AAGAB (alpha and gamma adaptin binding protein)

Gene

• Entrez ID: 79719
• Gene name: Alpha and gamma adaptin binding protein
• Gene symbol: AAGAB
• Synonyms (NCBI Gene): KPPP1, PPKP1, PPKP1A, p34
• Chromosome: 15
• Chromosome location: 15q23
• Summary: The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs200564757	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs746488412	G>A	Pathogenic	Stop gained, coding sequence variant
rs753247583	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs781596375	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518846	C>A,G	Likely-pathogenic	Splice donor variant
rs1567027297	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567027610	GAAA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049395	hsa-miR-92a-3p	CLASH	23622248
MIRT038743	hsa-miR-93-3p	CLASH	23622248
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT669718	hsa-miR-548ac	HITS-CLIP	23824327
MIRT669717	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT669716	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT669715	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT669714	hsa-miR-548z	HITS-CLIP	23824327
MIRT669713	hsa-miR-548aa	HITS-CLIP	23824327
MIRT669712	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT669711	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT669710	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT669709	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT624899	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT624898	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT624897	hsa-miR-507	HITS-CLIP	23824327
MIRT624896	hsa-miR-557	HITS-CLIP	23824327
MIRT624895	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT624894	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT669718	hsa-miR-548ac	HITS-CLIP	23824327
MIRT669717	hsa-miR-548bb-3p	HITS-CLIP	23824327
MIRT669716	hsa-miR-548d-3p	HITS-CLIP	23824327
MIRT669715	hsa-miR-548h-3p	HITS-CLIP	23824327
MIRT669714	hsa-miR-548z	HITS-CLIP	23824327
MIRT669713	hsa-miR-548aa	HITS-CLIP	23824327
MIRT669712	hsa-miR-548ap-3p	HITS-CLIP	23824327
MIRT669711	hsa-miR-548t-3p	HITS-CLIP	23824327
MIRT669710	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT669709	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT624899	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT624898	hsa-miR-450b-5p	HITS-CLIP	23824327
MIRT624897	hsa-miR-507	HITS-CLIP	23824327
MIRT624896	hsa-miR-557	HITS-CLIP	23824327
MIRT624895	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT624894	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT624893	hsa-miR-548as-3p	HITS-CLIP	23824327
MIRT624892	hsa-miR-548at-3p	HITS-CLIP	23824327
MIRT624891	hsa-miR-548ay-3p	HITS-CLIP	23824327
MIRT624890	hsa-miR-651-3p	HITS-CLIP	23824327
MIRT624889	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT624888	hsa-miR-4477b	HITS-CLIP	23824327
MIRT624887	hsa-miR-4263	HITS-CLIP	23824327
MIRT624886	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT624885	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT756818	hsa-miR-1260	CLIP-seq
MIRT756819	hsa-miR-1260b	CLIP-seq
MIRT756820	hsa-miR-1271	CLIP-seq
MIRT756821	hsa-miR-1290	CLIP-seq
MIRT756822	hsa-miR-136	CLIP-seq
MIRT756823	hsa-miR-1587	CLIP-seq
MIRT756824	hsa-miR-182	CLIP-seq
MIRT756825	hsa-miR-1825	CLIP-seq
MIRT756826	hsa-miR-188-3p	CLIP-seq
MIRT756827	hsa-miR-18a	CLIP-seq
MIRT756828	hsa-miR-18b	CLIP-seq
MIRT756829	hsa-miR-198	CLIP-seq
MIRT756830	hsa-miR-199a-5p	CLIP-seq
MIRT756831	hsa-miR-199b-5p	CLIP-seq
MIRT756832	hsa-miR-202	CLIP-seq
MIRT756833	hsa-miR-2355-5p	CLIP-seq
MIRT756834	hsa-miR-28-5p	CLIP-seq
MIRT756835	hsa-miR-300	CLIP-seq
MIRT756836	hsa-miR-3121-5p	CLIP-seq
MIRT756837	hsa-miR-3136-3p	CLIP-seq
MIRT756838	hsa-miR-3139	CLIP-seq
MIRT756839	hsa-miR-3143	CLIP-seq
MIRT756840	hsa-miR-3144-5p	CLIP-seq
MIRT756841	hsa-miR-3150a-5p	CLIP-seq
MIRT756842	hsa-miR-3150b-5p	CLIP-seq
MIRT756843	hsa-miR-3152-5p	CLIP-seq
MIRT756844	hsa-miR-3156-3p	CLIP-seq
MIRT756845	hsa-miR-3161	CLIP-seq
MIRT756846	hsa-miR-3664-3p	CLIP-seq
MIRT756847	hsa-miR-3672	CLIP-seq
MIRT756848	hsa-miR-378g	CLIP-seq
MIRT756849	hsa-miR-381	CLIP-seq
MIRT756850	hsa-miR-3907	CLIP-seq
MIRT756851	hsa-miR-3919	CLIP-seq
MIRT756852	hsa-miR-3936	CLIP-seq
MIRT756853	hsa-miR-3974	CLIP-seq
MIRT756854	hsa-miR-3978	CLIP-seq
MIRT756855	hsa-miR-4255	CLIP-seq
MIRT756856	hsa-miR-4269	CLIP-seq
MIRT756857	hsa-miR-4279	CLIP-seq
MIRT756858	hsa-miR-4282	CLIP-seq
MIRT756859	hsa-miR-4286	CLIP-seq
MIRT756860	hsa-miR-4292	CLIP-seq
MIRT756861	hsa-miR-4301	CLIP-seq
MIRT756862	hsa-miR-4308	CLIP-seq
MIRT756863	hsa-miR-4329	CLIP-seq
MIRT756864	hsa-miR-4330	CLIP-seq
MIRT756865	hsa-miR-4470	CLIP-seq
MIRT756866	hsa-miR-4492	CLIP-seq
MIRT756867	hsa-miR-4498	CLIP-seq
MIRT756868	hsa-miR-4514	CLIP-seq
MIRT756869	hsa-miR-4517	CLIP-seq
MIRT756870	hsa-miR-4633-3p	CLIP-seq
MIRT756871	hsa-miR-4656	CLIP-seq
MIRT756872	hsa-miR-4659a-3p	CLIP-seq
MIRT756873	hsa-miR-4659b-3p	CLIP-seq
MIRT756874	hsa-miR-4665-3p	CLIP-seq
MIRT756875	hsa-miR-4675	CLIP-seq
MIRT756876	hsa-miR-4692	CLIP-seq
MIRT756877	hsa-miR-4735-3p	CLIP-seq
MIRT756878	hsa-miR-4741	CLIP-seq
MIRT756879	hsa-miR-4742-5p	CLIP-seq
MIRT756880	hsa-miR-4756-3p	CLIP-seq
MIRT756881	hsa-miR-4758-3p	CLIP-seq
MIRT756882	hsa-miR-4760-3p	CLIP-seq
MIRT756883	hsa-miR-4761-5p	CLIP-seq
MIRT756884	hsa-miR-4774-3p	CLIP-seq
MIRT756885	hsa-miR-500a	CLIP-seq
MIRT756886	hsa-miR-501-5p	CLIP-seq
MIRT756887	hsa-miR-543	CLIP-seq
MIRT756888	hsa-miR-548ae	CLIP-seq
MIRT756889	hsa-miR-548aj	CLIP-seq
MIRT756890	hsa-miR-548am	CLIP-seq
MIRT756891	hsa-miR-548x	CLIP-seq
MIRT756892	hsa-miR-621	CLIP-seq
MIRT756893	hsa-miR-624	CLIP-seq
MIRT756894	hsa-miR-670	CLIP-seq
MIRT756895	hsa-miR-7	CLIP-seq
MIRT756896	hsa-miR-708	CLIP-seq
MIRT756897	hsa-miR-762	CLIP-seq
MIRT756898	hsa-miR-873	CLIP-seq
MIRT756899	hsa-miR-875-3p	CLIP-seq
MIRT756900	hsa-miR-936	CLIP-seq
MIRT756901	hsa-miR-96	CLIP-seq
MIRT1555887	hsa-miR-1184	CLIP-seq
MIRT1555888	hsa-miR-1205	CLIP-seq
MIRT1555889	hsa-miR-1301	CLIP-seq
MIRT1555890	hsa-miR-22	CLIP-seq
MIRT1555891	hsa-miR-3158-5p	CLIP-seq
MIRT1555892	hsa-miR-4660	CLIP-seq
MIRT1555893	hsa-miR-5047	CLIP-seq
MIRT1555894	hsa-miR-544	CLIP-seq
MIRT1923177	hsa-miR-1208	CLIP-seq
MIRT756823	hsa-miR-1587	CLIP-seq
MIRT1923178	hsa-miR-196a	CLIP-seq
MIRT1923179	hsa-miR-196b	CLIP-seq
MIRT1923180	hsa-miR-1976	CLIP-seq
MIRT756832	hsa-miR-202	CLIP-seq
MIRT1555890	hsa-miR-22	CLIP-seq
MIRT1923181	hsa-miR-3119	CLIP-seq
MIRT756841	hsa-miR-3150a-5p	CLIP-seq
MIRT756842	hsa-miR-3150b-5p	CLIP-seq
MIRT1923182	hsa-miR-3160-3p	CLIP-seq
MIRT756845	hsa-miR-3161	CLIP-seq
MIRT1923183	hsa-miR-331-5p	CLIP-seq
MIRT1923184	hsa-miR-339-5p	CLIP-seq
MIRT1923185	hsa-miR-34c-3p	CLIP-seq
MIRT1923186	hsa-miR-3653	CLIP-seq
MIRT1923187	hsa-miR-3658	CLIP-seq
MIRT756847	hsa-miR-3672	CLIP-seq
MIRT1923188	hsa-miR-370	CLIP-seq
MIRT756851	hsa-miR-3919	CLIP-seq
MIRT1923189	hsa-miR-3925-3p	CLIP-seq
MIRT1923190	hsa-miR-3927	CLIP-seq
MIRT756856	hsa-miR-4269	CLIP-seq
MIRT756857	hsa-miR-4279	CLIP-seq
MIRT756863	hsa-miR-4329	CLIP-seq
MIRT756864	hsa-miR-4330	CLIP-seq
MIRT1923191	hsa-miR-4420	CLIP-seq
MIRT1923192	hsa-miR-4451	CLIP-seq
MIRT1923193	hsa-miR-4487	CLIP-seq
MIRT756866	hsa-miR-4492	CLIP-seq
MIRT756867	hsa-miR-4498	CLIP-seq
MIRT756868	hsa-miR-4514	CLIP-seq
MIRT1923194	hsa-miR-4540	CLIP-seq
MIRT756871	hsa-miR-4656	CLIP-seq
MIRT1923195	hsa-miR-4662a-3p	CLIP-seq
MIRT756875	hsa-miR-4675	CLIP-seq
MIRT756876	hsa-miR-4692	CLIP-seq
MIRT1923196	hsa-miR-4694-3p	CLIP-seq
MIRT1923197	hsa-miR-4704-3p	CLIP-seq
MIRT1923198	hsa-miR-4734	CLIP-seq
MIRT756878	hsa-miR-4741	CLIP-seq
MIRT1923199	hsa-miR-4742-3p	CLIP-seq
MIRT756879	hsa-miR-4742-5p	CLIP-seq
MIRT756880	hsa-miR-4756-3p	CLIP-seq
MIRT1923200	hsa-miR-4767	CLIP-seq
MIRT1923201	hsa-miR-483-3p	CLIP-seq
MIRT1923202	hsa-miR-522	CLIP-seq
MIRT756888	hsa-miR-548ae	CLIP-seq
MIRT756889	hsa-miR-548aj	CLIP-seq
MIRT756890	hsa-miR-548am	CLIP-seq
MIRT756891	hsa-miR-548x	CLIP-seq
MIRT1923203	hsa-miR-558	CLIP-seq
MIRT756892	hsa-miR-621	CLIP-seq
MIRT1923204	hsa-miR-630	CLIP-seq
MIRT1923205	hsa-miR-668	CLIP-seq
MIRT756897	hsa-miR-762	CLIP-seq
MIRT2164683	hsa-miR-1179	CLIP-seq
MIRT2164684	hsa-miR-1254	CLIP-seq
MIRT756820	hsa-miR-1271	CLIP-seq
MIRT2164685	hsa-miR-128	CLIP-seq
MIRT756823	hsa-miR-1587	CLIP-seq
MIRT756824	hsa-miR-182	CLIP-seq
MIRT2164686	hsa-miR-190	CLIP-seq
MIRT2164687	hsa-miR-190b	CLIP-seq
MIRT2164688	hsa-miR-27a	CLIP-seq
MIRT2164689	hsa-miR-27b	CLIP-seq
MIRT2164690	hsa-miR-3116	CLIP-seq
MIRT2164691	hsa-miR-3137	CLIP-seq
MIRT756845	hsa-miR-3161	CLIP-seq
MIRT2164692	hsa-miR-3616-3p	CLIP-seq
MIRT2164693	hsa-miR-3689d	CLIP-seq
MIRT2164694	hsa-miR-3692	CLIP-seq
MIRT756848	hsa-miR-378g	CLIP-seq
MIRT2164695	hsa-miR-4254	CLIP-seq
MIRT2164696	hsa-miR-4268	CLIP-seq
MIRT756856	hsa-miR-4269	CLIP-seq
MIRT2164697	hsa-miR-4436b-5p	CLIP-seq
MIRT2164698	hsa-miR-4448	CLIP-seq
MIRT756865	hsa-miR-4470	CLIP-seq
MIRT756866	hsa-miR-4492	CLIP-seq
MIRT756867	hsa-miR-4498	CLIP-seq
MIRT756868	hsa-miR-4514	CLIP-seq
MIRT756869	hsa-miR-4517	CLIP-seq
MIRT756871	hsa-miR-4656	CLIP-seq
MIRT756875	hsa-miR-4675	CLIP-seq
MIRT756876	hsa-miR-4692	CLIP-seq
MIRT2164699	hsa-miR-4721	CLIP-seq
MIRT756878	hsa-miR-4741	CLIP-seq
MIRT756879	hsa-miR-4742-5p	CLIP-seq
MIRT1555894	hsa-miR-544	CLIP-seq
MIRT756897	hsa-miR-762	CLIP-seq
MIRT2164700	hsa-miR-767-3p	CLIP-seq
MIRT756901	hsa-miR-96	CLIP-seq
MIRT2466465	hsa-miR-103b	CLIP-seq
MIRT1555887	hsa-miR-1184	CLIP-seq
MIRT1555888	hsa-miR-1205	CLIP-seq
MIRT1923177	hsa-miR-1208	CLIP-seq
MIRT2466466	hsa-miR-1238	CLIP-seq
MIRT2164684	hsa-miR-1254	CLIP-seq
MIRT2466467	hsa-miR-1257	CLIP-seq
MIRT756818	hsa-miR-1260	CLIP-seq
MIRT756819	hsa-miR-1260b	CLIP-seq
MIRT2466468	hsa-miR-1287	CLIP-seq
MIRT1555889	hsa-miR-1301	CLIP-seq
MIRT756822	hsa-miR-136	CLIP-seq
MIRT2466469	hsa-miR-150	CLIP-seq
MIRT2466470	hsa-miR-186	CLIP-seq
MIRT756826	hsa-miR-188-3p	CLIP-seq
MIRT756827	hsa-miR-18a	CLIP-seq
MIRT756828	hsa-miR-18b	CLIP-seq
MIRT2466471	hsa-miR-199a-3p	CLIP-seq
MIRT2466472	hsa-miR-199b-3p	CLIP-seq
MIRT2466473	hsa-miR-2117	CLIP-seq
MIRT1555890	hsa-miR-22	CLIP-seq
MIRT756834	hsa-miR-28-5p	CLIP-seq
MIRT756835	hsa-miR-300	CLIP-seq
MIRT2164690	hsa-miR-3116	CLIP-seq
MIRT756836	hsa-miR-3121-5p	CLIP-seq
MIRT2466474	hsa-miR-3124-3p	CLIP-seq
MIRT2466475	hsa-miR-3129-5p	CLIP-seq
MIRT2466476	hsa-miR-3133	CLIP-seq
MIRT2466477	hsa-miR-3135b	CLIP-seq
MIRT756837	hsa-miR-3136-3p	CLIP-seq
MIRT756838	hsa-miR-3139	CLIP-seq
MIRT756840	hsa-miR-3144-5p	CLIP-seq
MIRT2466478	hsa-miR-3148	CLIP-seq
MIRT756841	hsa-miR-3150a-5p	CLIP-seq
MIRT756842	hsa-miR-3150b-5p	CLIP-seq
MIRT756843	hsa-miR-3152-5p	CLIP-seq
MIRT756844	hsa-miR-3156-3p	CLIP-seq
MIRT1555891	hsa-miR-3158-5p	CLIP-seq
MIRT756845	hsa-miR-3161	CLIP-seq
MIRT2466479	hsa-miR-3202	CLIP-seq
MIRT2466480	hsa-miR-323b-5p	CLIP-seq
MIRT2466481	hsa-miR-338-5p	CLIP-seq
MIRT1923185	hsa-miR-34c-3p	CLIP-seq
MIRT2466482	hsa-miR-3613-3p	CLIP-seq
MIRT2466483	hsa-miR-361-3p	CLIP-seq
MIRT1923186	hsa-miR-3653	CLIP-seq
MIRT1923187	hsa-miR-3658	CLIP-seq
MIRT756846	hsa-miR-3664-3p	CLIP-seq
MIRT756847	hsa-miR-3672	CLIP-seq
MIRT2164693	hsa-miR-3689d	CLIP-seq
MIRT2466484	hsa-miR-371-5p	CLIP-seq
MIRT2466485	hsa-miR-377	CLIP-seq
MIRT756849	hsa-miR-381	CLIP-seq
MIRT2466486	hsa-miR-384	CLIP-seq
MIRT756850	hsa-miR-3907	CLIP-seq
MIRT2466487	hsa-miR-3915	CLIP-seq
MIRT2466488	hsa-miR-3921	CLIP-seq
MIRT2466489	hsa-miR-3928	CLIP-seq
MIRT756852	hsa-miR-3936	CLIP-seq
MIRT2466490	hsa-miR-3944-5p	CLIP-seq
MIRT2466491	hsa-miR-4251	CLIP-seq
MIRT2164695	hsa-miR-4254	CLIP-seq
MIRT756856	hsa-miR-4269	CLIP-seq
MIRT756857	hsa-miR-4279	CLIP-seq
MIRT756858	hsa-miR-4282	CLIP-seq
MIRT756861	hsa-miR-4301	CLIP-seq
MIRT756863	hsa-miR-4329	CLIP-seq
MIRT2466492	hsa-miR-4422	CLIP-seq
MIRT2466493	hsa-miR-4434	CLIP-seq
MIRT2466494	hsa-miR-4436b-3p	CLIP-seq
MIRT2466495	hsa-miR-4438	CLIP-seq
MIRT2164698	hsa-miR-4448	CLIP-seq
MIRT756868	hsa-miR-4514	CLIP-seq
MIRT2466496	hsa-miR-4516	CLIP-seq
MIRT2466497	hsa-miR-4531	CLIP-seq
MIRT2466498	hsa-miR-4533	CLIP-seq
MIRT1923194	hsa-miR-4540	CLIP-seq
MIRT756870	hsa-miR-4633-3p	CLIP-seq
MIRT2466499	hsa-miR-4639-3p	CLIP-seq
MIRT2466500	hsa-miR-4653-5p	CLIP-seq
MIRT756872	hsa-miR-4659a-3p	CLIP-seq
MIRT756873	hsa-miR-4659b-3p	CLIP-seq
MIRT1555892	hsa-miR-4660	CLIP-seq
MIRT1923195	hsa-miR-4662a-3p	CLIP-seq
MIRT756874	hsa-miR-4665-3p	CLIP-seq
MIRT2466501	hsa-miR-4691-5p	CLIP-seq
MIRT756876	hsa-miR-4692	CLIP-seq
MIRT2466502	hsa-miR-4729	CLIP-seq
MIRT756877	hsa-miR-4735-3p	CLIP-seq
MIRT1923199	hsa-miR-4742-3p	CLIP-seq
MIRT756879	hsa-miR-4742-5p	CLIP-seq
MIRT756881	hsa-miR-4758-3p	CLIP-seq
MIRT756882	hsa-miR-4760-3p	CLIP-seq
MIRT756883	hsa-miR-4761-5p	CLIP-seq
MIRT2466503	hsa-miR-4768-5p	CLIP-seq
MIRT2466504	hsa-miR-4773	CLIP-seq
MIRT756884	hsa-miR-4774-3p	CLIP-seq
MIRT2466505	hsa-miR-4790-3p	CLIP-seq
MIRT2466506	hsa-miR-4797-3p	CLIP-seq
MIRT2466507	hsa-miR-4803	CLIP-seq
MIRT756885	hsa-miR-500a	CLIP-seq
MIRT756886	hsa-miR-501-5p	CLIP-seq
MIRT1555893	hsa-miR-5047	CLIP-seq
MIRT2466508	hsa-miR-5095	CLIP-seq
MIRT2466509	hsa-miR-511	CLIP-seq
MIRT1555894	hsa-miR-544	CLIP-seq
MIRT756888	hsa-miR-548ae	CLIP-seq
MIRT756889	hsa-miR-548aj	CLIP-seq
MIRT756890	hsa-miR-548am	CLIP-seq
MIRT2466510	hsa-miR-548l	CLIP-seq
MIRT2466511	hsa-miR-548n	CLIP-seq
MIRT756891	hsa-miR-548x	CLIP-seq
MIRT2466512	hsa-miR-556-3p	CLIP-seq
MIRT2466513	hsa-miR-563	CLIP-seq
MIRT2466514	hsa-miR-582-5p	CLIP-seq
MIRT2466515	hsa-miR-595	CLIP-seq
MIRT2466516	hsa-miR-600	CLIP-seq
MIRT756893	hsa-miR-624	CLIP-seq
MIRT1923204	hsa-miR-630	CLIP-seq
MIRT2466517	hsa-miR-642b	CLIP-seq
MIRT756895	hsa-miR-7	CLIP-seq
MIRT756896	hsa-miR-708	CLIP-seq
MIRT756898	hsa-miR-873	CLIP-seq
MIRT756899	hsa-miR-875-3p	CLIP-seq
MIRT2466518	hsa-miR-888	CLIP-seq
MIRT756900	hsa-miR-936	CLIP-seq
MIRT2466465	hsa-miR-103b	CLIP-seq
MIRT1555887	hsa-miR-1184	CLIP-seq
MIRT1555888	hsa-miR-1205	CLIP-seq
MIRT1923177	hsa-miR-1208	CLIP-seq
MIRT2466466	hsa-miR-1238	CLIP-seq
MIRT2164684	hsa-miR-1254	CLIP-seq
MIRT2466467	hsa-miR-1257	CLIP-seq
MIRT756818	hsa-miR-1260	CLIP-seq
MIRT756819	hsa-miR-1260b	CLIP-seq
MIRT2466468	hsa-miR-1287	CLIP-seq
MIRT1555889	hsa-miR-1301	CLIP-seq
MIRT756822	hsa-miR-136	CLIP-seq
MIRT2466469	hsa-miR-150	CLIP-seq
MIRT2466470	hsa-miR-186	CLIP-seq
MIRT756826	hsa-miR-188-3p	CLIP-seq
MIRT2466471	hsa-miR-199a-3p	CLIP-seq
MIRT2466472	hsa-miR-199b-3p	CLIP-seq
MIRT2466473	hsa-miR-2117	CLIP-seq
MIRT1555890	hsa-miR-22	CLIP-seq
MIRT756835	hsa-miR-300	CLIP-seq
MIRT2164690	hsa-miR-3116	CLIP-seq
MIRT756836	hsa-miR-3121-5p	CLIP-seq
MIRT2466474	hsa-miR-3124-3p	CLIP-seq
MIRT2466475	hsa-miR-3129-5p	CLIP-seq
MIRT2466476	hsa-miR-3133	CLIP-seq
MIRT2466477	hsa-miR-3135b	CLIP-seq
MIRT756837	hsa-miR-3136-3p	CLIP-seq
MIRT756840	hsa-miR-3144-5p	CLIP-seq
MIRT2466478	hsa-miR-3148	CLIP-seq
MIRT756841	hsa-miR-3150a-5p	CLIP-seq
MIRT756842	hsa-miR-3150b-5p	CLIP-seq
MIRT756843	hsa-miR-3152-5p	CLIP-seq
MIRT756844	hsa-miR-3156-3p	CLIP-seq
MIRT1555891	hsa-miR-3158-5p	CLIP-seq
MIRT2466480	hsa-miR-323b-5p	CLIP-seq
MIRT2466481	hsa-miR-338-5p	CLIP-seq
MIRT1923185	hsa-miR-34c-3p	CLIP-seq
MIRT2466482	hsa-miR-3613-3p	CLIP-seq
MIRT2466483	hsa-miR-361-3p	CLIP-seq
MIRT1923186	hsa-miR-3653	CLIP-seq
MIRT1923187	hsa-miR-3658	CLIP-seq
MIRT756847	hsa-miR-3672	CLIP-seq
MIRT2164693	hsa-miR-3689d	CLIP-seq
MIRT2466485	hsa-miR-377	CLIP-seq
MIRT756849	hsa-miR-381	CLIP-seq
MIRT2466486	hsa-miR-384	CLIP-seq
MIRT2466487	hsa-miR-3915	CLIP-seq
MIRT2466488	hsa-miR-3921	CLIP-seq
MIRT2466489	hsa-miR-3928	CLIP-seq
MIRT756852	hsa-miR-3936	CLIP-seq
MIRT2466490	hsa-miR-3944-5p	CLIP-seq
MIRT2466491	hsa-miR-4251	CLIP-seq
MIRT2164695	hsa-miR-4254	CLIP-seq
MIRT756856	hsa-miR-4269	CLIP-seq
MIRT756857	hsa-miR-4279	CLIP-seq
MIRT756858	hsa-miR-4282	CLIP-seq
MIRT756861	hsa-miR-4301	CLIP-seq
MIRT756863	hsa-miR-4329	CLIP-seq
MIRT2466492	hsa-miR-4422	CLIP-seq
MIRT2466493	hsa-miR-4434	CLIP-seq
MIRT2164698	hsa-miR-4448	CLIP-seq
MIRT756868	hsa-miR-4514	CLIP-seq
MIRT2466496	hsa-miR-4516	CLIP-seq
MIRT2466497	hsa-miR-4531	CLIP-seq
MIRT1923194	hsa-miR-4540	CLIP-seq
MIRT2466499	hsa-miR-4639-3p	CLIP-seq
MIRT2466500	hsa-miR-4653-5p	CLIP-seq
MIRT756872	hsa-miR-4659a-3p	CLIP-seq
MIRT756873	hsa-miR-4659b-3p	CLIP-seq
MIRT1555892	hsa-miR-4660	CLIP-seq
MIRT1923195	hsa-miR-4662a-3p	CLIP-seq
MIRT756874	hsa-miR-4665-3p	CLIP-seq
MIRT2466501	hsa-miR-4691-5p	CLIP-seq
MIRT756876	hsa-miR-4692	CLIP-seq
MIRT2466502	hsa-miR-4729	CLIP-seq
MIRT1923199	hsa-miR-4742-3p	CLIP-seq
MIRT756879	hsa-miR-4742-5p	CLIP-seq
MIRT756881	hsa-miR-4758-3p	CLIP-seq
MIRT2466503	hsa-miR-4768-5p	CLIP-seq
MIRT2466504	hsa-miR-4773	CLIP-seq
MIRT756884	hsa-miR-4774-3p	CLIP-seq
MIRT2466505	hsa-miR-4790-3p	CLIP-seq
MIRT2466506	hsa-miR-4797-3p	CLIP-seq
MIRT2466507	hsa-miR-4803	CLIP-seq
MIRT756885	hsa-miR-500a	CLIP-seq
MIRT756886	hsa-miR-501-5p	CLIP-seq
MIRT1555893	hsa-miR-5047	CLIP-seq
MIRT2466509	hsa-miR-511	CLIP-seq
MIRT1555894	hsa-miR-544	CLIP-seq
MIRT756888	hsa-miR-548ae	CLIP-seq
MIRT756889	hsa-miR-548aj	CLIP-seq
MIRT756890	hsa-miR-548am	CLIP-seq
MIRT2466510	hsa-miR-548l	CLIP-seq
MIRT2466511	hsa-miR-548n	CLIP-seq
MIRT756891	hsa-miR-548x	CLIP-seq
MIRT2466513	hsa-miR-563	CLIP-seq
MIRT2466515	hsa-miR-595	CLIP-seq
MIRT2466516	hsa-miR-600	CLIP-seq
MIRT756893	hsa-miR-624	CLIP-seq
MIRT1923204	hsa-miR-630	CLIP-seq
MIRT2466517	hsa-miR-642b	CLIP-seq
MIRT756899	hsa-miR-875-3p	CLIP-seq
MIRT756900	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 29892012, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016607	Component	Nuclear speck	IDA

Other IDs

• MIM: 614888
• HGNC: 25662
• e!Ensembl: ENSG00000103591

Protein

• UniProt ID: Q6PD74
• Protein name: Alpha- and gamma-adaptin-binding protein p34
• Protein function: May be involved in endocytic recycling of growth factor receptors such as EGFR.
• PDB: 7TWD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10199	Adaptin_binding	155 → 294		Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, including in skin and keratinocytes, with highest levels in adrenal gland, rectum and thymus. {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}.
• Sequence:

  MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINL
  CVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSED
  GINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDR
  NQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTESLSDHRGGASNTTDAQVDSIVDP
  MLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKAFWMAIG
  GDRDEIEGLSSDEEH

• Sequence length: 315

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AAGAB-related disorder	Likely pathogenic	rs2505534485	RCV003391336	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Pathogenic	rs748785284	RCV005870015	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma	Likely pathogenic	rs1057518846	RCV000415378	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Palmoplantar keratoderma, punctate type 1A	Likely pathogenic; Pathogenic	rs753247583, rs748785284, rs2505364268, rs2505534817, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs1567037561	RCV001329993 RCV005010972 RCV003130947 RCV004594755 RCV000032947 RCV000032948 RCV000032949 RCV000032950 RCV000032951 RCV001784368	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS PALMOPLANTARIS PAPULOSA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	-; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	9268294		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8735493		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31200764	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17210687		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	BEFREE	24289292		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	1968791		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26608363, 30872642, 31353312		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	23000146, 23448244		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	CTD_human_DG	23064416		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	ORPHANET_DG	23000146, 23064416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris papulosa	Keratosis palmoplantaris papulosa	Pubtator	23000146, 26608363, 31353312, 33765759	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	GENOMICS_ENGLAND_DG	23064416, 24289292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	BEFREE	26608363, 28239884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratosis palmoplantaris papulosa	Keratosis Palmoplantaris Papulosa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	17210687		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meleda Disease	Meleda Disease	CTD_human_DG	23064416		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17210687, 9268294		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate keratosis	Punctate Keratosis	GENOMICS_ENGLAND_DG	23064416, 24289292		★☆☆☆☆ Found in Text Mining only
Punctate palmoplantar hyperkeratosis	Punctate palmoplantar hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Punctate palmoplantar keratoderma type 1	Punctate Palmoplantar Keratoderma	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	31353312	Associate	★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	28977422		★☆☆☆☆ Found in Text Mining only