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	79188
Gene name	Transmembrane protein 43
Gene symbol	TMEM43
Synonyms (NCBI Gene)	ARVC5ARVD5AUNA3EDMD7EDMD7; AUNA2LUMA
Chromosome	3
Chromosome location	3p25.1
Summary	This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricula

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SNP ID	Visualize variation	Clinical significance	Consequence
rs63750743	C>T	Pathogenic	Coding sequence variant, missense variant
rs116911972	T>C	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs144152046	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs144811578	A>G	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs151010429	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514044	G>A	Pathogenic	Missense variant, coding sequence variant
rs533275736	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754797146	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs778127887	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs794729179	G>A	Likely-pathogenic	Missense variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT001406	hsa-miR-16-5p	pSILAC	18668040
MIRT022952	hsa-miR-124-3p	Microarray	18668037
MIRT025854	hsa-miR-7-5p	Microarray	19073608
MIRT027185	hsa-miR-103a-3p	Sequencing	20371350
MIRT001406	hsa-miR-16-5p	Sequencing	20371350
MIRT001406	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT046472	hsa-miR-15b-5p	CLASH	23622248
MIRT665767	hsa-miR-320d	HITS-CLIP	23824327
MIRT665766	hsa-miR-320b	HITS-CLIP	23824327
MIRT665765	hsa-miR-320a	HITS-CLIP	23824327
MIRT665764	hsa-miR-320c	HITS-CLIP	23824327
MIRT665763	hsa-miR-4429	HITS-CLIP	23824327
MIRT665762	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT665761	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT665760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT665759	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT665758	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT665757	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT665756	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT665755	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT665754	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT665753	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT520595	hsa-miR-4505	PAR-CLIP	23446348
MIRT520594	hsa-miR-5787	PAR-CLIP	23446348
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT465877	hsa-miR-4651	PAR-CLIP	23446348
MIRT465876	hsa-miR-608	PAR-CLIP	23446348
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT465874	hsa-miR-3650	PAR-CLIP	23446348
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT465872	hsa-miR-7977	PAR-CLIP	23446348
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT465897	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT465895	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT465896	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT465894	hsa-miR-3125	PAR-CLIP	23592263
MIRT465893	hsa-miR-3916	PAR-CLIP	23592263
MIRT465892	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT465891	hsa-miR-4496	PAR-CLIP	23592263
MIRT465890	hsa-miR-4476	PAR-CLIP	23592263
MIRT465889	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT465888	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT465887	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT465886	hsa-miR-4264	PAR-CLIP	23592263
MIRT465885	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT465884	hsa-miR-4261	PAR-CLIP	23592263
MIRT465883	hsa-miR-4533	PAR-CLIP	23592263
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT465877	hsa-miR-4651	PAR-CLIP	23592263
MIRT465876	hsa-miR-608	PAR-CLIP	23592263
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT465874	hsa-miR-3650	PAR-CLIP	23592263
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT465872	hsa-miR-7977	PAR-CLIP	23592263
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT665767	hsa-miR-320d	HITS-CLIP	23824327
MIRT665766	hsa-miR-320b	HITS-CLIP	23824327
MIRT665765	hsa-miR-320a	HITS-CLIP	23824327
MIRT665764	hsa-miR-320c	HITS-CLIP	23824327
MIRT665763	hsa-miR-4429	HITS-CLIP	23824327
MIRT665762	hsa-miR-142-5p	HITS-CLIP	23824327
MIRT665761	hsa-miR-5590-3p	HITS-CLIP	23824327
MIRT665760	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT665759	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT665758	hsa-miR-9-3p	HITS-CLIP	23824327
MIRT665757	hsa-miR-340-5p	HITS-CLIP	23824327
MIRT665756	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT665755	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT665754	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT665753	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23446348
MIRT520595	hsa-miR-4505	PAR-CLIP	23446348
MIRT520594	hsa-miR-5787	PAR-CLIP	23446348
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23446348
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23446348
MIRT465877	hsa-miR-4651	PAR-CLIP	23446348
MIRT465876	hsa-miR-608	PAR-CLIP	23446348
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23446348
MIRT465874	hsa-miR-3650	PAR-CLIP	23446348
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT465872	hsa-miR-7977	PAR-CLIP	23446348
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23446348
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23446348
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23446348
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT465897	hsa-miR-651-3p	PAR-CLIP	23592263
MIRT465895	hsa-miR-6758-5p	PAR-CLIP	23592263
MIRT465896	hsa-miR-6856-5p	PAR-CLIP	23592263
MIRT465894	hsa-miR-3125	PAR-CLIP	23592263
MIRT465893	hsa-miR-3916	PAR-CLIP	23592263
MIRT465892	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT465891	hsa-miR-4496	PAR-CLIP	23592263
MIRT465890	hsa-miR-4476	PAR-CLIP	23592263
MIRT465889	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT465888	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT465887	hsa-miR-1910-5p	PAR-CLIP	23592263
MIRT465886	hsa-miR-4264	PAR-CLIP	23592263
MIRT465885	hsa-miR-1252-5p	PAR-CLIP	23592263
MIRT465884	hsa-miR-4261	PAR-CLIP	23592263
MIRT465883	hsa-miR-4533	PAR-CLIP	23592263
MIRT465882	hsa-miR-7155-5p	PAR-CLIP	23592263
MIRT465881	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT465880	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT465879	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT465878	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT465877	hsa-miR-4651	PAR-CLIP	23592263
MIRT465876	hsa-miR-608	PAR-CLIP	23592263
MIRT465875	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT465874	hsa-miR-3650	PAR-CLIP	23592263
MIRT465873	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT465872	hsa-miR-7977	PAR-CLIP	23592263
MIRT465871	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT465869	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT465870	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT465868	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT1437365	hsa-miR-1207-3p	CLIP-seq
MIRT1437366	hsa-miR-1244	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT1437368	hsa-miR-1256	CLIP-seq
MIRT1437369	hsa-miR-1283	CLIP-seq
MIRT1437370	hsa-miR-1293	CLIP-seq
MIRT1437371	hsa-miR-1296	CLIP-seq
MIRT1437372	hsa-miR-1304	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437378	hsa-miR-188-3p	CLIP-seq
MIRT1437379	hsa-miR-1910	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437383	hsa-miR-1976	CLIP-seq
MIRT1437384	hsa-miR-199a-5p	CLIP-seq
MIRT1437385	hsa-miR-199b-5p	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437388	hsa-miR-2110	CLIP-seq
MIRT1437389	hsa-miR-2115	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437392	hsa-miR-219-5p	CLIP-seq
MIRT1437393	hsa-miR-22	CLIP-seq
MIRT1437394	hsa-miR-2467-3p	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT1437396	hsa-miR-3121-3p	CLIP-seq
MIRT1437397	hsa-miR-3128	CLIP-seq
MIRT1437398	hsa-miR-3150a-3p	CLIP-seq
MIRT1437399	hsa-miR-3165	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437401	hsa-miR-3184	CLIP-seq
MIRT1437402	hsa-miR-3194-3p	CLIP-seq
MIRT1437403	hsa-miR-331-5p	CLIP-seq
MIRT1437404	hsa-miR-33a	CLIP-seq
MIRT1437405	hsa-miR-33b	CLIP-seq
MIRT1437406	hsa-miR-340	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437409	hsa-miR-3606	CLIP-seq
MIRT1437410	hsa-miR-3616-5p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437412	hsa-miR-3622b-5p	CLIP-seq
MIRT1437413	hsa-miR-3647-5p	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437415	hsa-miR-3653	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437417	hsa-miR-3660	CLIP-seq
MIRT1437418	hsa-miR-3676	CLIP-seq
MIRT1437419	hsa-miR-3678-3p	CLIP-seq
MIRT1437420	hsa-miR-370	CLIP-seq
MIRT1437421	hsa-miR-3919	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437423	hsa-miR-3945	CLIP-seq
MIRT1437424	hsa-miR-3973	CLIP-seq
MIRT1437425	hsa-miR-423-5p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437427	hsa-miR-4253	CLIP-seq
MIRT1437428	hsa-miR-4257	CLIP-seq
MIRT1437429	hsa-miR-4259	CLIP-seq
MIRT1437430	hsa-miR-4271	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437432	hsa-miR-4277	CLIP-seq
MIRT1437433	hsa-miR-4283	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT1437436	hsa-miR-4302	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437439	hsa-miR-4445	CLIP-seq
MIRT1437440	hsa-miR-4455	CLIP-seq
MIRT1437441	hsa-miR-4471	CLIP-seq
MIRT1437442	hsa-miR-4480	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437444	hsa-miR-4483	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT1437448	hsa-miR-4508	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT1437450	hsa-miR-450b-5p	CLIP-seq
MIRT1437451	hsa-miR-4511	CLIP-seq
MIRT1437452	hsa-miR-4512	CLIP-seq
MIRT1437453	hsa-miR-4514	CLIP-seq
MIRT1437454	hsa-miR-4520a-5p	CLIP-seq
MIRT1437455	hsa-miR-4520b-5p	CLIP-seq
MIRT1437456	hsa-miR-4526	CLIP-seq
MIRT1437457	hsa-miR-4633-3p	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437459	hsa-miR-4645-5p	CLIP-seq
MIRT1437460	hsa-miR-4650-5p	CLIP-seq
MIRT1437461	hsa-miR-4655-5p	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437463	hsa-miR-4659a-3p	CLIP-seq
MIRT1437464	hsa-miR-4659b-3p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT1437466	hsa-miR-4673	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT1437468	hsa-miR-4678	CLIP-seq
MIRT1437469	hsa-miR-4692	CLIP-seq
MIRT1437470	hsa-miR-4693-3p	CLIP-seq
MIRT1437471	hsa-miR-4703-3p	CLIP-seq
MIRT1437472	hsa-miR-4711-3p	CLIP-seq
MIRT1437473	hsa-miR-4715-5p	CLIP-seq
MIRT1437474	hsa-miR-4720-5p	CLIP-seq
MIRT1437475	hsa-miR-4725-3p	CLIP-seq
MIRT1437476	hsa-miR-4727-5p	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437479	hsa-miR-4755-3p	CLIP-seq
MIRT1437480	hsa-miR-4756-3p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT1437482	hsa-miR-4763-5p	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT1437484	hsa-miR-4769-3p	CLIP-seq
MIRT1437485	hsa-miR-4778-5p	CLIP-seq
MIRT1437486	hsa-miR-4782-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437488	hsa-miR-4799-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT1437491	hsa-miR-501-5p	CLIP-seq
MIRT1437492	hsa-miR-507	CLIP-seq
MIRT1437493	hsa-miR-508-3p	CLIP-seq
MIRT1437494	hsa-miR-520d-5p	CLIP-seq
MIRT1437495	hsa-miR-524-5p	CLIP-seq
MIRT1437496	hsa-miR-526b	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT1437498	hsa-miR-548a-5p	CLIP-seq
MIRT1437499	hsa-miR-548ab	CLIP-seq
MIRT1437500	hsa-miR-548ae	CLIP-seq
MIRT1437501	hsa-miR-548aj	CLIP-seq
MIRT1437502	hsa-miR-548ak	CLIP-seq
MIRT1437503	hsa-miR-548am	CLIP-seq
MIRT1437504	hsa-miR-548b-3p	CLIP-seq
MIRT1437505	hsa-miR-548b-5p	CLIP-seq
MIRT1437506	hsa-miR-548c-5p	CLIP-seq
MIRT1437507	hsa-miR-548d-5p	CLIP-seq
MIRT1437508	hsa-miR-548h	CLIP-seq
MIRT1437509	hsa-miR-548i	CLIP-seq
MIRT1437510	hsa-miR-548j	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT1437512	hsa-miR-548w	CLIP-seq
MIRT1437513	hsa-miR-548x	CLIP-seq
MIRT1437514	hsa-miR-548y	CLIP-seq
MIRT1437515	hsa-miR-550a	CLIP-seq
MIRT1437516	hsa-miR-557	CLIP-seq
MIRT1437517	hsa-miR-559	CLIP-seq
MIRT1437518	hsa-miR-573	CLIP-seq
MIRT1437519	hsa-miR-603	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437521	hsa-miR-615-5p	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT1437525	hsa-miR-651	CLIP-seq
MIRT1437526	hsa-miR-7	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437529	hsa-miR-921	CLIP-seq
MIRT1437530	hsa-miR-940	CLIP-seq
MIRT1437531	hsa-miR-942	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT2131060	hsa-miR-1253	CLIP-seq
MIRT1437368	hsa-miR-1256	CLIP-seq
MIRT2131061	hsa-miR-143	CLIP-seq
MIRT2131062	hsa-miR-147	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437379	hsa-miR-1910	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT2131063	hsa-miR-302f	CLIP-seq
MIRT1437397	hsa-miR-3128	CLIP-seq
MIRT2131064	hsa-miR-3133	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437402	hsa-miR-3194-3p	CLIP-seq
MIRT1437403	hsa-miR-331-5p	CLIP-seq
MIRT2131066	hsa-miR-361-5p	CLIP-seq
MIRT2131067	hsa-miR-3617	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437414	hsa-miR-3652	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437418	hsa-miR-3676	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT2131068	hsa-miR-3944-5p	CLIP-seq
MIRT1437423	hsa-miR-3945	CLIP-seq
MIRT1437424	hsa-miR-3973	CLIP-seq
MIRT2131069	hsa-miR-3976	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437427	hsa-miR-4253	CLIP-seq
MIRT2131070	hsa-miR-4269	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT1437438	hsa-miR-4430	CLIP-seq
MIRT1437440	hsa-miR-4455	CLIP-seq
MIRT1437443	hsa-miR-4481	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT1437468	hsa-miR-4678	CLIP-seq
MIRT2131071	hsa-miR-4726-3p	CLIP-seq
MIRT2131072	hsa-miR-4729	CLIP-seq
MIRT1437478	hsa-miR-4745-5p	CLIP-seq
MIRT1437481	hsa-miR-4758-5p	CLIP-seq
MIRT2131073	hsa-miR-4770	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2131074	hsa-miR-500a	CLIP-seq
MIRT1437491	hsa-miR-501-5p	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT2131075	hsa-miR-548al	CLIP-seq
MIRT1437504	hsa-miR-548b-3p	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131078	hsa-miR-576-3p	CLIP-seq
MIRT2131079	hsa-miR-581	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131081	hsa-miR-641	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT2131083	hsa-miR-671-5p	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT2352345	hsa-miR-1225-3p	CLIP-seq
MIRT2352346	hsa-miR-1233	CLIP-seq
MIRT1437367	hsa-miR-1252	CLIP-seq
MIRT2131060	hsa-miR-1253	CLIP-seq
MIRT2352347	hsa-miR-129-3p	CLIP-seq
MIRT2352348	hsa-miR-138	CLIP-seq
MIRT2131061	hsa-miR-143	CLIP-seq
MIRT1437374	hsa-miR-1587	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT2352349	hsa-miR-3611	CLIP-seq
MIRT2131066	hsa-miR-361-5p	CLIP-seq
MIRT1437410	hsa-miR-3616-5p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437413	hsa-miR-3647-5p	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT2352350	hsa-miR-3929	CLIP-seq
MIRT2131069	hsa-miR-3976	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT2131070	hsa-miR-4269	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2352351	hsa-miR-4299	CLIP-seq
MIRT1437436	hsa-miR-4302	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT2352353	hsa-miR-4419b	CLIP-seq
MIRT2352354	hsa-miR-4434	CLIP-seq
MIRT2352355	hsa-miR-4478	CLIP-seq
MIRT1437442	hsa-miR-4480	CLIP-seq
MIRT1437446	hsa-miR-4492	CLIP-seq
MIRT1437447	hsa-miR-4498	CLIP-seq
MIRT2352356	hsa-miR-4516	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT1437462	hsa-miR-4656	CLIP-seq
MIRT1437463	hsa-miR-4659a-3p	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT1437464	hsa-miR-4659b-3p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2352359	hsa-miR-4663	CLIP-seq
MIRT1437467	hsa-miR-4675	CLIP-seq
MIRT2352360	hsa-miR-4708-3p	CLIP-seq
MIRT1437472	hsa-miR-4711-3p	CLIP-seq
MIRT2352361	hsa-miR-4722-5p	CLIP-seq
MIRT1437476	hsa-miR-4727-5p	CLIP-seq
MIRT2131072	hsa-miR-4729	CLIP-seq
MIRT1437477	hsa-miR-4741	CLIP-seq
MIRT2352362	hsa-miR-4768-3p	CLIP-seq
MIRT1437484	hsa-miR-4769-3p	CLIP-seq
MIRT2131073	hsa-miR-4770	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT2352364	hsa-miR-4797-3p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2131075	hsa-miR-548al	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT1437518	hsa-miR-573	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT1437528	hsa-miR-762	CLIP-seq
MIRT1437531	hsa-miR-942	CLIP-seq
MIRT1437382	hsa-miR-1972	CLIP-seq
MIRT1437407	hsa-miR-346	CLIP-seq
MIRT1437416	hsa-miR-3658	CLIP-seq
MIRT1437434	hsa-miR-4288	CLIP-seq
MIRT1437523	hsa-miR-632	CLIP-seq
MIRT2646107	hsa-miR-129-5p	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT2646108	hsa-miR-148a	CLIP-seq
MIRT2646109	hsa-miR-148b	CLIP-seq
MIRT2646110	hsa-miR-152	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT2646111	hsa-miR-2052	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT2646112	hsa-miR-337-5p	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2646113	hsa-miR-4291	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT2646114	hsa-miR-4477a	CLIP-seq
MIRT2646115	hsa-miR-4485	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2646116	hsa-miR-4705	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT2646117	hsa-miR-512-5p	CLIP-seq
MIRT1437497	hsa-miR-545	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT2646118	hsa-miR-607	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq
MIRT2646119	hsa-miR-922	CLIP-seq
MIRT2646107	hsa-miR-129-5p	CLIP-seq
MIRT1437373	hsa-miR-132	CLIP-seq
MIRT2646108	hsa-miR-148a	CLIP-seq
MIRT2646109	hsa-miR-148b	CLIP-seq
MIRT2646110	hsa-miR-152	CLIP-seq
MIRT1437375	hsa-miR-15a	CLIP-seq
MIRT1437376	hsa-miR-15b	CLIP-seq
MIRT1437377	hsa-miR-16	CLIP-seq
MIRT1437380	hsa-miR-194	CLIP-seq
MIRT1437381	hsa-miR-195	CLIP-seq
MIRT1437386	hsa-miR-200b	CLIP-seq
MIRT1437387	hsa-miR-200c	CLIP-seq
MIRT2646111	hsa-miR-2052	CLIP-seq
MIRT1437390	hsa-miR-212	CLIP-seq
MIRT1437391	hsa-miR-214	CLIP-seq
MIRT2131063	hsa-miR-302f	CLIP-seq
MIRT1437395	hsa-miR-3074-5p	CLIP-seq
MIRT2131065	hsa-miR-3160-3p	CLIP-seq
MIRT1437400	hsa-miR-3170	CLIP-seq
MIRT1437408	hsa-miR-3591-3p	CLIP-seq
MIRT1437411	hsa-miR-3619-5p	CLIP-seq
MIRT1437422	hsa-miR-3942-3p	CLIP-seq
MIRT1437426	hsa-miR-424	CLIP-seq
MIRT1437431	hsa-miR-4276	CLIP-seq
MIRT1437435	hsa-miR-429	CLIP-seq
MIRT2352352	hsa-miR-433	CLIP-seq
MIRT1437437	hsa-miR-4422	CLIP-seq
MIRT2352354	hsa-miR-4434	CLIP-seq
MIRT2646114	hsa-miR-4477a	CLIP-seq
MIRT1437445	hsa-miR-4487	CLIP-seq
MIRT1437449	hsa-miR-4509	CLIP-seq
MIRT2352356	hsa-miR-4516	CLIP-seq
MIRT2693524	hsa-miR-4639-5p	CLIP-seq
MIRT1437458	hsa-miR-4643	CLIP-seq
MIRT2352357	hsa-miR-4659a-5p	CLIP-seq
MIRT2352358	hsa-miR-4659b-5p	CLIP-seq
MIRT1437465	hsa-miR-466	CLIP-seq
MIRT2646116	hsa-miR-4705	CLIP-seq
MIRT2352361	hsa-miR-4722-5p	CLIP-seq
MIRT1437483	hsa-miR-4766-5p	CLIP-seq
MIRT2352362	hsa-miR-4768-3p	CLIP-seq
MIRT2352363	hsa-miR-4776-3p	CLIP-seq
MIRT1437487	hsa-miR-4789-3p	CLIP-seq
MIRT1437489	hsa-miR-486-5p	CLIP-seq
MIRT1437490	hsa-miR-497	CLIP-seq
MIRT1437511	hsa-miR-548k	CLIP-seq
MIRT2131076	hsa-miR-556-5p	CLIP-seq
MIRT2131077	hsa-miR-558	CLIP-seq
MIRT2131080	hsa-miR-595	CLIP-seq
MIRT2646118	hsa-miR-607	CLIP-seq
MIRT1437520	hsa-miR-609	CLIP-seq
MIRT1437522	hsa-miR-622	CLIP-seq
MIRT1437524	hsa-miR-635	CLIP-seq
MIRT2131082	hsa-miR-642b	CLIP-seq
MIRT1437527	hsa-miR-761	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	21391237, 25416956, 25910212, 26871637, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006629	Process	Lipid metabolic process	IBA
GO:0016020	Component	Membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21391237
GO:0045087	Process	Innate immune response	IEA
GO:0071763	Process	Nuclear membrane organization	IBA
GO:0071763	Process	Nuclear membrane organization	IDA	18230648
GO:0071763	Process	Nuclear membrane organization	IEA

MIM	HGNC	e!Ensembl
612048	28472	ENSG00000170876

Q9BTV4

Protein name

Transmembrane protein 43 (Protein LUMA)

Protein function

May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of in

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07787	TMEM43	121 → 373	Transmembrane protein 43	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}.

Sequence

MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKT
ATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVE
MYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMA
TAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLR
VSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRE
LRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLT
LLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE

Sequence length

400

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

1743

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Pathogenic	rs63750743	RCV000039375
Arrhythmogenic right ventricular dysplasia 5	Pathogenic; Likely pathogenic	rs63750743, rs1304467714	RCV000000770 RCV002466284
Cardiomyopathy	Pathogenic	rs63750743	RCV001181315
Cardiovascular phenotype	Pathogenic	rs63750743	RCV000621202
Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Likely pathogenic	rs2470179437	RCV003887821
Familial isolated arrhythmogenic right ventricular dysplasia	Pathogenic	rs63750743	RCV000588763
Hypertrophic cardiomyopathy	Pathogenic	rs63750743	RCV001254741
Primary dilated cardiomyopathy	Pathogenic	rs63750743	RCV001375655

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Auditory neuropathy, autosomal dominant 3	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs766792876, rs2124997454, rs1559361931, rs990243563, rs1695151947, rs35924492, rs544554435, rs730880225, rs139842014, rs730880226, rs730880227, rs144334386, rs148171303, rs145619906, rs367910936 View all (45 more)	RCV002493842 RCV002488184 RCV002503516 RCV002482748 RCV002487027 RCV002498740 RCV002484950 RCV002492612 RCV002492613 RCV002484963 RCV005394538 RCV002492722 RCV002500552 RCV002503721 RCV002485232 RCV002492830 RCV005025293 RCV002500701 RCV002494784 RCV002483425 RCV002502318 RCV005036973 RCV002506021 RCV002221536 RCV002489205 RCV002476153 RCV002490426 RCV002482923 RCV002490427 RCV002491297 RCV002477353 RCV002493003 RCV002483005 RCV002490538 RCV002477110 RCV002504905 RCV002490539 RCV002496628 RCV002487667 RCV002501053 RCV002487744 RCV002495098 RCV002479181 RCV002479182 RCV002497478 RCV002505592 RCV002504216 RCV002491572 RCV002483956 RCV002491545 RCV002491573 RCV002491560 RCV002497665 RCV002504205 RCV002505782 RCV003224522 RCV002484161 RCV002491713 RCV003333139 RCV005025117
Cervical cancer	Conflicting classifications of pathogenicity	rs143124744	RCV005895415
Emery-Dreifuss muscular dystrophy 2, autosomal dominant	Uncertain significance	rs374202326	RCV003339529
Left ventricular noncompaction cardiomyopathy	Uncertain significance	rs765762863	RCV000853136
Long QT syndrome	Uncertain significance	rs730880225	RCV000157521
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs150334659	RCV005888493
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs562700595	RCV000157522
Sarcoma	Uncertain significance; Benign	rs2470184393, rs78942892	RCV005931607 RCV005902240
See cases	Uncertain significance	rs769722980	RCV002252718
Squamous cell lung carcinoma	Conflicting classifications of pathogenicity	rs774276092	RCV005897606
Sudden cardiac arrest	Benign; Likely benign	rs35924492, rs11924644	RCV000852956 RCV000852957
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs749727938	RCV005908926
TMEM43-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs1301098386, rs182351748, rs373590238, rs141675061, rs532872056, rs754797146, rs570836197, rs139590716, rs370422391, rs201217046, rs143124744, rs757651177, rs1553602871, rs570799464, rs149883381 View all (11 more)	RCV004749885 RCV003895044 RCV004748605 RCV003965133 RCV003975186 RCV004748641 RCV003947549 RCV003937652 RCV003937842 RCV003939886 RCV004748679 RCV003962528 RCV003394398 RCV003969989 RCV003957775 RCV003942330 RCV003932573 RCV004748803 RCV004748859 RCV003934940 RCV004748545 RCV003411712 RCV003975443 RCV004749599 RCV003396797 RCV003918844

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	31663907
Anxiety	Associate	34500452
Arrhythmogenic Right Ventricular Dysplasia	Associate	15680719, 18313022, 20124997, 21636032, 25343256, 25445213, 32062046, 33831308, 34500452, 34930282, 38166344, 40055648
Arrhythmogenic Right Ventricular Dysplasia Familial 5	Associate	18313022, 25343256, 32062046, 32858485
Arthritis Rheumatoid	Associate	33482886
Breast Neoplasms	Associate	16643655, 30735795, 36304471, 37209182
Cardiomyopathy Dilated	Associate	32916098, 34486814
Death Sudden Cardiac	Associate	20435227, 32062046, 34930282
Hearing Disorders	Associate	35364395
Hearing Loss	Associate	35364395
Heart Failure	Associate	18313022
Lymphoproliferative Disorders	Associate	32062046
Multiple Pterygium Syndrome Autosomal Dominant	Associate	25343256
Neoplasms	Associate	16643655, 35260078
Pancreatic Neoplasms	Stimulate	35260078
Ventricular Dysfunction Left	Associate	32062046, 38166344
Ventricular Dysfunction Right	Associate	38166344
Ventricular Remodeling	Associate	34930282

TMEM43 (transmembrane protein 43)