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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ELN Gene

protein-coding   GIFtS: 67
GCID: GC07P073442

Elastin

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
elastin1 2     SVAS2
tropoelastin1 2     WBS2
Supravalvular Aortic Stenosis1     WS2
Williams-Beuren Syndrome1     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 Gene:
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)

GeneCards Summary for ELN Gene: 
ELN (elastin) is a protein-coding gene. Diseases associated with ELN include williams syndrome, and supravalvular aortic stenosis, and among its related super-pathways are FAK1 Signaling and MAPK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.

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) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ELN at MOPED 

Post-translational modifications:

  • UniProtKB: 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 isodesmosine
  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15502

  • ELN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ELN Protein Expression
    REFSEQ proteins (13 alternative transcripts): 
    NP_000492.2  NP_001075221.1  NP_001075222.1  NP_001075223.1  NP_001075224.1  NP_001265841.1  NP_001265842.1  NP_001265843.1  
    NP_001265844.1  NP_001265845.1  NP_001265846.1  NP_001265847.1  NP_001265868.1  

    ENSEMBL proteins: 
     ENSP00000389857   ENSP00000252034   ENSP00000394549   ENSP00000315607   ENSP00000406949  
     ENSP00000389206   ENSP00000392575   ENSP00000369936   ENSP00000369949   ENSP00000369958  
     ENSP00000403162   ENSP00000349540   ENSP00000411092   ENSP00000391129   ENSP00000404138  
     ENSP00000403961   ENSP00000369926   ENSP00000369950   ENSP00000399499   ENSP00000313565  
     ENSP00000412262   ENSP00000351807  
    Reactome Protein details: P15502
    Human Recombinant Protein Products for ELN: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ELN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix NAS--
    GO:0005739mitochondrion IEA--
    GO:0071953elastic fiber IEA--

    ELN for ontologies           About GeneDecksing



    ELN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of ELN
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    OriGene Custom Antibody Services for ELN
    GenScript Custom Superior Antibodies Services for ELN
    Novus Biologicals ELN Antibodies
    Abcam antibodies for ELN
    Cloud-Clone Corp. Antibodies for ELN 
    ThermoFisher Antibodies for ELN
    LSBio Antibodies in human, mouse, rat for ELN 

    Assay Products for ELN: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ELN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ELN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ELN 
    Cloud-Clone Corp. CLIAs for ELN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003979 Tropoelastin

    Graphical View of Domain Structure for InterPro Entry P15502

    ProtoNet protein and cluster: P15502

    2 Blocks protein domains:
    IPB001451 Bacterial transferase hexapeptide repeat
    IPB003979 Tropoelastin signature


    UniProtKB/Swiss-Prot: ELN_HUMAN, P15502
    Similarity: Belongs to the elastin family


    ELN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS9580666
    GO:0005515protein binding IPI11805834
    GO:0030023extracellular matrix constituent conferring elasticity NAS--
    GO:0050840extracellular matrix binding IEA--
         
    ELN for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Elntm1Dyl for ELN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ELN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ELN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ELN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ELN 

    miRNA
    Products:
        
    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 plasmidELN 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ELN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ELN

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of ELN

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for ELN
    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
    Sirion Biotech Customized lentivirus for stable overexpression of ELN 
                         Customized lentivirus expression plasmids for stable overexpression of ELN 

    Cell Line
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    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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ELN About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Elastic fibre formation
    Elastic fibre formation0.84
    Molecules associated with elastic fibres0.84
    4PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56
    5Cell adhesion Cell-matrix glycoconjugates
    Cell adhesion Cell-matrix glycoconjugates0.97

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    3        Reactome Pathways for ELN
        Molecules associated with elastic fibres
    Extracellular matrix organization
    Elastic fibre formation


    1         Kegg Pathway  (Kegg details for ELN):
        Protein digestion and absorption


    ELN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM 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 (P155021, 2, 3 ENSP000002520344) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LOXP283001, 3, ENSP000002310044EBI-1222108,EBI-3893481 I2D: score=2 STRING: ENSP00000231004
    FBLN2P980953, ENSP000003841694I2D: score=3 STRING: ENSP00000384169
    FCN1O006023, ENSP000003608714I2D: score=3 STRING: ENSP00000360871
    LGALS3P179313, ENSP000002543014I2D: score=3 STRING: ENSP00000254301
    ASS1P009663, ENSP000002530044I2D: 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 IDQualified GO termEvidencePubMed IDs
    GO:0001974blood vessel remodeling IEA--
    GO:0007519skeletal muscle tissue development IEA--
    GO:0007585respiratory gaseous exchange TAS9873040
    GO:0008015blood circulation TAS8096434
    GO:0008283cell proliferation TAS9607766

    ELN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    1 DrugBank Compound for ELN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    RofecoxibMK 966 (see all 2)162011-90-7targetother/unknown17620346 17164475 16679386

    10/124 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ELN gene (13 alternative transcripts): 
    NM_000501.3  NM_001081752.2  NM_001081753.2  NM_001081754.2  NM_001081755.2  NM_001278912.1  NM_001278913.1  NM_001278914.1  
    NM_001278915.1  NM_001278916.1  NM_001278917.1  NM_001278918.1  NM_001278939.1  

    Unigene Cluster for ELN:

    Elastin
    Hs.647061  [show with all ESTs]
    Unigene Representative Sequence: NM_000501
    18/33 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    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
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    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
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ELN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ELN
    Sirion Biotech Customized lentivirus for stable overexpression of ELN 
                         Customized lentivirus expression plasmids for stable overexpression of ELN 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ELN
    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 mRNA 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):

    CA440844 CB156510 AW068444 BU683114 D57863 AA327507 BM725782 NM_000501 
    AI279981 BQ707955 BQ000849 AW057740 AW151104 BU581160 AK125511 AI868232 
    AA864487 BX538199 AW130532 AU119187 T28744 BC035570 AI005105 BC065566 

    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)      ELN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTACTGTA
    ELN Expression
    About this image


    ELN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 17 entries
             Endochondral Facial Bones
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Normal Human osteoblasts (NHOST)   
             skeleton/cranium/viscerocranium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 12 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             skeleton/cranium/viscerocranium   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Subepicardial Cells Epicardium
             Dorsal Aorta
             atrial myocardium   
     
     Fibroblast
             Detroit 551
             skin ; fibroblasts   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             optic nerve head astrocytes   

    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: 
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    (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 animals.

    Orthologs for ELN gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eln1 , 5 elastin1, 5 74.15(n)1
    75.54(a)1
      5 (74.76 cM)5
    137171  NM_007925.31  NP_031951.21 
     1347037815 
    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
    Uncharacterized protein
    50(a)
    1 ↔ 1
    GL344042.1(1833-23302)
    zebrafish
    (Danio rerio)
    Actinopterygii elna6
    elnb6
    elastin b
    23(a)
    12(a)
    many → 1
    many → 1
    15(163462-192824)
    21(39488348-39528844)
    fruit fly
    (Drosophila melanogaster)
    Insecta prc6
    pericardin
    8(a)
    1 ↔ 1
    3L(11951972-11959231)
    worm
    (Caenorhabditis elegans)
    Secernentea F13A7.16
    Protein F13A7.1
    8(a)
    1 ↔ 1
    V(16376239-16377925)


    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, 4UniProtKB, 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

    10/1007 SNPs in ELN are shown (see all 1007)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1994696191,2
    C,Funtested176999938(+) TCCCCA/GACGAT 5 -- int11Minor allele frequency- G:0.01EU 1301
    rs1994696201,2
    Cuntested177000899(+) CCACCA/GCACCA 5 -- int10--------
    rs113707811,2
    C--72779827(+) AGGATG/-CGCCA 5 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs339464431,2
    C--72779828(+) GGATC-/GGCCAC 5 -- int10--------
    rs1130176931,2
    C,F--72814961(+) CCACGT/ACCGGC 5 -- int11Minor allele frequency- A:0.50CSA 2
    rs572287751,2
    C--73463400(+) TCCAT-/CCAT  
            
    TTCTC
    5 -- int10--------
    rs1118936911,2
    C--73464935(+) CCATGCATT/-  
            
    CATTC
    5 -- int11Minor allele frequency- -:0.50CSA 2
    rs2017138541,2
    C--73464936(+) CATTC-/ATT   
      C
    /CATT
    TTTCC
    5 -- int10--------
    rs22294271,2
    C--73470642(+) CTTACC/G/TGGGTT 15 R G W mis10--------
    rs1912573251,2
    --76965661(+) CCCCAA/GCATAA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for ELN (73442119 - 73484237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ELN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv888375CNV Loss21882294
    nsv888374CNV Loss21882294
    nsv888373CNV Loss21882294
    nsv824162CNV Gain20364138


    Human Gene Mutation Database (HGMD): ELN
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 130160   
    OMIM disorders: 185500  123700  
    UniProtKB/Swiss-Prot: ELN_HUMAN, P15502
  • Cutis laxa, autosomal dominant, 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Supravalvular aortic stenosis (SVAS) [MIM:185500]: Congenital narrowing of the ascending aorta which can
    occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • 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

  • 20/155 diseases for ELN (see all 155):    About MalaCards
    williams syndrome    supravalvular aortic stenosis    acquired cutis laxa    elastosis perforans serpiginosa
    pulmonary artery hypoplasia    hepatoportal sclerosis    eln-related cutis laxa    dissecting aortic aneurysm
    cutis laxa, ad    abdominal aortic aneurysm    intracranial aneurysm    aneurysm disease
    buschke ollendorff syndrome    lichen sclerosus    cerebral aneurysms    aortic disease
    prolidase deficiency    osteopoikilosis    cutis laxa    hernia

    6 diseases from the University of Copenhagen DISEASES database for ELN:
    Aortic valve stenosis     Williams-Beuren syndrome     Cutis laxa     Costello syndrome
    Vascular disease     Pulmonary valve stenosis

    ELN for disorders           About GeneDecksing

    10/93 Novoseek inferred 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
    GeneReviews: ELN
    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 1423):
    (articles sorted by number of sources associating them with ELN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. (PubMed id 16611674)1, 4, 9 Akagawa H....Inoue I. (2006)
    3. 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)
    4. Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. (PubMed id 12690215)1, 4, 9 Hofer A....Auburger G. (2003)
    5. 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)
    6. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. (PubMed id 8689688)1, 2, 9 Frangiskakis J.M....Keating M.T. (1996)
    7. Elastin gene study of infants with isolated congenita l ductus arteriosus aneurysm. (PubMed id 19593948)1, 4, 9 Jan S.L....Lin S.J. (2009)
    8. A study on polymorphisms of elastin gene in Chinese Han patients with isolated systolic hypertension. (PubMed id 19282817)1, 4, 9 Deng L....Xu D.L. (2009)
    9. Systematic screening of lysyl oxidase-like (LOXL) family genes demonstrates that LOXL2 is a susceptibility gene to intracranial aneurysms. (PubMed id 17287949)1, 4, 9 Akagawa H....Inoue I. (2007)
    10. Association analysis of common variants of ELN, NOS2A, APOE and ACE2 to intracranial aneurysm. (PubMed id 16574921)1, 4, 9 Mineharu Y....Koizumi A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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
    NameDescription
    PharmGKB entry for ELN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ELN Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ELN
    Wikipedia http://en.wikipedia.org/wiki/Elastin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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