seq
MIRT2435414	hsa-miR-218	CLIP-seq
MIRT787769	hsa-miR-22	CLIP-seq
MIRT1932305	hsa-miR-2278	CLIP-seq
MIRT2475699	hsa-miR-3119	CLIP-seq
MIRT2475700	hsa-miR-3136-3p	CLIP-seq
MIRT787771	hsa-miR-3150a-3p	CLIP-seq
MIRT1932306	hsa-miR-3156-3p	CLIP-seq
MIRT2435415	hsa-miR-3165	CLIP-seq
MIRT787772	hsa-miR-3175	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787775	hsa-miR-3184	CLIP-seq
MIRT787776	hsa-miR-3199	CLIP-seq
MIRT2475701	hsa-miR-328	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT1932307	hsa-miR-331-3p	CLIP-seq
MIRT787779	hsa-miR-3652	CLIP-seq
MIRT787782	hsa-miR-3689d	CLIP-seq
MIRT787783	hsa-miR-3690	CLIP-seq
MIRT2435416	hsa-miR-3691-5p	CLIP-seq
MIRT787784	hsa-miR-3714	CLIP-seq
MIRT787785	hsa-miR-3921	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT787787	hsa-miR-3944-3p	CLIP-seq
MIRT787788	hsa-miR-423-5p	CLIP-seq
MIRT787789	hsa-miR-4260	CLIP-seq
MIRT2475702	hsa-miR-4270	CLIP-seq
MIRT787790	hsa-miR-4300	CLIP-seq
MIRT1932310	hsa-miR-4301	CLIP-seq
MIRT787791	hsa-miR-4417	CLIP-seq
MIRT787792	hsa-miR-4430	CLIP-seq
MIRT2475703	hsa-miR-4436a	CLIP-seq
MIRT2475704	hsa-miR-4441	CLIP-seq
MIRT787793	hsa-miR-4492	CLIP-seq
MIRT787794	hsa-miR-4498	CLIP-seq
MIRT787795	hsa-miR-4505	CLIP-seq
MIRT787796	hsa-miR-4535	CLIP-seq
MIRT787797	hsa-miR-4649-3p	CLIP-seq
MIRT787798	hsa-miR-4653-5p	CLIP-seq
MIRT787799	hsa-miR-4667-5p	CLIP-seq
MIRT787800	hsa-miR-4688	CLIP-seq
MIRT787802	hsa-miR-4700-5p	CLIP-seq
MIRT787803	hsa-miR-4710	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT2475705	hsa-miR-4717-5p	CLIP-seq
MIRT2475706	hsa-miR-4720-5p	CLIP-seq
MIRT787805	hsa-miR-4731-5p	CLIP-seq
MIRT1932312	hsa-miR-4733-5p	CLIP-seq
MIRT787806	hsa-miR-4740-5p	CLIP-seq
MIRT1932313	hsa-miR-4746-5p	CLIP-seq
MIRT2475707	hsa-miR-4799-3p	CLIP-seq
MIRT787807	hsa-miR-492	CLIP-seq
MIRT2435417	hsa-miR-508-5p	CLIP-seq
MIRT787808	hsa-miR-518a-5p	CLIP-seq
MIRT2435418	hsa-miR-520a-5p	CLIP-seq
MIRT2435419	hsa-miR-525-5p	CLIP-seq
MIRT787809	hsa-miR-527	CLIP-seq
MIRT2435420	hsa-miR-532-3p	CLIP-seq
MIRT787810	hsa-miR-541	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787812	hsa-miR-545	CLIP-seq
MIRT787813	hsa-miR-548q	CLIP-seq
MIRT2435421	hsa-miR-552	CLIP-seq
MIRT787815	hsa-miR-619	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT2435422	hsa-miR-636	CLIP-seq
MIRT1555962	hsa-miR-644	CLIP-seq
MIRT2435423	hsa-miR-663b	CLIP-seq
MIRT787817	hsa-miR-762	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT2475708	hsa-miR-9	CLIP-seq
MIRT787820	hsa-miR-920	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq
MIRT2435413	hsa-miR-1193	CLIP-seq
MIRT2475692	hsa-miR-1224-3p	CLIP-seq
MIRT2172694	hsa-miR-1252	CLIP-seq
MIRT2475693	hsa-miR-1256	CLIP-seq
MIRT2475694	hsa-miR-1295	CLIP-seq
MIRT2475696	hsa-miR-133a	CLIP-seq
MIRT2475697	hsa-miR-133b	CLIP-seq
MIRT787764	hsa-miR-138	CLIP-seq
MIRT1555961	hsa-miR-147	CLIP-seq
MIRT2475698	hsa-miR-1915	CLIP-seq
MIRT787765	hsa-miR-193a-3p	CLIP-seq
MIRT787766	hsa-miR-193b	CLIP-seq
MIRT787767	hsa-miR-19a	CLIP-seq
MIRT787768	hsa-miR-19b	CLIP-seq
MIRT1932304	hsa-miR-2054	CLIP-seq
MIRT2435414	hsa-miR-218	CLIP-seq
MIRT1932305	hsa-miR-2278	CLIP-seq
MIRT2475699	hsa-miR-3119	CLIP-seq
MIRT2475700	hsa-miR-3136-3p	CLIP-seq
MIRT787771	hsa-miR-3150a-3p	CLIP-seq
MIRT1932306	hsa-miR-3156-3p	CLIP-seq
MIRT2435415	hsa-miR-3165	CLIP-seq
MIRT787772	hsa-miR-3175	CLIP-seq
MIRT787773	hsa-miR-3176	CLIP-seq
MIRT787775	hsa-miR-3184	CLIP-seq
MIRT787776	hsa-miR-3199	CLIP-seq
MIRT2475701	hsa-miR-328	CLIP-seq
MIRT787777	hsa-miR-330-3p	CLIP-seq
MIRT1932307	hsa-miR-331-3p	CLIP-seq
MIRT787779	hsa-miR-3652	CLIP-seq
MIRT787783	hsa-miR-3690	CLIP-seq
MIRT2435416	hsa-miR-3691-5p	CLIP-seq
MIRT787784	hsa-miR-3714	CLIP-seq
MIRT787785	hsa-miR-3921	CLIP-seq
MIRT787786	hsa-miR-3922-3p	CLIP-seq
MIRT787787	hsa-miR-3944-3p	CLIP-seq
MIRT787788	hsa-miR-423-5p	CLIP-seq
MIRT787789	hsa-miR-4260	CLIP-seq
MIRT2475702	hsa-miR-4270	CLIP-seq
MIRT787790	hsa-miR-4300	CLIP-seq
MIRT1932310	hsa-miR-4301	CLIP-seq
MIRT787792	hsa-miR-4430	CLIP-seq
MIRT2475703	hsa-miR-4436a	CLIP-seq
MIRT2475704	hsa-miR-4441	CLIP-seq
MIRT787793	hsa-miR-4492	CLIP-seq
MIRT787794	hsa-miR-4498	CLIP-seq
MIRT787795	hsa-miR-4505	CLIP-seq
MIRT787796	hsa-miR-4535	CLIP-seq
MIRT787797	hsa-miR-4649-3p	CLIP-seq
MIRT787798	hsa-miR-4653-5p	CLIP-seq
MIRT787799	hsa-miR-4667-5p	CLIP-seq
MIRT787800	hsa-miR-4688	CLIP-seq
MIRT787802	hsa-miR-4700-5p	CLIP-seq
MIRT787803	hsa-miR-4710	CLIP-seq
MIRT787804	hsa-miR-4713-3p	CLIP-seq
MIRT2475705	hsa-miR-4717-5p	CLIP-seq
MIRT2475706	hsa-miR-4720-5p	CLIP-seq
MIRT787805	hsa-miR-4731-5p	CLIP-seq
MIRT1932312	hsa-miR-4733-5p	CLIP-seq
MIRT787806	hsa-miR-4740-5p	CLIP-seq
MIRT1932313	hsa-miR-4746-5p	CLIP-seq
MIRT2475707	hsa-miR-4799-3p	CLIP-seq
MIRT787807	hsa-miR-492	CLIP-seq
MIRT2435417	hsa-miR-508-5p	CLIP-seq
MIRT787808	hsa-miR-518a-5p	CLIP-seq
MIRT2435418	hsa-miR-520a-5p	CLIP-seq
MIRT2435419	hsa-miR-525-5p	CLIP-seq
MIRT787809	hsa-miR-527	CLIP-seq
MIRT2435420	hsa-miR-532-3p	CLIP-seq
MIRT787810	hsa-miR-541	CLIP-seq
MIRT787811	hsa-miR-542-5p	CLIP-seq
MIRT787812	hsa-miR-545	CLIP-seq
MIRT787813	hsa-miR-548q	CLIP-seq
MIRT2435421	hsa-miR-552	CLIP-seq
MIRT787815	hsa-miR-619	CLIP-seq
MIRT787816	hsa-miR-625	CLIP-seq
MIRT2435422	hsa-miR-636	CLIP-seq
MIRT1555962	hsa-miR-644	CLIP-seq
MIRT2435423	hsa-miR-663b	CLIP-seq
MIRT787817	hsa-miR-762	CLIP-seq
MIRT787818	hsa-miR-885-5p	CLIP-seq
MIRT787819	hsa-miR-892b	CLIP-seq
MIRT2475708	hsa-miR-9	CLIP-seq
MIRT787820	hsa-miR-920	CLIP-seq
MIRT787821	hsa-miR-939	CLIP-seq

Show/Hide all (62)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0005048	Function	Signal sequence binding	IDA	8918456, 9171339
GO:0005048	Function	Signal sequence binding	IEA
GO:0005515	Function	Protein binding	IPI	12032142, 16189514, 19419997, 20029029, 21653829, 22916011, 23676497, 24189400, 24603492, 30021884, 31515488, 31980649, 32296183, 33436498, 33961781, 34799561, 34964704, 35271311, 35384245, 37100772, 37219487, 39251607
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IDA	31104773
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006900	Process	Vesicle budding from membrane	IMP	25898166
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	NAS	29184887
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	15941406
GO:0030122	Component	AP-2 adaptor complex	IBA
GO:0030122	Component	AP-2 adaptor complex	IDA	23676497
GO:0030122	Component	AP-2 adaptor complex	IEA
GO:0030122	Component	AP-2 adaptor complex	NAS	12086608
GO:0030122	Component	AP-2 adaptor complex	TAS	12121421
GO:0030131	Component	Clathrin adaptor complex	IEA
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031623	Process	Receptor internalization	IEA
GO:0031623	Process	Receptor internalization	IMP	25898166
GO:0035615	Function	Clathrin adaptor activity	IBA
GO:0035615	Function	Clathrin adaptor activity	TAS	12121421
GO:0036020	Component	Endolysosome membrane	TAS
GO:0044325	Function	Transmembrane transporter binding	IPI	23529131
GO:0045202	Component	Synapse	IEA
GO:0045334	Component	Clathrin-coated endocytic vesicle	NAS	25898166
GO:0048488	Process	Synaptic vesicle endocytosis	IDA	11102472
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IMP	11102472
GO:0048488	Process	Synaptic vesicle endocytosis	NAS	11102472
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0065003	Process	Protein-containing complex assembly	TAS	7989329
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0072583	Process	Clathrin-dependent endocytosis	IBA
GO:0072583	Process	Clathrin-dependent endocytosis	IDA	23676497, 31104773
GO:0072583	Process	Clathrin-dependent endocytosis	IEA
GO:0072583	Process	Clathrin-dependent endocytosis	NAS	29184887
GO:0072583	Process	Clathrin-dependent endocytosis	TAS	12121421
GO:0097494	Process	Regulation of vesicle size	IMP	25898166
GO:0097718	Function	Disordered domain specific binding	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098884	Process	Postsynaptic neurotransmitter receptor internalization	IEA
GO:0098884	Process	Postsynaptic neurotransmitter receptor internalization	NAS	31671891
GO:0098894	Component	Extrinsic component of presynaptic endocytic zone membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099003	Process	Vesicle-mediated transport in synapse	IEA
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IEA
GO:1903077	Process	Negative regulation of protein localization to plasma membrane	IMP	19581412

MIM	HGNC	e!Ensembl
601024	564	ENSG00000161203

Q96CW1

Protein name

AP-2 complex subunit mu (AP-2 mu chain) (Adaptin-mu2) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-assoc

Protein function

Component of the adaptor protein complex 2 (AP-2) (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes function in protein transport via transport vesicles in different

PDB

1H6E , 6BNT , 6URI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01217	Clat_adaptor_s	1 → 137	Clathrin adaptor complex small chain	Domain
PF00928	Adap_comp_sub	159 → 435	Adaptor complexes medium subunit family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain (at protein level). {ECO:0000269|PubMed:23676497}.

Sequence

MIGGLFIYNHKGEVLISRVYRDDIGRNAVDAFRVNVIHARQQVRSPVTNIARTSFFHVKR
SNIWLAAVTKQNVNAAMVFEFLYKMCDVMAAYFGKISEENIKNNFVLIYELLDEILDFGY
PQNSETGALKTFITQQGIKSQHQTKEEQSQITSQVTGQIGWRREGIKYRRNELFLDVLES
VNLLMSPQGQVLSAHVSGRVVMKSYLSGMPECKFGMNDKIVIEKQGKGTADETSKSGKQS
IAIDDCTFHQCVRLSKFDSERSISFIPPDGEFELMRYRTTKDIILPFRVIPLVREVGRTK
LEVKVVIKSNFKPSLLAQKIEVRIPTPLNTSGVQVICMKGKAKYKASENAIVWKIKRMAG
MKESQISAEIELLPTNDKKKWARPPISMNFEVPFAPSGLKVRYLKVFEPKLNYSDHDVIK
WVRYIGRSGIYETRC

Sequence length

435

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption Huntington disease		Nef mediated downregulation of CD28 cell surface expression Nef Mediated CD4 Down-regulation Retrograde neurotrophin signalling Nef Mediated CD8 Down-regulation Gap junction degradation Formation of annular gap junctions MHC class II antigen presentation EPH-ephrin mediated repulsion of cells Trafficking of GluR2-containing AMPA receptors Recycling pathway of L1 WNT5A-dependent internalization of FZD4 WNT5A-dependent internalization of FZD2, FZD5 and ROR2 Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis VLDLR internalisation and degradation LDL clearance

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder 60 with seizures	Likely pathogenic; Pathogenic	rs1577059692	RCV000850490

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
AP2M1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs13262, rs8478, rs2231224, rs372570685, rs2231216, rs766817198, rs118022228, rs115561047	RCV003921175 RCV003980688 RCV003980689 RCV004731198 RCV003978765 RCV003901013 RCV003976593 RCV003920762
Complex neurodevelopmental disorder	Uncertain significance	rs774293277	RCV005361763
Neurodevelopmental disorder	Uncertain significance	rs2109029641	RCV001374938
See cases	Uncertain significance	rs761946127	RCV002252575

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Colorectal Neoplasms	Associate	36510452
Mast Cell Activation Disorders	Associate	35610596
Squamous Cell Carcinoma of Head and Neck	Associate	35610596

AP2M1 (adaptor related protein complex 2 subunit mu 1)