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	2035
Gene name	Erythrocyte membrane protein band 4.1
Gene symbol	EPB41
Synonyms (NCBI Gene)	4.1REL1HE
Chromosome	1
Chromosome location	1p35.3
Summary	The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 ellipto

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434564	T>C,G	Pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs869025285	GAATCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1477424620	G>C,T	Likely-pathogenic	Intron variant, splice donor variant
rs1557948192	A>G	Pathogenic	Coding sequence variant, missense variant, initiator codon variant
rs1557948590	T>G	Pathogenic	Stop gained, coding sequence variant

452

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019288	hsa-miR-148b-3p	Microarray	17612493
MIRT044608	hsa-miR-320a	CLASH	23622248
MIRT043725	hsa-miR-342-3p	CLASH	23622248
MIRT038089	hsa-miR-423-5p	CLASH	23622248
MIRT037204	hsa-miR-877-3p	CLASH	23622248
MIRT036194	hsa-miR-320b	CLASH	23622248
MIRT722126	hsa-miR-4769-3p	HITS-CLIP	19536157
MIRT722125	hsa-miR-6817-5p	HITS-CLIP	19536157
MIRT722124	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT722123	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT722122	hsa-miR-544a	HITS-CLIP	19536157
MIRT722121	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT640746	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT640745	hsa-miR-140-3p	HITS-CLIP	23824327
MIRT640744	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT384929	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT640743	hsa-miR-6128	HITS-CLIP	23824327
MIRT640742	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT640741	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT640740	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT640739	hsa-miR-1299	HITS-CLIP	23824327
MIRT640738	hsa-miR-6079	HITS-CLIP	23824327
MIRT640737	hsa-miR-3685	HITS-CLIP	23824327
MIRT640736	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT638771	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT638770	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT043725	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT638769	hsa-miR-4284	HITS-CLIP	23824327
MIRT638768	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638767	hsa-miR-1268a	HITS-CLIP	23824327
MIRT638766	hsa-miR-1268b	HITS-CLIP	23824327
MIRT638765	hsa-miR-4665-3p	HITS-CLIP	23824327
MIRT638764	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT636571	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT636570	hsa-miR-4453	HITS-CLIP	23824327
MIRT636569	hsa-miR-4538	HITS-CLIP	23824327
MIRT636568	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT636567	hsa-miR-4267	HITS-CLIP	23824327
MIRT636566	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT636565	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT636564	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT636563	hsa-miR-635	HITS-CLIP	23824327
MIRT636562	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT636561	hsa-miR-4537	HITS-CLIP	23824327
MIRT636560	hsa-miR-4252	HITS-CLIP	23824327
MIRT636559	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT636558	hsa-miR-7703	HITS-CLIP	23824327
MIRT727767	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727766	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727765	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727763	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727764	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT722126	hsa-miR-4769-3p	HITS-CLIP	19536157
MIRT722125	hsa-miR-6817-5p	HITS-CLIP	19536157
MIRT722124	hsa-miR-4727-5p	HITS-CLIP	19536157
MIRT722123	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT722122	hsa-miR-544a	HITS-CLIP	19536157
MIRT722121	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT640746	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT640745	hsa-miR-140-3p	HITS-CLIP	23824327
MIRT640744	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT384929	hsa-miR-875-3p	HITS-CLIP	23824327
MIRT640743	hsa-miR-6128	HITS-CLIP	23824327
MIRT640742	hsa-miR-6828-5p	HITS-CLIP	23824327
MIRT640741	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT640740	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT640739	hsa-miR-1299	HITS-CLIP	23824327
MIRT640738	hsa-miR-6079	HITS-CLIP	23824327
MIRT640737	hsa-miR-3685	HITS-CLIP	23824327
MIRT640736	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT638771	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT638770	hsa-miR-1908-3p	HITS-CLIP	23824327
MIRT043725	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT638769	hsa-miR-4284	HITS-CLIP	23824327
MIRT638768	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT638767	hsa-miR-1268a	HITS-CLIP	23824327
MIRT638766	hsa-miR-1268b	HITS-CLIP	23824327
MIRT638765	hsa-miR-4665-3p	HITS-CLIP	23824327
MIRT638764	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT636571	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT636570	hsa-miR-4453	HITS-CLIP	23824327
MIRT636569	hsa-miR-4538	HITS-CLIP	23824327
MIRT636568	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT636567	hsa-miR-4267	HITS-CLIP	23824327
MIRT636566	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT636565	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT636564	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT636563	hsa-miR-635	HITS-CLIP	23824327
MIRT636562	hsa-miR-6774-5p	HITS-CLIP	23824327
MIRT636561	hsa-miR-4537	HITS-CLIP	23824327
MIRT636560	hsa-miR-4252	HITS-CLIP	23824327
MIRT636559	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT636558	hsa-miR-7703	HITS-CLIP	23824327
MIRT965377	hsa-miR-1197	CLIP-seq
MIRT965378	hsa-miR-1228	CLIP-seq
MIRT965379	hsa-miR-1254	CLIP-seq
MIRT965380	hsa-miR-1267	CLIP-seq
MIRT965381	hsa-miR-1273e	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965383	hsa-miR-148a	CLIP-seq
MIRT965384	hsa-miR-148b	CLIP-seq
MIRT965385	hsa-miR-149	CLIP-seq
MIRT965386	hsa-miR-152	CLIP-seq
MIRT965387	hsa-miR-24	CLIP-seq
MIRT965388	hsa-miR-300	CLIP-seq
MIRT965389	hsa-miR-3116	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965391	hsa-miR-3147	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT965393	hsa-miR-3170	CLIP-seq
MIRT965394	hsa-miR-3202	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT965399	hsa-miR-381	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965401	hsa-miR-3921	CLIP-seq
MIRT965402	hsa-miR-3978	CLIP-seq
MIRT965403	hsa-miR-4251	CLIP-seq
MIRT965404	hsa-miR-4271	CLIP-seq
MIRT965405	hsa-miR-4302	CLIP-seq
MIRT965406	hsa-miR-4329	CLIP-seq
MIRT965407	hsa-miR-4425	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965409	hsa-miR-4446-3p	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965411	hsa-miR-4475	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965413	hsa-miR-4492	CLIP-seq
MIRT965414	hsa-miR-4498	CLIP-seq
MIRT965415	hsa-miR-4533	CLIP-seq
MIRT965416	hsa-miR-4653-5p	CLIP-seq
MIRT965417	hsa-miR-4695-5p	CLIP-seq
MIRT965418	hsa-miR-4697-3p	CLIP-seq
MIRT965419	hsa-miR-4725-3p	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT965423	hsa-miR-4786-5p	CLIP-seq
MIRT965424	hsa-miR-499-3p	CLIP-seq
MIRT965425	hsa-miR-499a-3p	CLIP-seq
MIRT965426	hsa-miR-539	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT965428	hsa-miR-658	CLIP-seq
MIRT965429	hsa-miR-665	CLIP-seq
MIRT965430	hsa-miR-760	CLIP-seq
MIRT965431	hsa-miR-762	CLIP-seq
MIRT965432	hsa-miR-766	CLIP-seq
MIRT965433	hsa-miR-892b	CLIP-seq
MIRT965377	hsa-miR-1197	CLIP-seq
MIRT965379	hsa-miR-1254	CLIP-seq
MIRT965434	hsa-miR-197	CLIP-seq
MIRT965435	hsa-miR-2355-5p	CLIP-seq
MIRT965389	hsa-miR-3116	CLIP-seq
MIRT965436	hsa-miR-3124-3p	CLIP-seq
MIRT965394	hsa-miR-3202	CLIP-seq
MIRT965437	hsa-miR-3667-3p	CLIP-seq
MIRT965415	hsa-miR-4533	CLIP-seq
MIRT965377	hsa-miR-1197	CLIP-seq
MIRT965379	hsa-miR-1254	CLIP-seq
MIRT965380	hsa-miR-1267	CLIP-seq
MIRT965381	hsa-miR-1273e	CLIP-seq
MIRT965438	hsa-miR-128	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965439	hsa-miR-1296	CLIP-seq
MIRT965440	hsa-miR-144	CLIP-seq
MIRT965441	hsa-miR-146a	CLIP-seq
MIRT965442	hsa-miR-146b-5p	CLIP-seq
MIRT965443	hsa-miR-150	CLIP-seq
MIRT965444	hsa-miR-181a	CLIP-seq
MIRT965445	hsa-miR-181b	CLIP-seq
MIRT965446	hsa-miR-181c	CLIP-seq
MIRT965447	hsa-miR-181d	CLIP-seq
MIRT965448	hsa-miR-1827	CLIP-seq
MIRT965449	hsa-miR-190	CLIP-seq
MIRT965450	hsa-miR-190b	CLIP-seq
MIRT965451	hsa-miR-27a	CLIP-seq
MIRT965452	hsa-miR-27b	CLIP-seq
MIRT965453	hsa-miR-2909	CLIP-seq
MIRT965454	hsa-miR-298	CLIP-seq
MIRT965455	hsa-miR-31	CLIP-seq
MIRT965389	hsa-miR-3116	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965456	hsa-miR-3158-5p	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT965457	hsa-miR-3201	CLIP-seq
MIRT965394	hsa-miR-3202	CLIP-seq
MIRT965458	hsa-miR-329	CLIP-seq
MIRT965459	hsa-miR-361-5p	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965460	hsa-miR-362-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965461	hsa-miR-3925-5p	CLIP-seq
MIRT965462	hsa-miR-3929	CLIP-seq
MIRT965463	hsa-miR-3941	CLIP-seq
MIRT965464	hsa-miR-412	CLIP-seq
MIRT965465	hsa-miR-4262	CLIP-seq
MIRT965466	hsa-miR-4269	CLIP-seq
MIRT965467	hsa-miR-4418	CLIP-seq
MIRT965468	hsa-miR-4419b	CLIP-seq
MIRT965469	hsa-miR-4436b-3p	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965470	hsa-miR-4478	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965471	hsa-miR-4514	CLIP-seq
MIRT965415	hsa-miR-4533	CLIP-seq
MIRT965472	hsa-miR-4649-3p	CLIP-seq
MIRT965473	hsa-miR-4692	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965474	hsa-miR-4736	CLIP-seq
MIRT965475	hsa-miR-4742-5p	CLIP-seq
MIRT965476	hsa-miR-4761-3p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965477	hsa-miR-4791	CLIP-seq
MIRT965478	hsa-miR-485-5p	CLIP-seq
MIRT965479	hsa-miR-509-3-5p	CLIP-seq
MIRT965480	hsa-miR-509-5p	CLIP-seq
MIRT965481	hsa-miR-513a-5p	CLIP-seq
MIRT965482	hsa-miR-543	CLIP-seq
MIRT965483	hsa-miR-603	CLIP-seq
MIRT965484	hsa-miR-607	CLIP-seq
MIRT965485	hsa-miR-657	CLIP-seq
MIRT965429	hsa-miR-665	CLIP-seq
MIRT965486	hsa-miR-940	CLIP-seq
MIRT1986070	hsa-miR-4639-3p	CLIP-seq
MIRT1986071	hsa-miR-668	CLIP-seq
MIRT1986072	hsa-miR-205	CLIP-seq
MIRT1986073	hsa-miR-4753-5p	CLIP-seq
MIRT1986074	hsa-miR-579	CLIP-seq
MIRT2220469	hsa-let-7a	CLIP-seq
MIRT2220470	hsa-let-7b	CLIP-seq
MIRT2220471	hsa-let-7c	CLIP-seq
MIRT2220472	hsa-let-7d	CLIP-seq
MIRT2220473	hsa-let-7e	CLIP-seq
MIRT2220474	hsa-let-7f	CLIP-seq
MIRT2220475	hsa-let-7g	CLIP-seq
MIRT2220476	hsa-let-7i	CLIP-seq
MIRT2220477	hsa-miR-1206	CLIP-seq
MIRT965378	hsa-miR-1228	CLIP-seq
MIRT965380	hsa-miR-1267	CLIP-seq
MIRT2220478	hsa-miR-1273f	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965441	hsa-miR-146a	CLIP-seq
MIRT965442	hsa-miR-146b-5p	CLIP-seq
MIRT965385	hsa-miR-149	CLIP-seq
MIRT965448	hsa-miR-1827	CLIP-seq
MIRT2220479	hsa-miR-185	CLIP-seq
MIRT965449	hsa-miR-190	CLIP-seq
MIRT965450	hsa-miR-190b	CLIP-seq
MIRT965434	hsa-miR-197	CLIP-seq
MIRT2220480	hsa-miR-202	CLIP-seq
MIRT965435	hsa-miR-2355-5p	CLIP-seq
MIRT965455	hsa-miR-31	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965436	hsa-miR-3124-3p	CLIP-seq
MIRT2220481	hsa-miR-3135b	CLIP-seq
MIRT965391	hsa-miR-3147	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT965457	hsa-miR-3201	CLIP-seq
MIRT2220482	hsa-miR-324-5p	CLIP-seq
MIRT2220483	hsa-miR-335	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965437	hsa-miR-3667-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965401	hsa-miR-3921	CLIP-seq
MIRT965461	hsa-miR-3925-5p	CLIP-seq
MIRT965462	hsa-miR-3929	CLIP-seq
MIRT965403	hsa-miR-4251	CLIP-seq
MIRT965405	hsa-miR-4302	CLIP-seq
MIRT2220484	hsa-miR-4306	CLIP-seq
MIRT965406	hsa-miR-4329	CLIP-seq
MIRT2220485	hsa-miR-433	CLIP-seq
MIRT965468	hsa-miR-4419b	CLIP-seq
MIRT2220486	hsa-miR-4423-5p	CLIP-seq
MIRT965407	hsa-miR-4425	CLIP-seq
MIRT2220487	hsa-miR-4432	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965409	hsa-miR-4446-3p	CLIP-seq
MIRT2220488	hsa-miR-4458	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965470	hsa-miR-4478	CLIP-seq
MIRT2220489	hsa-miR-4480	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965413	hsa-miR-4492	CLIP-seq
MIRT2220490	hsa-miR-4493	CLIP-seq
MIRT2220491	hsa-miR-4496	CLIP-seq
MIRT965414	hsa-miR-4498	CLIP-seq
MIRT2220492	hsa-miR-4500	CLIP-seq
MIRT2220493	hsa-miR-4502	CLIP-seq
MIRT2220494	hsa-miR-4534	CLIP-seq
MIRT2220495	hsa-miR-4644	CLIP-seq
MIRT965472	hsa-miR-4649-3p	CLIP-seq
MIRT965416	hsa-miR-4653-5p	CLIP-seq
MIRT2220496	hsa-miR-4670-3p	CLIP-seq
MIRT2220497	hsa-miR-4717-5p	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT1986073	hsa-miR-4753-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT2220498	hsa-miR-4762-3p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT965423	hsa-miR-4786-5p	CLIP-seq
MIRT965477	hsa-miR-4791	CLIP-seq
MIRT2220499	hsa-miR-4802-5p	CLIP-seq
MIRT965478	hsa-miR-485-5p	CLIP-seq
MIRT965424	hsa-miR-499-3p	CLIP-seq
MIRT2220500	hsa-miR-499-5p	CLIP-seq
MIRT965425	hsa-miR-499a-3p	CLIP-seq
MIRT965426	hsa-miR-539	CLIP-seq
MIRT2220501	hsa-miR-544	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT2220502	hsa-miR-548a-3p	CLIP-seq
MIRT2220503	hsa-miR-548e	CLIP-seq
MIRT2220504	hsa-miR-548f	CLIP-seq
MIRT2220505	hsa-miR-548g	CLIP-seq
MIRT965483	hsa-miR-603	CLIP-seq
MIRT2220506	hsa-miR-605	CLIP-seq
MIRT2220507	hsa-miR-624	CLIP-seq
MIRT965430	hsa-miR-760	CLIP-seq
MIRT965431	hsa-miR-762	CLIP-seq
MIRT2220508	hsa-miR-765	CLIP-seq
MIRT965432	hsa-miR-766	CLIP-seq
MIRT965433	hsa-miR-892b	CLIP-seq
MIRT2220509	hsa-miR-98	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT2387433	hsa-miR-1304	CLIP-seq
MIRT965434	hsa-miR-197	CLIP-seq
MIRT965435	hsa-miR-2355-5p	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965436	hsa-miR-3124-3p	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965437	hsa-miR-3667-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT2387434	hsa-miR-4265	CLIP-seq
MIRT2387435	hsa-miR-4296	CLIP-seq
MIRT2387436	hsa-miR-431	CLIP-seq
MIRT2387437	hsa-miR-4322	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT2387438	hsa-miR-4725-5p	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT2387439	hsa-miR-491-5p	CLIP-seq
MIRT2387440	hsa-miR-504	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT2437017	hsa-miR-216b	CLIP-seq
MIRT2437017	hsa-miR-216b	CLIP-seq
MIRT965378	hsa-miR-1228	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT965378	hsa-miR-1228	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965434	hsa-miR-197	CLIP-seq
MIRT965435	hsa-miR-2355-5p	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965436	hsa-miR-3124-3p	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT2220483	hsa-miR-335	CLIP-seq
MIRT2524268	hsa-miR-3613-3p	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965437	hsa-miR-3667-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT2524269	hsa-miR-371-5p	CLIP-seq
MIRT2524270	hsa-miR-371b-5p	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965462	hsa-miR-3929	CLIP-seq
MIRT965468	hsa-miR-4419b	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965470	hsa-miR-4478	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT965423	hsa-miR-4786-5p	CLIP-seq
MIRT965478	hsa-miR-485-5p	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT2524271	hsa-miR-548ae	CLIP-seq
MIRT2524272	hsa-miR-548aj	CLIP-seq
MIRT2524273	hsa-miR-548am	CLIP-seq
MIRT2524274	hsa-miR-548x	CLIP-seq
MIRT965432	hsa-miR-766	CLIP-seq
MIRT2524275	hsa-miR-890	CLIP-seq
MIRT965378	hsa-miR-1228	CLIP-seq
MIRT965382	hsa-miR-1293	CLIP-seq
MIRT965434	hsa-miR-197	CLIP-seq
MIRT965435	hsa-miR-2355-5p	CLIP-seq
MIRT965390	hsa-miR-3122	CLIP-seq
MIRT965436	hsa-miR-3124-3p	CLIP-seq
MIRT965392	hsa-miR-3165	CLIP-seq
MIRT2524268	hsa-miR-3613-3p	CLIP-seq
MIRT965395	hsa-miR-3622a-3p	CLIP-seq
MIRT965396	hsa-miR-3622b-3p	CLIP-seq
MIRT965437	hsa-miR-3667-3p	CLIP-seq
MIRT965397	hsa-miR-3689a-3p	CLIP-seq
MIRT965398	hsa-miR-3689c	CLIP-seq
MIRT2524269	hsa-miR-371-5p	CLIP-seq
MIRT2524270	hsa-miR-371b-5p	CLIP-seq
MIRT965400	hsa-miR-3913-5p	CLIP-seq
MIRT965462	hsa-miR-3929	CLIP-seq
MIRT2680139	hsa-miR-4282	CLIP-seq
MIRT965468	hsa-miR-4419b	CLIP-seq
MIRT965408	hsa-miR-4433	CLIP-seq
MIRT965410	hsa-miR-4459	CLIP-seq
MIRT965470	hsa-miR-4478	CLIP-seq
MIRT965412	hsa-miR-4483	CLIP-seq
MIRT965417	hsa-miR-4695-5p	CLIP-seq
MIRT965420	hsa-miR-4728-5p	CLIP-seq
MIRT965421	hsa-miR-4761-5p	CLIP-seq
MIRT965422	hsa-miR-4768-3p	CLIP-seq
MIRT965423	hsa-miR-4786-5p	CLIP-seq
MIRT965478	hsa-miR-485-5p	CLIP-seq
MIRT965427	hsa-miR-544b	CLIP-seq
MIRT2524271	hsa-miR-548ae	CLIP-seq
MIRT2524272	hsa-miR-548aj	CLIP-seq
MIRT2524273	hsa-miR-548am	CLIP-seq
MIRT2680140	hsa-miR-548c-3p	CLIP-seq
MIRT2524274	hsa-miR-548x	CLIP-seq
MIRT2220506	hsa-miR-605	CLIP-seq
MIRT965428	hsa-miR-658	CLIP-seq
MIRT965429	hsa-miR-665	CLIP-seq
MIRT965432	hsa-miR-766	CLIP-seq
MIRT2524275	hsa-miR-890	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	6894932
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	6894932
GO:0005515	Function	Protein binding	IPI	8922391, 10692436, 11003675, 16060676, 16254212, 16669616, 20109190, 23870127, 24996901, 25416956, 32814053
GO:0005516	Function	Calmodulin binding	IEA
GO:0005545	Function	1-phosphatidylinositol binding	IDA	16669616
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IMP	6894932
GO:0005886	Component	Plasma membrane	TAS	9598318
GO:0005938	Component	Cell cortex	IDA	23870127
GO:0005938	Component	Cell cortex	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	TAS	3693401
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0030036	Process	Actin cytoskeleton organization	NAS	8434260
GO:0030054	Component	Cell junction	IDA
GO:0030507	Function	Spectrin binding	TAS	3693401
GO:0030863	Component	Cortical cytoskeleton	IDA	16254212
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0031032	Process	Actomyosin structure organization	IBA
GO:0032991	Component	Protein-containing complex	IDA	16060676
GO:0032991	Component	Protein-containing complex	IMP	20109190
GO:0045171	Component	Intercellular bridge	IDA
GO:0051219	Function	Phosphoprotein binding	IMP	20109190
GO:0051301	Process	Cell division	IEA
GO:0051924	Process	Regulation of calcium ion transport	ISS
GO:0072686	Component	Mitotic spindle	IDA
GO:1904478	Process	Regulation of intestinal absorption	ISS
GO:1904778	Process	Positive regulation of protein localization to cell cortex	IMP	23870127

MIM	HGNC	e!Ensembl
130500	3377	ENSG00000159023

P11171

Protein name

Protein 4.1 (P4.1) (4.1R) (Band 4.1) (EPB4.1) (Erythrocyte membrane protein band 4.1)

Protein function

Protein 4.1 is a major structural element of the erythrocyte membrane skeleton. It plays a key role in regulating membrane physical properties of mechanical stability and deformability by stabilizing spectrin-actin interaction. Recruits DLG1 to

PDB

1GG3 , 2RQ1 , 3QIJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09379	FERM_N	214 → 277	FERM N-terminal domain	Domain
PF00373	FERM_M	292 → 401	FERM central domain	Domain
PF09380	FERM_C	405 → 494	FERM C-terminal PH-like domain	Domain
PF08736	FA	499 → 542	FERM adjacent (FA)	Family
PF04382	SAB	667 → 715	SAB domain	Domain
PF05902	4_1_CTD	753 → 860	4.1 protein C-terminal domain (CTD)	Domain

Sequence

MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDT
PTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESDKEKGEGGQKEIEFGT
SLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECS
KIEVKEESPQSKAETELKASQKPIRKHRNMHCKVSLLDDTVYECVVEKHAKGQDLLKRVC
EHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDI
TRYYLCLQLRQDIVAGRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQT
KELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGL
LVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVC
VEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALIDRPAPHFERTASKRAS
RSLDGAAAVDSADRSPRPTSAPAITQGQVAEGGVLDASAKKTVVPKAQKETVKAEVKKED
EPPEQAEPEPTEAWKVEKTHIEVTVPTSNGDQTQKLAEKTEDLIRMRKKKRERLDGENIY
IRHSNLMLEDLDKSQEEIKKHHASISELKKNFMESVPEPRPSEWDKRLSTHSPFRTLNIN
GQIPTGEGPPLVKTQTVTISDNANAVKSEIPTKDVPIVHTETKTITYEAAQTDDNSGDLD
PGVLLTAQTITSETPSSTTTTQITKTVKGGISETRIEKRIVITGDADIDHDQVLVQAIKE
AKEQHPDMSVTKVVVHQETEIADE

Sequence length

864

Interactions

View interactions

	Reactome
			Neurexins and neuroligins

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Elliptocytosis 1	Likely pathogenic; Pathogenic	rs2150754040, rs1160118901, rs2150273700, rs2151005632, rs2548448730, rs2548140072, rs2547564126, rs2548180428, rs2548658834, rs2548660142, rs121434564	RCV003339656 RCV001781038 RCV001781039 RCV001802366 RCV003146604 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EPB41-related disorder	Likely pathogenic; Pathogenic	rs537037014, rs2548180428	RCV003404613 RCV003400032	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary elliptocytosis	Pathogenic	rs869025285	RCV000207065	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

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.
ELLIPTOCYTOSIS, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	Pubtator	2384597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	15731777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31063460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31063460	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29286069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	17298666	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	20477965, 20797695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis 1	Elliptocytosis	GENOMICS_ENGLAND_DG	1430200, 3134067		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	2384597, 2384598, 3134067	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis 1	Hereditary elliptocytosis	Pubtator	8353290	Inhibit	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis 1	Elliptocytosis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis 1	Elliptocytosis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	17994571, 2384598, 27667160, 3058231, 32807033, 33942936, 6487803, 8353290, 8423235, 9596685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Elliptocytosis, Hereditary	Elliptocytosis	BEFREE	12432217, 21839655, 27667160		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	GENOMICS_ENGLAND_DG	1430200, 3134067		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	ORPHANET_DG	23664421		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Elliptocytosis, Hereditary	Elliptocytosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ependymoma	Ependymoma	LHGDN	15731777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary elliptocytosis	Hereditary Elliptocytosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	27667160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia, Neonatal	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	14585371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukocyte Adhesion Deficiency Type III	Leukocyte adhesion deficiency	Pubtator	20357244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27453575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31063460		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	17145863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	LHGDN	12901833, 16157202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	16157202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	11283070	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16157202		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	LHGDN	11737230		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20860828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	31122244, 3611357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
stomatocytic anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

EPB41 (erythrocyte membrane protein band 4.1)