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ELN Gene

protein-coding   GIFtS: 64
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 eln-related cutis laxa, and wrinkles. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for ELN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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
  • Modification sites at neXtProt

  • See ELN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ELN 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 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

    ELN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ELN
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ELN
    OriGene Custom Antibody 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

    ELN Assay Products:

    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)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

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


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Eln):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle  respiratory system 
     skeleton 

    ELN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Elntm1Dyl for ELN

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ELN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
        
    Block miRNA regulation of human, mouse, rat ELN using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for ELN
    Predesigned siRNA for gene silencing in human, mouse, rat ELN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ELN

    Clone
    Products:
         
    OriGene clones in human, mouse for ELN (see all 24)
    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

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ELN
    Browse ESI BIO Cell Lines and PureStem Progenitors for ELN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ELN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ELN_HUMAN, P15502: Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic
    fibers
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    mitochondrion2
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005739mitochondrion IEA--
    GO:0071953elastic fiber IDA10424889

    ELN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ELN About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    2ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    3Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    4Elastic fibre formation
    Elastic fibre formation0.73
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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
    Elastic fibre formation
    Degradation of the extracellular matrix


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


    ELN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ELN: 
              Atherosclerosis in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ELN

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

    Selected Interacting proteins for ELN (P155021, 2, 3 ENSP000002520344) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    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): Selected biological process terms (see all 10):    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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)



    ELN for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Selected 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
    Products:
         
    Block miRNA regulation of human, mouse, rat ELN using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for ELN
    Predesigned siRNA for gene silencing in human, mouse, rat ELN
    Clone
    Products:
         
    OriGene clones in human, mouse for ELN (see all 24)
    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)
    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 qSTAR qPCR primer pairs in human, mouse for ELN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ELN
      QuantiTect SYBR Green Assays in human, mouse, rat ELN
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 249):

    X52896 CR590609 AW057740 T28716 BM725782 CR607863 BC050379 BQ707955 
    AI204484 T28744 NM_000501 AI005105 AK125511 BQ000849 BU683114 AA864487 
    AI868232 AI242745 AU119187 BC035570 AA346348 AA330622 AI364483 BQ066924 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ELN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 17) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 15 entries
             Endochondral Facial Bones
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 2 entries
             Tenocytes Limb Tendons and Ligaments
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Subepicardial Cells Epicardium
             Dorsal Aorta
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Smooth muscle-like cells
    ELN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ELN Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ELN: 
              Atherosclerosis in human mouse rat
              PPAR Targets in human mouse rat

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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

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    This gene was present in the common ancestor of chordates.

    Orthologs for ELN gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Eln5 elastin   --   5 (74.76 cM) 134703781 
    chicken
    (Gallus gallus)
    Aves ELN6
    elastin
    45(a)
    1 ↔ 1
    19(785549-804855) ENSGALG00000001071
    lizard
    (Anolis carolinensis)
    Reptilia ELN6
    elastin
    52(a)
    1 ↔ 1
    GL344042.1(1833-23302)


    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

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    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ELN (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • Selected diseases for ELN (see all 160):    
    About MalaCards
    eln-related cutis laxa    wrinkles    elastosis perforans serpiginosa    williams syndrome
    pulmonary artery hypoplasia    dissecting aortic aneurysm    cutis laxa, ad    acquired cutis laxa
    aortic disease    aneurysm disease    hepatoportal sclerosis    supravalvular aortic stenosis
    lichen sclerosus    fbln5-related cutis laxa    osteopoikilosis    cerebral aneurysms
    buschke ollendorff syndrome    intracranial aneurysm    prolidase deficiency    cutis laxa

    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

    Selected 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)
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    PubMed articles for ELN gene, integrated from 10 sources (see all 1430):
    (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. (Cell 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. (Hum. Mol. Genet. 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. (J. Steroid Biochem. Mol. Biol. 2004)
    4. Elastin polymorphism haplotype and intracranial aneurysms are not associated in Central Europe. (PubMed id 12690215)1, 4, 9 Hofer A....Auburger G. ( a journal of cerebral circulation 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. (J. Biol. Chem. 1999)
    6. LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. (PubMed id 8689688)1, 2, 9 Frangiskakis J.M....Keating M.T. (Cell 1996)
    7. Elastin gene study of infants with isolated congenital ductus arteriosus aneurysm. (PubMed id 19593948)1, 4, 9 Jan S.L....Lin S.J. (Acta Cardiol 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. (Am. J. Hypertens. 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. (Hum. Genet. 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. ( a journal of cerebral circulation 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2006 HGNC: 3327 AceView: ELN Ensembl:ENSG00000049540 euGenes: HUgn2006
    ECgene: ELN Kegg: 2006 H-InvDB: ELN

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

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    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/books/NBK1116/?term=ELN[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Elastin

    (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



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