ELN (elastin)

Gene

• Entrez ID: 2006
• Gene name: Elastin
• Gene symbol: ELN
• Synonyms (NCBI Gene): ADCL1, SVAS, WBS, WS
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438377	hsa-miR-195-5p	Luciferase reporter assay, Western blot, qRT-PCR	25201911
MIRT438377	hsa-miR-195-5p	Luciferase reporter assay, Western blot, qRT-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

Transcription factors

Transcription factor	Regulation	Reference
JUN	Unknown	12135766

Gene ontology (GO)

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

Other IDs

• MIM: 130160
• HGNC: 3327
• e!Ensembl: ENSG00000049540

Protein

• UniProt ID: 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
• 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

Pathways

KEGG:

Cytoskeleton in muscle cells
Protein digestion and absorption

Reactome:

Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres

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
Cutis laxa, autosomal dominant 1	Likely pathogenic; Pathogenic	rs2131847938, rs2131266202, rs2132828209, rs794729201, rs886039351, rs1797225811, rs2486562061, rs199621188	RCV005038277 RCV002484807 RCV002225215 RCV000184020 RCV002282092 RCV000018210 RCV000018212 RCV002489542	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ELN-related disorder	Likely pathogenic; Pathogenic	rs2131847938, rs886039351, rs2485451259, rs2486321745, rs2486525314	RCV004528527 RCV004529455 RCV004529791 RCV004528764 RCV004532142	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs782674700	RCV005913571	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Supravalvar aortic stenosis	Likely pathogenic; Pathogenic	rs2130830261, rs782238674, rs2130826217, rs2131453910, rs2131856285, rs2131858633, rs2132059492, rs2132288547, rs2132320442, rs2131847938, rs2131603022, rs781859711, rs2131925210, rs2132135741, rs2132079396, rs2131266202, rs372889752, rs2131151265, rs2132828209, rs727503783, rs727503782, rs727503022, rs727503023, rs727503024, rs727503026, rs727503027, rs727503028, rs727503029, rs727503031, rs727503033, rs727503034, rs727503035, rs727504419, rs727504433, rs727504434, rs727504581, rs730880355, rs2485893388, rs565632539, rs2486322571, rs2486283813, rs2484445815, rs2484780987, rs2486318296, rs2486021154, rs2485385183, rs1554669592, rs1284902357, rs2485385008, rs863223518, rs527441189, rs863223520, rs200862792, rs1554669770, rs878854452, rs137854454, rs886039351, rs2484444517, rs2486383085, rs2485967112, rs2485140568, rs2486027825, rs2484435508, rs2484908782, rs1584494326, rs2485448490, rs2486022848, rs2485518873, rs2485519560, rs2486723583, rs2486286311, rs2485449620, rs2485516621, rs137854452, rs2486324663, rs2132322943, rs2486562061, rs1563826213, rs2485343633, rs137854455, rs782707801, rs2486325853, rs2485064649, rs2484783425, rs1554686162, rs1554669800, rs1554672602, rs1554672587, rs1554666513, rs1554669297, rs1554676454, rs397516433, rs1400530335, rs1563836689, rs1563793627, rs1583959262, rs1583818183, rs1787875866, rs1791626037, rs1794096639, rs1794104889, rs199621188, rs1795205877, rs1797063858, rs782528759, rs1797218441, rs782674700, rs782390271, rs1793092853, rs1791633917, rs1794108907, rs1791508570, rs1554669774, rs1131691482, rs1795220933, rs1794129841	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Williams syndrome	Likely pathogenic; Pathogenic	rs2131266202, rs199621188, rs1794880739	RCV002484807 RCV002489542 RCV001196683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormal digit morphology	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS, SUPRAVALVULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ascending tubular aorta aneurysm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIOVENTRICULAR SEPTAL DEFECT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CUTIS LAXA	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABNORMALITY OF VEIN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STENOSIS OF AORTIC VALVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, autosomal dominant	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DERMATITIS HERPETIFORMIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGESTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dural ectasia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXUDATIVE AGE-RELATED MACULAR DEGENERATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrioventricular septal defect	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thoracic aortic aneurysm and aortic dissection	Conflicting classifications of pathogenicity	ClinVar Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GIANT CELL ARTERITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMORRHOID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertelorism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC POLYMYOSITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYMYOSITIS OSSIFICANS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC AORTIC STENOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED ABDOMINAL AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RUPTURED THORACIC AORTIC ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THORACOABDOMINAL AORTIC ANEURYSM, RUPTURED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VARICOSITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dilatation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous malformation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS-BEUREN SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations