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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ELN Gene

protein-coding GIFtS: 66
GCID: GC07P073442

elastin

Explore 164 diseases affiliated with
ELN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Elastin¹
SVAS¹ ²
WBS¹ ²
WS¹ ²
Tropoelastin³
Tropoelastin³

External Ids:	HGNC: 3327¹	Entrez Gene: 2006²	Ensembl: ENSG00000049540⁷	OMIM: 130160⁵	UniProtKB: P15502³

Export aliases for ELN gene to outside databases

Previous GC identifers: GC07P072082 GC07P072840 GC07P072854 GC07P072887 GC07P073080 GC07P069326

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ELN:

This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in

hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks

between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS)

and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this

gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ELN_HUMAN, P15502

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 organization of vascular smooth muscle (By similarity)

Gene Wiki entry for ELN (Elastin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ELN gene promoter:
TBP RP58 C/EBPbeta FOXF2 ATF-2 MyoD MIF-1 AP-2gamma Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ELN promoter sequence

Search SABiosciences Chromatin IP Primers for ELN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ELN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.1-q21.1

ELN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ELN gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P073442: view genomic region (about GC identifiers)

Start:	73,442,119 bp from pter	End:	73,484,237 bp from pter
Size:	42,119 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 72,775,499-72,817,309

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ELN_HUMAN, P15502 (See protein sequence)

Recommended Name: Elastin precursor

Size: 786 amino acids; 68469 Da

Subunit: The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex

with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium > magnesium > manganese) in a dose-dependent

and saturating manner

Subcellular location: Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers

Sequence caution: Sequence=CAD98065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: B3KTS6 O15336 O15337 Q14233 Q14234 Q14235 Q14238 Q6P0L4 Q6ZWJ6 Q75MU5 Q7Z316

Q7Z3F5 Q9UMF5

Alternative splicing: 13 isoforms: P15502-3 P15502-1 P15502-2 P15502-4 P15502-5 P15502-6 P15502-7 P15502-8

P15502-9 P15502-10 P15502-11 P15502-12 P15502-13 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ELN: NX_P15502

Post-translational modifications:

Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through

the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with

other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross-links. The most

abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine¹

Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the

requirement for 4-hydroxylation in vertebrates (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15502

ELN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000492.2 NP_001075221.1 NP_001075222.1 NP_001075223.1 NP_001075224.1

ENSEMBL proteins:

ENSP00000389857 ENSP00000252034 ENSP00000394549 ENSP00000315607 ENSP00000406949

ENSP00000389206 ENSP00000392575 ENSP00000369936 ENSP00000369949 ENSP00000369958

ENSP00000403162 ENSP00000349540 ENSP00000411092 ENSP00000391129 ENSP00000404138

ENSP00000403961 ENSP00000369926 ENSP00000369950 ENSP00000399499 ENSP00000313565

ENSP00000412262 ENSP00000351807 ENSP00000403940

Reactome Protein details: P15502
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for ELN
	GenScript Custom Purified and Recombinant Proteins Services for ELN
	Novus Biologicals ELN Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ELN

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	--	--
GO:0005578	proteinaceous extracellular matrix	NAS	--
GO:0005626	insoluble fraction	--	--
GO:0005739	mitochondrion	IEA	--
GO:0071953	elastic fiber	IEA	--

ELN for ontologies About GeneDecksing

ELN Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ELN
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for ELN
	GenScript Custom Superior Antibodies Services for ELN
	Novus Biologicals ELN Antibodies
	Search for Antibodies for ELN at Abcam
	Uscn Antibodies for ELN
	ThermoFisher Antibodies for ELN

Assay Products for ELN:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ELN
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ELN

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ELN for domains About GeneDecksing

1 InterPro domain/family:

IPR003979 Tropoelastin

Graphical View of Domain Structure for InterPro Entry P15502

ProtoNet protein and cluster: P15502

2 Blocks protein families:

IPB001451 Bacterial transferase hexapeptide repeat

IPB003979 Tropoelastin signature

UniProtKB/Swiss-Prot: ELN_HUMAN, P15502

Similarity: Belongs to the elastin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ELN_HUMAN, P15502

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 organization of vascular smooth muscle (By similarity)

Genatlas biochemistry entry for ELN:

elastin,expressed during third trimester of fetal development and early postnatal years,synthesized by the smooth

muscle secreted as tropo-elastin,organized into insoluble polymers forming elastic lamellae around the arterial lumen

miRNA Products:		OriGene 3'-UTR Clone (see all 5): ELN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELN
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate ELN (see all 28):
		hsa-miR-642a hsa-miR-1226 hsa-miR-181c hsa-miR-1278 hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-515-5p

		SwitchGear 3'UTR luciferase reporter plasmid: ELN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ELN (see all 7) OriGene shRNA RFP: ELN OriGene siRNA: ELN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELN

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ELN

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ELN (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ELN (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): ELN (NM_000501)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELN

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ELN
		Search LifeMap BioReagents cell lines for ELN

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELN

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	9580666
GO:0005515	protein binding	IPI	11805834
GO:0030023	extracellular matrix constituent conferring elasticity	NAS	--
GO:0050840	extracellular matrix binding	IEA	--

ELN for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Eln^tm1Dyl for ELN
     5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Eln):

cardiovascular system

homeostasis/metabolism

mortality/aging

muscle

respiratory system

ELN for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Integrin Pathway

Integrin Pathway	1.00	UPA-UPAR Pathway	0.51
FAK1 Signaling	0.67	Transendothelial Migration of Leukocytes	0.38
GnRH Signaling	0.56	Inhibition of Angiogenesis by TSP1	0.37

Rho Family GTPases

Rho Family GTPases	1.00	MAPK Signaling	0.51
ERK Signaling	0.61	ILK Signaling	0.45
Molecular Mechanisms of Cancer	0.51

Cell adhesion_Cell-matrix glycoconjugates

Cell adhesion_Cell-matrix glycoconjugates

1.00

Cell adhesion Cell-matrix glycoconjugates

0.97

Elastic fibre formation

Elastic fibre formation

1.00

Molecules associated with elastic fibres

0.84

PTEN Pathway

PTEN Pathway

1.00

Phospholipase-C Pathway

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for ELN

	Cell adhesion Cell-matrix glycoconjugates
	Selected targets of GCR-alpha
	Metalloproteases in connective tissue degradation

5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ELN (see all 13)

	MAPK Signaling
	Molecular Mechanisms of Cancer
	PTEN Pathway
	Transendothelial Migration of Leukocytes
	UPA-UPAR Pathway

1 GeneGo (Thomson Reuters) Pathway for ELN

Cell adhesion Cell-matrix glycoconjugates

5/6 Reactome Pathways for ELN (see all 6)

	Molecules associated with elastic fibres
	Extracellular matrix organization
	Elastic fibre formation
	Tropoelastin associates with microfibrils
	Elastin cross-linking by lysyl oxidase

1 Kegg Pathway (Kegg details for ELN):

Protein digestion and absorption

ELN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ELN

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/30 Interacting proteins for ELN (P15502^{1, 2, 3} ENSP00000252034⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LOX	P28300¹^,³, ENSP00000231004⁴	EBI-1222108,EBI-3893481 I2D: score=2 STRING: ENSP00000231004
FBLN2	P98095³, ENSP00000384169⁴	I2D: score=3 STRING: ENSP00000384169
FCN1	O00602³, ENSP00000360871⁴	I2D: score=3 STRING: ENSP00000360871
LGALS3	P17931³, ENSP00000254301⁴	I2D: score=3 STRING: ENSP00000254301
ASS1	P00966³, ENSP00000253004⁴	I2D: score=2 STRING: ENSP00000253004

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001974	blood vessel remodeling	IEA	--
GO:0007519	skeletal muscle tissue development	IEA	--
GO:0007585	respiratory gaseous exchange	TAS	9873040
GO:0008015	blood circulation	TAS	8096434
GO:0008283	cell proliferation	TAS	9607766

ELN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ELN for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ELN

3 HMDB Compounds for ELN About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Manganese	manganese	7439-96-5	--

1 DrugBank Compound for ELN About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Rofecoxib	MK 966 (see all 2)	162011-90-7	target	other/unknown	17620346 17164475 16679386

10/124 Novoseek chemical compound relationships for ELN gene (see all 124) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
desmosine	94.5	161	9142143 (4), 15739366 (4), 18978133 (3), 11415939 (2) (see all 89)
isodesmosine	93.2	74	9142143 (4), 9493466 (3), 11415939 (2), 8592422 (2) (see all 42)
vgvapg	87.8	20	14614988 (2), 7875935 (1), 8412988 (1), 11723829 (1) (see all 15)
poly(vpgvg)	83.2	3	8748705 (1), 10867636 (1), 1420992 (1)
vpgvg	81.6	6	7628608 (1), 8882470 (1), 16124870 (1), 12785105 (1) (see all 5)
orcein	76.7	10	2287592 (1), 11211162 (1), 1681662 (1), 17785059 (1) (see all 10)
pgaipg	73.5	5	15752567 (2), 11723829 (1), 8396888 (1)
beta-aminopropionitrile	71.3	9	7505730 (2), 10757115 (1), 12935818 (1), 17459412 (1) (see all 6)
alpha-aminoadipic semialdehyde	69.9	11	17620346 (3), 10992159 (1), 11278561 (1), 7899140 (1) (see all 6)
vapg	67.8	6	8412988 (3), 1495142 (2)

Search CenterWatch for drugs/clinical trials and news about ELN

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ELN gene (5 alternative transcripts):

NM_000501.2 NM_001081752.1 NM_001081753.1 NM_001081754.1 NM_001081755.1

Unigene Cluster for ELN:

Elastin

Hs.647061 [show with all ESTs]

Unigene Representative Sequence: NM_000501

18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):

ENST00000445912(uc003tzm.1) ENST00000252034(uc003tzn.3 uc003tzy.3 uc003tzz.3 uc003tzo.3 uc003tzp.3 uc003tzq.3 uc003tzr.3 uc003tzs.3 uc003tzt.3 uc003tzu.3 uc003tzv.3 uc011kfe.2 uc003tzx.3 uc011kff.2)

ENST00000431562 ENST00000320492 ENST00000438906 ENST00000494160 ENST00000492003

ENST00000468517 ENST00000438880 ENST00000414324 ENST00000380562 ENST00000480728

ENST00000380575 ENST00000380584 ENST00000458204 ENST00000357036 ENST00000462506

ENST00000479432

miRNA Products:		OriGene 3'-UTR Clone (see all 5): ELN Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ELN
		8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate ELN (see all 28):
		hsa-miR-642a hsa-miR-1226 hsa-miR-181c hsa-miR-1278 hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-515-5p

		SwitchGear 3'UTR luciferase reporter plasmid: ELN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ELN (see all 7) OriGene shRNA RFP: ELN OriGene siRNA: ELN
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELN

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ELN (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ELN (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): ELN (NM_000501)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELN
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELN

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ELN Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ELN
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ELN
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ELN

Additional cDNA sequence:

AF086171.1 AK075494.1 AK075554.1 AK092232.1 AK094138.1 AK095990.1 AK122731.1 AK125511.1

AK129788.1 AK130894.1 AK225659.1 AK304845.1 BC035570.1 BC050379.1 BC065566.1 BX537939.1

BX538199.1 M24782.1 M26867.1 M36860.1 X52896.1

24/39 DOTS entries (see all 39):

DT.449623 DT.100782271 DT.40213715 DT.121073198 DT.100774855 DT.99973684 DT.99950630 DT.101984333

DT.101984332 DT.121073105 DT.121073169 DT.121073159 DT.95236869 DT.100026473 DT.100782276 DT.121073201

DT.95276271 DT.102828696 DT.121073086 DT.70100904 DT.100026471 DT.121073106 DT.121073118 DT.121073161

24/249 AceView cDNA sequences (see all 249):

AA864487 CR590609 AF086171 T28744 AU119187 AA346348 M24782 AW068444

AA330624 BQ329561 CB156510 AI364483 AW057740 AI279981 R80383 BC050379

NM_000501 X52896 AI242745 BC035570 BQ707955 BU683114 BP372660 AI005105

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for ELN (see all 16) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	·	8c	^	9	^	10	^	11	^	12a	·	12b	^	13a	·	13b	^	14	^	15	^	16a	·
SP1:													-		-												-				-		-						-				-
SP2:													-		-																-		-						-				-
SP3:													-		-												-				-		-						-				-
SP4:													-						-								-				-		-						-		-		-				-
SP5:													-		-												-				-		-				-		-		-		-

ExUns:	16b	^	17	^	18	^	19	^	20a	·	20b	·	20c	·	20d	^	21	^	22a	·	22b	·	22c	·	22d	·	22e	^	23a	·	23b	^	24	^	25	^	26a	·	26b	^	27	^	28	^	29a	·	29b	^	30	^	31	^
SP1:							-		-																				-
SP2:							-		-																				-				-
SP3:							-		-																				-				-
SP4:							-		-																-		-		-				-
SP5:							-		-																-		-		-				-

ExUns:	32	^	33	^	34	^	35
SP1:
SP2:
SP3:			-
SP4:
SP5:			-

ECgene alternative splicing isoforms for ELN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ELN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGTACTGTA

About this image

ELN expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Epicardium

Axial Tendons and Ligamnets

Tenocytes

Tendons & Ligaments

Limb Tendons and Ligamnets

Tenocytes

Tendons & Ligaments

Heart

Atrioventricular Node

Atrioventricular Node Cells

Myocardium

Bone

Endochondral Facial Bones

Bone

Bone

Heart

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12)

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Cardiomyocyte-like cells (Spontaneous differen...)

HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced MEL2 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

Bone, Cartilage

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See ELN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ELN

SOURCE GeneReport for Unigene cluster: Hs.647061

UniProtKB/Swiss-Prot: ELN_HUMAN, P15502

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

SABiosciences Expression via Pathway-Focused PCR Arrays including ELN:

Atherosclerosis in human mouse rat

PPAR Targets in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ELN Browse OriGene validated miRNA SYBR primer pairs
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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ELN gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ELN¹	elastin (supravalvular aortic stenosis, Williams-Beuren more	66.61(n) 70.96(a)		396441 XM_003642386.1 XP_003642434.1
lizard (Anolis carolinensis)	Reptilia	ELN⁶	--	56(a)	1 ↔ 1	GL344042.1(2008-23302)
zebrafish (Danio rerio)	Actinopterygii	elna⁶	elastin a	4(a)	1 ↔ 1	15(163462-192824)
fruit fly (Drosophila melanogaster)	Insecta	CG3588⁶ CG4000⁶	--	4(a) 13(a)	1 ↔ 1 possible ortholog	X(2813803-2818459) 3R(16501946-16503074)
worm (Caenorhabditis elegans)	Secernentea	Y38E10A.17⁶ qua-1⁶	QUAhog (hedgehog related) family member (qua-1)	5(a) 4(a)	1 ↔ 1 possible ortholog	II(12632520-12634721) II(8198752-8203954)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G29030⁶ AT1G11850⁶ (see all 4)	uncharacterized protein (see all 4)	21(a) 19(a) (see all 4)	1 ↔ many 1 ↔ many (see all 4)	4(14307249-14307973) 1(3999199-3999876)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	retrotransposon protein, putative, unclassified retrotransposon protein, putative, unclassified, e... (see all 3)	4(a) 14(a) (see all 3)	1 ↔ 1 possible ortholog (see all 3)	1(25475700-25481929) 8(21588289-21589326)

ENSEMBL Gene Tree for ELN (if available)
TreeFam Gene Tree for ELN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55678505^1,2	C,F	--	72774012(+)	`TGACCAATGCCTGC ATTTGACC/-TTTCC`	5	--	us2k¹		2	NS	92
rs78718273^1,2		--	72774308(+)	`GGGTCC/TCCGTC`	5	--	us2k¹		1	NA	120
rs55884051^1,2	C,F,	--	72774397(+)	`TGGCCA/GCCAGC`	5	--	us2k¹		3	NS WA	210
rs55793530^1,2	C,F,	--	72774428(+)	`GGGGCC/GGGGAG`	5	--	us2k¹		2	NS	94
rs55724353^1,2	C,	--	72774442(+)	`AGCAGT/CCGAGA`	5	--	us2k¹		2	NS	94
rs56020114^1,2	C,F,	--	72774540(+)	`GTCTGC/TGGGGG`	5	--	us2k¹		9	NS NA WA EA	458
rs73705335^1,2	C,	--	72775369(+)	`TCAAGG/AAAAAA`	5	--	us2k¹		1	WA	2
rs55810945^1,2	C,F,	--	72775953(+)	`TGCCCG/AGGTGC`	5	--	int¹		3	NS WA	208
rs12113080^1,2	C	--	72776040(+)	`CACACC/TTGTGG`	5	--	int¹		2	NA	4
rs56359340^1,2	C,F,	--	72776362(+)	`ATGCCC/TGGCTG`	5	--	int¹		3	NS WA	208

HapMap Linkage Disequilibrium report for ELN (73442119 - 73484237 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ELN: --
Human Gene Mutation Database (HGMD): ELN

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ELN

DNA2.0 Custom Variant and Variant Library Synthesis for ELN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ELN for disorders           About GeneDecksing

OMIM gene information: 130160
OMIM disorders: 185500  123700
UniProtKB/Swiss-Prot: ELN_HUMAN, P15502

Defects in ELN are the cause of cutis laxa, autosomal dominant, type 1 (ADCL1) [MIM:123700]. A connective

tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a

premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable

clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary

artery stenosis, aortic aneurysm, bronchiectasis, and emphysema

Defects in ELN are the cause of supravalvular aortic stenosis (SVAS) [MIM:185500]. SVAS is a congenital

narrowing of the ascending aorta which can occur sporadically, as an autosomal dominant condition, or as one component

of Williams-Beuren syndrome

Note=ELN is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous

deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between

highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of ELN may be the cause of

certain cardiovascular and musculo-skeletal abnormalities observed in the disease

20/164 diseases for ELN (see all 164): About MalaCards

supravalvular aortic stenosis cutis laxa elastosis perforans serpiginosa buschke-ollendorff syndrome

cutis laxa, ad open-angle glaucoma ehlers-danlos syndrome primary open angle glaucoma

aortic aneurysm alpha 1-antitrypsin deficiency dissecting aortic aneurysm angioid streaks

ruptured abdominal aortic aneurysm periventricular nodular heterotopia occipital horn syndrome low tension glaucoma

sorsby fundus dystrophy abdominal aortic aneurysm mitral valve prolapse pyloric stenosis

5 diseases from the University of Copenhagen DISEASES database for ELN:

Aortic valve stenosis Williams-Beuren syndrome Cutis laxa Costello syndrome

Vascular disease

10/93 Novoseek disease relationships for ELN gene (see all 93) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
aortic stenosis supravalvular	86.9	39	9215671 (2), 9138154 (2), 11003759 (2), 10542079 (2) (see all 26)
williams syndrome	85.3	57	8544187 (3), 9004128 (2), 12784297 (2), 16784071 (2) (see all 42)
solar elastosis	83.3	19	8040608 (2), 11928814 (1), 1688899 (1), 7783424 (1) (see all 13)
cutis laxa	81.9	31	8575269 (2), 9873040 (2), 7884000 (2), 9580666 (2) (see all 25)
aortic aneurysm abdominal	75.5	49	1495142 (6), 2064915 (2), 7697623 (2), 7934021 (2) (see all 35)
pseudoxanthoma elasticum	74	13	8149653 (2), 1936214 (2), 1867300 (1), 8692167 (1) (see all 10)
pulmonary emphysema	73.8	18	18621984 (3), 8466136 (2), 2200280 (1), 9512892 (1) (see all 14)
buschke-ollendorff syndrome	70.9	7	1629625 (2), 8575269 (1), 10393461 (1), 15096150 (1) (see all 5)
collagen fibril	70	27	9784809 (2), 15382663 (2), 1662055 (1), 7825728 (1) (see all 21)
elastic skin	66.6	1	8575260 (1)

GeneTests: ELN

Williams Syndrome

Genetic Association Database (GAD): ELN
Human Genome Epidemiology (HuGE) Navigator: ELN (34 documents)

Export disorders for ELN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ELN gene, integrated from 9 sources (see all 1415):
(articles sorted by number of sources associating them with ELN)

Utopia: connect your pdf to the dynamic
world of online information

The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. (PubMed id 8096434)^{1, 3, 4} Curran M.E....Keating M.T. (1993)
Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. (PubMed id 15698546)^{1, 4, 9} Massart F....Brandi M.L. (2004)
Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. (PubMed id 12690215)^{1, 4, 9} Hofer A....Auburger G. (2003)
Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). (PubMed id 9873040)^{1, 2, 9} Zhang M.-C.... Davidson J.M. (1999)
LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. (PubMed id 8689688)^{1, 2, 9} Frangiskakis J.M....Keating M.T. (1996)
Characterization of peptides resulting from digestion of human skin elastin with elastase. (PubMed id 16161116)^{1, 2, 9} Getie M.... Neubert R.H.H. (2005)
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. (PubMed id 10942104)^{1, 2, 9} Urban Z.... Boyd C.D. (2000)
Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. (PubMed id 9215670)^{1, 2, 9} Li D.Y.... Keating M.T. (1997)
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients. (PubMed id 8812460)^{1, 2, 9} Osborne L.R....Tsui L.C. (1996)
Mass spectrometric characterization of human skin elastin peptides produced by proteolytic digestion with pepsin and thermitase. (PubMed id 16078697)^{1, 2} Schmelzer C.E.H.... Neubert R.H.H. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2006	HGNC: 3327	AceView: ELN	Ensembl:ENSG00000049540	euGenes: HUgn2006
ECgene: ELN	Kegg: 2006	H-InvDB: ELN

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ELN	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ELN	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELN
Wikipedia	http://en.wikipedia.org/wiki/Elastin

Intellectual Property for ELN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ELN gene:
Search GeneIP for patents involving ELN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Collagen Diseases
Pulmonary Emphysema
Scars Hypertrophic
Endometriosis
Aortic Aneurysm Thoracic
Cutis Laxa
Cystic Fibrosis
Aneurysm Dissecting
heritable connective tissue disorder
Lichen Sclerosus
Lymphedema
Solar elastosis
Skin Diseases
Rupture Spontaneous
Atherosclerosis
Adenocarcinoma
Pseudoexfoliation glaucoma
Obstruction
Aortic Stenosis Supravalvular
Ehlers-Danlos Syndrome
Hypertension Pulmonary
Aneurysm
Coronary Atherosclerosis
Pathological Processes
ELASTOSIS PERFORANS SERPIGINOSA
Stenoses
Bronchoalveolar Lavage Fluid
Hypercalcemia
Drusen Optic Disc
Inflammation
SYSTOLIC HYPERTENSION
Williams Syndrome
Glaucoma Open-Angle
THROMBOSIS MURAL
Pseudoxanthoma Elasticum
Hyperhomocysteinemia
COLLAGENOSIS
Hypertrophy
Pulmonary Disease Chronic Obstructive
BICUSPID AORTIC VALVE
Aortic Stenosis
Mental Retardation
Cardiovascular Diseases
Autoimmunity
Collagen fibril
Marfan Syndrome
EDS IV
Developmental Disabilities
Telangiectasia
Prolapse
Pulmonary Fibrosis
glaucoma
MENKES DISEASE
Carcinoma Scirrhous
Hyperplasia
atherosclerotic plaque
Optic Neuropathy
ARTERIAL VESSELS
Dissecting aortic aneurysm
AORTIC DISSECTION
DIVERTICULAR DISEASE
Intracranial Aneurysm
Skin Wrinkling
Contracture
DISSECTION AORTIC ACUTE
HOMOCYSTEINEMIA
Primary open angle glaucoma
Calcification
Arteriosclerosis
Connective Tissue Diseases
BUSCHKE-OLLENDORFF SYNDROME
Fenestration
small cell lung cancer
Carotid Artery Plaque
HEART FAILURE
Aortic Aneurysm Abdominal
elastic skin
Scar
Keloid
Progeria
Lung diseases
Histopathology
Aortic Diseases
Atrophy
Osteopoikilosis
Wegeners Granulomatosis
Vascular Diseases
Respiratory Distress Syndrome Adult
HERNIA DIAPHRAGMATIC CONGENITAL
Cerebral Aneurysm
genetic disorder
Pseudoexfoliation Syndrome
valvular insufficiency

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ELN Gene

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