Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2006
Gene name	Elastin
Gene symbol	ELN
Synonyms (NCBI Gene)	ADCL1SVASWBSWS
Chromosome	7
Chromosome location	7q11.23
Summary	This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encod

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137854452	C>T	Pathogenic	Coding sequence variant, stop gained
rs137854454	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs137854455	A>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs137953195	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140337204	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs201012726	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs397516433	C>G,T	Pathogenic	Intron variant
rs727503022	->C	Pathogenic	Coding sequence variant, frameshift variant
rs727503023	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503024	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503026	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs727503027	A>G	Pathogenic	Splice acceptor variant
rs727503028	->G	Pathogenic	Coding sequence variant, frameshift variant
rs727503029	G>A,T	Pathogenic	Intron variant, splice acceptor variant
rs727503030	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Intron variant, splice donor variant
rs727503031	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs727504419	T>C	Pathogenic	Splice donor variant
rs727504433	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504434	A>C,G	Pathogenic	Splice acceptor variant
rs727504581	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880355	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs782096458	A>C	Likely-pathogenic	Splice acceptor variant
rs782238674	G>A,T	Likely-pathogenic	Splice donor variant
rs794729201	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863223513	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs863223518	T>C	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs863223519	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs863223520	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs863223521	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223522	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223526	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223527	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs863223528	->C	Pathogenic	Coding sequence variant, frameshift variant
rs878854452	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039351	A>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs886044834	CAGCTGCAGCAGCAGCC>GCT	Pathogenic	Coding sequence variant, frameshift variant
rs1064793880	C>T	Pathogenic	Missense variant, coding sequence variant
rs1131691482	G>A	Likely-pathogenic	Splice donor variant
rs1400530335	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1554666513	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554669297	GC>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554669800	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554672587	A>T	Pathogenic	Coding sequence variant, stop gained
rs1554672602	GT>AG	Pathogenic	Splice donor variant
rs1554676454	A>G	Pathogenic	Coding sequence variant, missense variant
rs1554680190	G>T	Likely-pathogenic	Splice donor variant
rs1554688700	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1563793627	CCTGCCTTCCTACACTCACTGCTTTGTCCCCCGGCAGG>-	Likely-pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs1563826213	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1563836689	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1583818183	G>A	Likely-pathogenic	Splice acceptor variant
rs1583822018	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1583873953	TTGGTGTCCCAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584494326	T>C,G	Pathogenic	Intron variant, splice donor variant

251

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miRTarBase ID	miRNA	Experiments	Reference
MIRT438377	hsa-miR-195-5p	Luciferase reporter assayWestern blotqRT-PCR	25201911
MIRT438377	hsa-miR-195-5p	Luciferase reporter assayWestern blotqRT-PCR	25201911
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT658718	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT711820	hsa-miR-4302	HITS-CLIP	19536157
MIRT711819	hsa-miR-342-5p	HITS-CLIP	19536157
MIRT711818	hsa-miR-4664-5p	HITS-CLIP	19536157
MIRT711817	hsa-miR-4651	HITS-CLIP	19536157
MIRT711816	hsa-miR-608	HITS-CLIP	19536157
MIRT711815	hsa-miR-6747-5p	HITS-CLIP	19536157
MIRT711814	hsa-miR-1293	HITS-CLIP	19536157
MIRT711813	hsa-miR-4483	HITS-CLIP	19536157
MIRT711812	hsa-miR-876-3p	HITS-CLIP	19536157
MIRT711811	hsa-miR-491-5p	HITS-CLIP	19536157
MIRT711810	hsa-miR-3151-5p	HITS-CLIP	19536157
MIRT711809	hsa-miR-4447	HITS-CLIP	19536157
MIRT711808	hsa-miR-4472	HITS-CLIP	19536157
MIRT711807	hsa-miR-6742-5p	HITS-CLIP	19536157
MIRT711806	hsa-miR-6737-5p	HITS-CLIP	19536157
MIRT711805	hsa-miR-6812-5p	HITS-CLIP	19536157
MIRT711804	hsa-miR-6819-5p	HITS-CLIP	19536157
MIRT711803	hsa-miR-6796-5p	HITS-CLIP	19536157
MIRT658718	hsa-miR-2115-3p	HITS-CLIP	23824327
MIRT961110	hsa-miR-3202	CLIP-seq
MIRT961111	hsa-miR-4640-5p	CLIP-seq
MIRT961112	hsa-miR-4726-5p	CLIP-seq
MIRT961113	hsa-miR-4747-5p	CLIP-seq
MIRT961114	hsa-miR-4765	CLIP-seq
MIRT961115	hsa-miR-520a-5p	CLIP-seq
MIRT961116	hsa-miR-525-5p	CLIP-seq
MIRT961117	hsa-miR-656	CLIP-seq
MIRT961118	hsa-miR-3130-3p	CLIP-seq
MIRT961119	hsa-miR-346	CLIP-seq
MIRT961120	hsa-miR-4288	CLIP-seq
MIRT961121	hsa-miR-4793-3p	CLIP-seq
MIRT961122	hsa-miR-632	CLIP-seq
MIRT961123	hsa-miR-767-5p	CLIP-seq
MIRT1548303	hsa-miR-1207-5p	CLIP-seq
MIRT1548304	hsa-miR-122	CLIP-seq
MIRT1548305	hsa-miR-1265	CLIP-seq
MIRT1548306	hsa-miR-1275	CLIP-seq
MIRT1548307	hsa-miR-2392	CLIP-seq
MIRT1548308	hsa-miR-4280	CLIP-seq
MIRT1548309	hsa-miR-4292	CLIP-seq
MIRT1548310	hsa-miR-4476	CLIP-seq
MIRT1548311	hsa-miR-4525	CLIP-seq
MIRT1548312	hsa-miR-4665-5p	CLIP-seq
MIRT1548313	hsa-miR-4723-5p	CLIP-seq
MIRT1548314	hsa-miR-4763-3p	CLIP-seq
MIRT1548315	hsa-miR-615-5p	CLIP-seq
MIRT1548316	hsa-miR-625	CLIP-seq
MIRT1548317	hsa-miR-637	CLIP-seq
MIRT961118	hsa-miR-3130-3p	CLIP-seq
MIRT961121	hsa-miR-4793-3p	CLIP-seq
MIRT2219655	hsa-miR-181a	CLIP-seq
MIRT2219656	hsa-miR-181b	CLIP-seq
MIRT2219657	hsa-miR-181c	CLIP-seq
MIRT2219658	hsa-miR-181d	CLIP-seq
MIRT2219659	hsa-miR-29a	CLIP-seq
MIRT2219660	hsa-miR-29b	CLIP-seq
MIRT2219661	hsa-miR-29c	CLIP-seq
MIRT2219662	hsa-miR-4262	CLIP-seq
MIRT2219663	hsa-miR-515-5p	CLIP-seq
MIRT2428522	hsa-miR-1292	CLIP-seq
MIRT2428523	hsa-miR-4471	CLIP-seq
MIRT2523164	hsa-miR-1193	CLIP-seq
MIRT1548303	hsa-miR-1207-5p	CLIP-seq
MIRT1548304	hsa-miR-122	CLIP-seq
MIRT2523165	hsa-miR-1246	CLIP-seq
MIRT2523166	hsa-miR-1255a	CLIP-seq
MIRT2523167	hsa-miR-1255b	CLIP-seq
MIRT1548305	hsa-miR-1265	CLIP-seq
MIRT1548306	hsa-miR-1275	CLIP-seq
MIRT2523168	hsa-miR-1283	CLIP-seq
MIRT2523169	hsa-miR-140-5p	CLIP-seq
MIRT2523170	hsa-miR-1827	CLIP-seq
MIRT2523171	hsa-miR-184	CLIP-seq
MIRT2523172	hsa-miR-199a-5p	CLIP-seq
MIRT2523173	hsa-miR-199b-5p	CLIP-seq
MIRT1548307	hsa-miR-2392	CLIP-seq
MIRT961118	hsa-miR-3130-3p	CLIP-seq
MIRT2523174	hsa-miR-3134	CLIP-seq
MIRT2523175	hsa-miR-3144-5p	CLIP-seq
MIRT2523176	hsa-miR-3151	CLIP-seq
MIRT2523177	hsa-miR-3191	CLIP-seq
MIRT2523178	hsa-miR-3545-5p	CLIP-seq
MIRT2523179	hsa-miR-3612	CLIP-seq
MIRT2523180	hsa-miR-3937	CLIP-seq
MIRT2523181	hsa-miR-3938	CLIP-seq
MIRT1548308	hsa-miR-4280	CLIP-seq
MIRT1548309	hsa-miR-4292	CLIP-seq
MIRT2523182	hsa-miR-4320	CLIP-seq
MIRT2523183	hsa-miR-4443	CLIP-seq
MIRT2523184	hsa-miR-4460	CLIP-seq
MIRT1548311	hsa-miR-4525	CLIP-seq
MIRT2523185	hsa-miR-4652-5p	CLIP-seq
MIRT1548312	hsa-miR-4665-5p	CLIP-seq
MIRT2523186	hsa-miR-4667-5p	CLIP-seq
MIRT2523187	hsa-miR-4700-5p	CLIP-seq
MIRT1548313	hsa-miR-4723-5p	CLIP-seq
MIRT2523188	hsa-miR-4761-5p	CLIP-seq
MIRT1548314	hsa-miR-4763-3p	CLIP-seq
MIRT2523189	hsa-miR-4790-3p	CLIP-seq
MIRT961121	hsa-miR-4793-3p	CLIP-seq
MIRT2523190	hsa-miR-4802-3p	CLIP-seq
MIRT2523191	hsa-miR-4804-5p	CLIP-seq
MIRT2523192	hsa-miR-490-5p	CLIP-seq
MIRT2523193	hsa-miR-541	CLIP-seq
MIRT2523194	hsa-miR-622	CLIP-seq
MIRT2523195	hsa-miR-624	CLIP-seq
MIRT1548316	hsa-miR-625	CLIP-seq
MIRT1548317	hsa-miR-637	CLIP-seq
MIRT2523196	hsa-miR-650	CLIP-seq
MIRT2523197	hsa-miR-654-5p	CLIP-seq
MIRT2523198	hsa-miR-940	CLIP-seq
MIRT2523164	hsa-miR-1193	CLIP-seq
MIRT1548303	hsa-miR-1207-5p	CLIP-seq
MIRT1548304	hsa-miR-122	CLIP-seq
MIRT2523165	hsa-miR-1246	CLIP-seq
MIRT2523166	hsa-miR-1255a	CLIP-seq
MIRT2523167	hsa-miR-1255b	CLIP-seq
MIRT1548305	hsa-miR-1265	CLIP-seq
MIRT1548306	hsa-miR-1275	CLIP-seq
MIRT2523168	hsa-miR-1283	CLIP-seq
MIRT2523169	hsa-miR-140-5p	CLIP-seq
MIRT2523170	hsa-miR-1827	CLIP-seq
MIRT2523171	hsa-miR-184	CLIP-seq
MIRT1548307	hsa-miR-2392	CLIP-seq
MIRT961118	hsa-miR-3130-3p	CLIP-seq
MIRT2523174	hsa-miR-3134	CLIP-seq
MIRT2523175	hsa-miR-3144-5p	CLIP-seq
MIRT2523177	hsa-miR-3191	CLIP-seq
MIRT2523178	hsa-miR-3545-5p	CLIP-seq
MIRT2523179	hsa-miR-3612	CLIP-seq
MIRT2523180	hsa-miR-3937	CLIP-seq
MIRT2523181	hsa-miR-3938	CLIP-seq
MIRT1548308	hsa-miR-4280	CLIP-seq
MIRT1548309	hsa-miR-4292	CLIP-seq
MIRT2523182	hsa-miR-4320	CLIP-seq
MIRT2523183	hsa-miR-4443	CLIP-seq
MIRT2523184	hsa-miR-4460	CLIP-seq
MIRT1548311	hsa-miR-4525	CLIP-seq
MIRT2523185	hsa-miR-4652-5p	CLIP-seq
MIRT1548312	hsa-miR-4665-5p	CLIP-seq
MIRT2523186	hsa-miR-4667-5p	CLIP-seq
MIRT2523187	hsa-miR-4700-5p	CLIP-seq
MIRT1548313	hsa-miR-4723-5p	CLIP-seq
MIRT2523188	hsa-miR-4761-5p	CLIP-seq
MIRT1548314	hsa-miR-4763-3p	CLIP-seq
MIRT2523189	hsa-miR-4790-3p	CLIP-seq
MIRT961121	hsa-miR-4793-3p	CLIP-seq
MIRT2523190	hsa-miR-4802-3p	CLIP-seq
MIRT2523191	hsa-miR-4804-5p	CLIP-seq
MIRT2523192	hsa-miR-490-5p	CLIP-seq
MIRT2523193	hsa-miR-541	CLIP-seq
MIRT2523194	hsa-miR-622	CLIP-seq
MIRT2523195	hsa-miR-624	CLIP-seq
MIRT1548316	hsa-miR-625	CLIP-seq
MIRT1548317	hsa-miR-637	CLIP-seq
MIRT2523196	hsa-miR-650	CLIP-seq
MIRT2523197	hsa-miR-654-5p	CLIP-seq
MIRT2523198	hsa-miR-940	CLIP-seq

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Transcription factor	Regulation	Reference
JUN	Unknown	12135766

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003151	Process	Outflow tract morphogenesis	IMP	8132745
GO:0003180	Process	Aortic valve morphogenesis	IEA
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0005201	Function	Extracellular matrix structural constituent	IEA
GO:0005201	Function	Extracellular matrix structural constituent	ISS
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231
GO:0005201	Function	Extracellular matrix structural constituent	TAS	9580666
GO:0005515	Function	Protein binding	IPI	11805834, 15790312, 16478991, 17035250, 17324935, 19570982, 30676771
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	9873040
GO:0008015	Process	Blood circulation	TAS	8096434, 9873040
GO:0009887	Process	Animal organ morphogenesis	TAS	9580666
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	RCA	27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	TAS	9580666
GO:0043149	Process	Stress fiber assembly	IEA
GO:0048660	Process	Regulation of smooth muscle cell proliferation	TAS	9607766
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0071953	Component	Elastic fiber	IDA	7534784, 10424889
GO:0071953	Component	Elastic fiber	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA
GO:0085029	Process	Extracellular matrix assembly	ISS

MIM	HGNC	e!Ensembl
130160	3327	ENSG00000049540

P15502

Protein name

Elastin (Tropoelastin)

Protein function

Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and org

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed within the outer myometrial smooth muscle and throughout the arteriolar tree of uterus (at protein level). Also expressed in the large arteries, lung and skin. {ECO:0000269|PubMed:8812460}.

Sequence

MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG
KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG
LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP
GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT
PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP
GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV
PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV
PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAP
GVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGL
GVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAA
VPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVP
GVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKA
CGRKRK

Sequence length

786

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells Protein digestion and absorption		Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres

1161

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cutis laxa, autosomal dominant 1	Likely pathogenic; Pathogenic	rs2131847938, rs2131266202, rs2132828209, rs794729201, rs886039351, rs1797225811, rs2486562061, rs199621188	RCV005038277 RCV002484807 RCV002225215 RCV000184020 RCV002282092 RCV000018210 RCV000018212 RCV002489542
ELN-related disorder	Likely pathogenic; Pathogenic	rs2131847938, rs886039351, rs2485451259, rs2486321745, rs2486525314	RCV004528527 RCV004529455 RCV004529791 RCV004528764 RCV004532142
Hepatocellular carcinoma	Likely pathogenic	rs782674700	RCV005913571
Supravalvar aortic stenosis	Likely pathogenic; Pathogenic	rs2130830261, rs782238674, rs2130826217, rs2131453910, rs2131856285, rs2131858633, rs2132059492, rs2132288547, rs2132320442, rs2131847938, rs2131603022, rs781859711, rs2131925210, rs2132135741, rs2132079396 View all (101 more)	RCV001378808 RCV001377290 RCV001385682 RCV001383978 RCV001380507 RCV001390684 RCV001391004 RCV001383410 RCV001389874 RCV001388157 RCV005038277 RCV001775217 RCV001868845 RCV001960620 RCV001894476 RCV001890278 RCV001949455 RCV001992655 RCV001895448 RCV003314033 RCV000150643 RCV000150642 RCV000150631 RCV000150632 RCV000150633 RCV000150635 RCV000150636 RCV000150637 RCV000150638 RCV000150640 RCV000150644 RCV000150645 RCV000150646 RCV000154614 RCV000154672 RCV000154673 RCV000155754 RCV000156058 RCV002471592 RCV002791601 RCV002810182 RCV002828973 RCV002839027 RCV002828843 RCV002835031 RCV002842390 RCV002876086 RCV002907979 RCV002890019 RCV002907742 RCV000627831 RCV005884280 RCV001067633 RCV001171311 RCV003030952 RCV000232952 RCV002518760 RCV001375937 RCV003319579 RCV003391165 RCV003518099 RCV003518465 RCV003518638 RCV003518760 RCV003516945 RCV003517641 RCV003631692 RCV003631650 RCV003631709 RCV003631757 RCV003631886 RCV003632147 RCV003632030 RCV003632885 RCV000018206 RCV000018208 RCV000018209 RCV002513096 RCV000018214 RCV003867371 RCV000018215 RCV000018216 RCV004018341 RCV004566626 RCV004577297 RCV004594950 RCV000022536 RCV000530257 RCV000560237 RCV000614385 RCV000601198 RCV000627823 RCV000627826 RCV000036528 RCV000705833 RCV000704251 RCV000706351 RCV000795925 RCV000808443 RCV000798399 RCV001056671 RCV001057403 RCV001042858 RCV001055146 RCV001036361 RCV001053083 RCV001066645 RCV001037783 RCV001062655 RCV001064599 RCV001222647 RCV001216928 RCV001231636 RCV001235671 RCV001241642 RCV001242994 RCV001253424 RCV001269130 RCV001290140
Williams syndrome	Likely pathogenic; Pathogenic	rs2131266202, rs199621188, rs1794880739	RCV002484807 RCV002489542 RCV001196683

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal digit morphology	Conflicting classifications of pathogenicity	rs727503030	RCV000626794
Ascending tubular aorta aneurysm	Uncertain significance	rs782185396	RCV000415437
Cardiomyopathy	Conflicting classifications of pathogenicity	rs145519139	RCV006255162
Cardiovascular phenotype	Uncertain significance	rs781929514	RCV005406038
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity	rs56240724, rs781877758, rs727503030	RCV005917480 RCV005924255 RCV005888326
Clear cell carcinoma of kidney	Benign	rs111866046	RCV005892434
Colon adenocarcinoma	Uncertain significance; Benign	rs782126415, rs111866046	RCV005922520 RCV005892432
Colorectal cancer	Benign; Likely benign	rs17855988	RCV005888483
Cutis laxa, autosomal dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs17855988, rs41410045, rs61734584, rs41362346, rs111866046, rs10579871, rs10233395, rs62476387, rs34208922, rs8326, rs574934142, rs537200597, rs147367888, rs149755814, rs886062436 View all (4 more)	RCV000383163 RCV000406190 RCV000260725 RCV000370562 RCV000272146 RCV000282463 RCV000392594 RCV000327858 RCV000309591 RCV000391149 RCV000265718 RCV000407475 RCV000276683 RCV000393115 RCV000324956 RCV000279056 RCV000293893 RCV000270892 RCV000315428 RCV005863222 RCV000319237 RCV000323541 RCV000283343
Dural ectasia	Conflicting classifications of pathogenicity	rs727503030	RCV000626794
Familial atrioventricular septal defect	Conflicting classifications of pathogenicity	rs137953195	RCV000984480
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	rs782359367, rs375277198	RCV005924273 RCV005907003
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	rs782279081	RCV001281373
Gastric cancer	Benign; Likely benign	rs529133775, rs41350445, rs569004868	RCV005921281 RCV005889016 RCV005901691
Hypertelorism	Conflicting classifications of pathogenicity	rs727503030	RCV000626794
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs56240724, rs111866046, rs782770862	RCV005917485 RCV005893428 RCV005899953
Lymphoma	Likely benign	rs56240724	RCV005917483
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs17855988	RCV005888482
Malignant tumor of esophagus	Benign; Likely benign	rs111866046, rs41350445	RCV005892433 RCV005889014
Nonpapillary renal cell carcinoma	Likely benign; Benign	rs56240724, rs202142516	RCV005917479 RCV005922326
Ovarian cancer	Likely benign	rs56240724	RCV005917481
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs56240724, rs111866046	RCV005917484 RCV005892435
Sarcoma	Likely benign; Benign	rs56240724, rs41350445	RCV005917482 RCV005889015
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs782630866, rs185060213, rs781963901	RCV002252863 RCV002252183 RCV004584408
Thymoma	Uncertain significance	rs782126415	RCV005922521
Thyroid cancer, nonmedullary, 1	Likely benign; Conflicting classifications of pathogenicity	rs202194806, rs782794260	RCV005912792 RCV005931073
Uterine carcinosarcoma	Benign; Likely benign	rs529133775, rs148846464	RCV005921282 RCV005904101
Uterine corpus endometrial carcinoma	Likely benign	rs56240724, rs148846464	RCV005917486 RCV005904102
Vascular dilatation	Uncertain significance	rs782185396	RCV000415437
Venous malformation	Conflicting classifications of pathogenicity	rs727503030	RCV000626794

Show/Hide Text Mining Associations (153)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	20425789, 2180284
Acute Aortic Syndrome	Inhibit	40581980
Adenocarcinoma	Associate	34397867, 39938232
Adrenal Hyperplasia Congenital	Associate	26075496
Adrenal Insufficiency	Associate	32212852, 34238994
Airway Remodeling	Associate	39354494
alpha 1 Antitrypsin Deficiency	Associate	20525711, 23560990
Aneurysm	Associate	20663866
Anterior Wall Myocardial Infarction	Associate	9835614
Aortic Aneurysm	Associate	16085695
Aortic Aneurysm Abdominal	Associate	14681644, 22804761, 24080131, 31473210, 9835614
Aortic Aneurysm Familial Abdominal 1	Associate	31703088
Aortic Aneurysm Thoracic	Associate	30957625
Aortic Aneurysm Thoracoabdominal	Associate	39795873
Aortic Diseases	Associate	16085695, 23764410
Aortic Dissection	Associate	19755752, 21276682, 30957625, 34148881
Aortic Rupture	Associate	16085695
Aortic Stenosis Supravalvular	Associate	10542079, 12016585, 17037986, 19568270, 19844261, 20425789, 22891920, 23049958, 23433766, 23793710, 25428557, 26014430, 27866049, 31560829, 35760456, 37980465, 8132745, 8475063, 9004128 View all (4 more)
Aortic Valve Stenosis	Associate	23868161, 29614955
Arterial Occlusive Diseases	Associate	12016585, 7674473
Arteriosclerosis	Associate	22998683
Asthma	Associate	26074138
Atherosclerosis	Associate	19755752, 30529831, 9691094
Barlow syndrome	Associate	28417861
Bazex Dupre Christol syndrome	Inhibit	3973023
Bicuspid Aortic Valve Disease	Associate	23764410
Blepharoptosis	Associate	35676638
Bone Diseases	Associate	25029575
Breast Neoplasms	Associate	30207088
Bronchiectasis	Associate	27684511
Bronchiolitis Obliterans	Associate	18268933
Buschke Ollendorff syndrome	Associate	1629625, 17087626
Capillary Malformation Arteriovenous Malformation	Associate	30573741
Carcinoma Intraductal Noninfiltrating	Associate	30207088
Cardiomyopathy Dilated	Associate	26984942, 29614955
Cardiovascular Abnormalities	Associate	25029575, 37980465
Cardiovascular Diseases	Associate	14666267, 23049958, 25371518, 37328513
Carotid Artery Injuries	Associate	19568270
Carotid Intimal Medial Thickness 1	Associate	12016585
Cerebral Amyloid Angiopathy	Associate	26988843
Chromosome Disorders	Associate	29986708
Chronic Disease	Stimulate	34080027
Connective Tissue Diseases	Associate	37328513, 8812460
Constriction Pathologic	Associate	16532385, 23283491, 32212852
Costello Syndrome	Associate	10712202, 21880723
Cutis Laxa	Associate	15955094, 16085695, 39354494, 7930686
Cutis Laxa Autosomal Dominant	Associate	21309044, 23049958, 23442826, 37980465, 39354494
Cutis Laxa Autosomal Recessive Type I	Associate	19321599
Cystic Fibrosis	Associate	20347403
Deafness Mid Tone Neural	Associate	36460951
Death	Associate	36226731
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	16532385, 22891920, 23433766
Diabetes Mellitus Type 2	Associate	25371518, 31461977
Disease	Associate	29483232
Dissection Thoracic Aorta	Associate	22960022
Ehlers Danlos Syndrome Type IV	Associate	38183136
Emphysema	Associate	19029017, 23442826
Endocardial Fibroelastosis	Associate	34171049
Exfoliation Syndrome	Associate	20051886
FACES syndrome	Associate	27828630
Fibroma	Associate	27828630
Fibrosarcoma	Associate	24874477
Fibrosis	Associate	19885059, 31638980, 37240308
Fragile X Syndrome	Associate	7174792
Genetic Diseases Inborn	Associate	37980465
Glioblastoma	Associate	15494095
Growth Disorders	Associate	37328513
Hamman Rich Syndrome	Associate	24899048
Heart Defects Congenital	Associate	22318994, 34238994
Heart Failure	Associate	37334749
Heart Septal Defects Atrial	Associate	34238994
Hemangioma Cavernous Central Nervous System	Associate	7604043
Hereditary Breast and Ovarian Cancer Syndrome	Associate	35598370
Hernia	Associate	20425789
Hernia Inguinal	Associate	34392144, 35680855, 37980465
Hoarseness	Associate	20425789
Hypercalcemia	Associate	25029575
Hyperplasia	Stimulate	18268933
Hypertension	Associate	16532385
Hypertension Pulmonary	Associate	25133308
Hypospadias	Associate	39909126
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	22288597
Immunologic Deficiency Syndromes	Associate	22095981, 28417861
Inflammation	Associate	28714016, 33435988
Intervertebral disc disease	Associate	35703510
Intracranial Aneurysm	Associate	27866049, 29129841
Intracranial Arterial Diseases	Associate	23868161
Joint Diseases	Associate	20425789
Joint Instability	Associate	23442826
Leukemia	Stimulate	37930337
Leukemia Biphenotypic Acute	Associate	37930337
Leukemia Myeloid Acute	Associate	35280440
Loeys Dietz Syndrome	Associate	21267002
Lumbar Stenosis Familial	Associate	19885059, 31638980
Lumbar Stenosis Familial	Inhibit	33568575
Lung Diseases	Associate	15955094, 20525711
Lymphatic Metastasis	Associate	36226731
Macular Degeneration	Associate	24866589
Malignant mesenchymal tumor	Associate	3361140
Marfan Syndrome	Associate	16905551, 2180284, 2180285, 39795873, 7174792
Melanoma	Associate	15009703, 16675961
Mitral Valve Prolapse	Associate	10521289
Monckeberg Medial Calcific Sclerosis	Associate	31461977
Multiple Pterygium Syndrome Autosomal Dominant	Associate	15955094
Muscle Neoplasms	Associate	32212852
Muscular Dystrophy Duchenne	Associate	34922439
Neoplasm Metastasis	Associate	8362969
Neoplasms	Associate	15009703, 30207088, 36226731, 36973787, 39938232, 8362969
Nerve Sheath Neoplasms	Associate	35676638
Nervous System Diseases	Associate	25029575
Neuroblastoma	Associate	31161598, 37918553
Obesity	Inhibit	21994960
Oral Submucous Fibrosis	Associate	34798886
Osteogenesis imperfecta type 1A	Associate	11536080
Pelvic Organ Prolapse	Inhibit	28656271
Pelvic Organ Prolapse	Stimulate	32635512
Penile Induration	Associate	20367772
Plaque Atherosclerotic	Associate	19755752, 7674473, 9691094
Polypoidal Choroidal Vasculopathy	Associate	25775011
Progeria	Associate	3361140
Progeroid syndrome neonatal	Stimulate	3361140
Prostatitis	Associate	37240308
Pseudoxanthoma Elasticum	Associate	32372237
Pulmonary Arterial Hypertension	Associate	12219191
Pulmonary Disease Chronic Obstructive	Associate	19029017, 19909533, 20525711, 20663866, 22117690, 33435988
Pulmonary Disease Chronic Obstructive	Stimulate	19357152
Pulmonary Emphysema	Associate	1465752, 15955094, 18259971
Renal Artery Obstruction	Associate	32212852
Rupture	Associate	14681644
Schimke immunoosseous dysplasia	Associate	22998683
Sclerosis	Associate	22288597
Signs and Symptoms Digestive	Associate	37328513
Smooth Muscle Tumor	Associate	26610870
Spinal Stenosis	Associate	19885059, 30985713
Stenosis Pulmonary Artery	Associate	34238994, 37980465
Stenosis Pulmonary Vein	Associate	38619205
Stomach Neoplasms	Associate	36226731
Stroke	Associate	17672902, 40650005
Syndrome	Associate	29483232
Temporomandibular Joint Disorders	Associate	28714016
Thyroid Neoplasms	Associate	16877360
Urinary Bladder Diseases	Associate	20425789
Urinary Bladder Neoplasms	Associate	33184436, 36973787, 38216619
Urologic Diseases	Associate	25029575
Uterine Prolapse	Associate	18158636
Varicose Veins	Associate	24785109
Varicose Veins	Inhibit	38619205
Vascular Calcification	Associate	18174662, 26610870, 31461977
Vascular Diseases	Associate	14681644, 34238994, 8689688
Vascular Ring	Associate	30985713
Vascular System Injuries	Associate	12219191, 25133308
Williams Syndrome	Associate	10874638, 12161592, 12219191, 15557730, 16532385, 20425789, 22891920, 23049958, 23283491, 23433766, 23868161, 24065682, 25029575, 25428557, 29614955 View all (13 more)
Williams Syndrome	Inhibit	24126171

ELN (elastin)