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Aliases for ELN Gene

Aliases for ELN Gene

  • Elastin 2 3 3 5
  • Tropoelastin 2 3 4
  • Supravalvular Aortic Stenosis 2
  • Williams-Beuren Syndrome 2
  • SVAS 3
  • WBS 3
  • WS 3

External Ids for ELN Gene

Previous GeneCards Identifiers for ELN Gene

  • GC07P072082
  • GC07P072840
  • GC07P072854
  • GC07P072887
  • GC07P073080
  • GC07P073442
  • GC07P069326

Summaries for ELN Gene

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 Supravalvar Aortic Stenosis and Cutis Laxa, Ad. Among its related pathways are Cell adhesion_Cell-matrix glycoconjugates and Phospholipase-C Pathway. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix constituent conferring elasticity.

UniProtKB/Swiss-Prot for ELN Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ELN Gene

Genomics for ELN Gene

Regulatory Elements for ELN Gene

Enhancers for ELN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F073849 1.6 FANTOM5 Ensembl ENCODE 11.3 -176.8 -176821 3.9 PKNOX1 ARNT SIN3A FEZF1 FOS DEK ZNF263 SP3 JUNB TBX21 WBSCR27 WBSCR22 ELN DNAJC30 VPS37D POM121B MIR590 BCL7B GC07M073847 WBSCR28
GH07F074096 1.4 FANTOM5 Ensembl ENCODE 11.5 +71.6 71629 5.6 PKNOX1 ZNF133 JUN SIN3A RELA POLR3A EED FOS ZSCAN29 CREM LIMK1 ENSG00000232415 ELN GC07P074132
GH07F074061 1.2 Ensembl ENCODE 12.6 +34.5 34464 1.4 HDGF CBX3 ATF1 SIN3A KLF17 GLI4 BRCA1 ZEB1 GLIS2 RCOR1 ELN POM121B GTF2IRD2P1 MIR590 ENSG00000232415
GH07F074005 1.2 Ensembl ENCODE 12.4 -21.2 -21211 1.4 HDGF ATF1 PKNOX1 ZNF263 MCM3 SP5 REST NFIL3 MIER3 MAFF ELN GTF2IRD1 ENSG00000261467
GH07F073868 1.2 Ensembl ENCODE 12 -158.2 -158150 2.0 ELF3 ARID4B DMAP1 THRB ZNF48 RAD21 RARA YY1 THAP11 KLF11 WBSCR27 ELN ABHD11-AS1 GC07M073860 GC07M073911
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ELN on UCSC Golden Path with GeneCards custom track

Promoters for ELN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001892904 1128 2201 SCRT1 HLF REST ZIC2 POLR2A SMARCA4 SCRT2 ZNF600

Genomic Location for ELN Gene

Chromosome:
7
Start:
74,027,772 bp from pter
End:
74,069,907 bp from pter
Size:
42,136 bases
Orientation:
Plus strand

Genomic View for ELN Gene

Genes around ELN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ELN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ELN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ELN Gene

Proteins for ELN Gene

  • Protein details for ELN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15502-ELN_HUMAN
    Recommended name:
    Elastin
    Protein Accession:
    P15502
    Secondary Accessions:
    • B3KTS6
    • O15336
    • O15337
    • Q14233
    • Q14234
    • Q14235
    • Q14238
    • Q6P0L4
    • Q6ZWJ6
    • Q75MU5
    • Q7Z316
    • Q7Z3F5
    • Q9UMF5

    Protein attributes for ELN Gene

    Size:
    786 amino acids
    Molecular mass:
    68469 Da
    Quaternary structure:
    • 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. Interacts with FBLN5 (PubMed:15790312, PubMed:17035250). Interacts with FBN1 (PubMed:15790312). Forms a ternary complex with FBN1 and FBLN2 or FBLN5 (PubMed:17255108). Interacts with MFAP4 in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (By similarity).
    SequenceCaution:
    • Sequence=CAD98065.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ELN Gene

neXtProt entry for ELN Gene

Post-translational modifications for ELN Gene

  • 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.
  • Hydroxylation on proline residues within the sequence motif, GXPG, is most likely 4-hydroxy as this fits the requirement for 4-hydroxylation in vertebrates.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ELN Gene

Domains & Families for ELN Gene

Protein Domains for ELN Gene

Graphical View of Domain Structure for InterPro Entry

P15502

UniProtKB/Swiss-Prot:

ELN_HUMAN :
  • Belongs to the elastin family.
Family:
  • Belongs to the elastin family.
genes like me logo Genes that share domains with ELN: view

No data available for Gene Families for ELN Gene

Function for ELN Gene

Molecular function for ELN Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IEA --
GO:0005515 protein binding IPI 11805834
GO:0050840 extracellular matrix binding IEA --
genes like me logo Genes that share ontologies with ELN: view
genes like me logo Genes that share phenotypes with ELN: view

Human Phenotype Ontology for ELN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ELN Gene

Localization for ELN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ELN Gene

Secreted, extracellular space, extracellular matrix. Note=Extracellular matrix of elastic fibers. {ECO:0000269 PubMed:17035250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ELN gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005739 mitochondrion IEA --
GO:0071953 elastic fiber IEA,IDA 7534784
genes like me logo Genes that share ontologies with ELN: view

Pathways & Interactions for ELN Gene

genes like me logo Genes that share pathways with ELN: view

Pathways by source for ELN Gene

1 KEGG pathway for ELN Gene
1 GeneGo (Thomson Reuters) pathway for ELN Gene

SIGNOR curated interactions for ELN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0009887 animal organ morphogenesis TAS 9580666
genes like me logo Genes that share ontologies with ELN: view

Drugs & Compounds for ELN Gene

(48) Drugs for ELN Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 34
Rofecoxib Investigational, Withdrawn Pharma Inhibition, Inhibitor, Target, other/unknown COX-2 inhibitor 31
PRT-201 Pharma 0
calcium Nutra 0
Magnesium Nutra 0

(81) Additional Compounds for ELN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ELN: view

Transcripts for ELN Gene

Unigene Clusters for ELN Gene

Elastin:
Representative Sequences:

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ELN Gene

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: - - - - - - - - -
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16:

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: - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7:
SP8: - - -
SP9:
SP10: - - -
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16:

ExUns: 32 ^ 33 ^ 34 ^ 35
SP1:
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for ELN Gene

GeneLoc Exon Structure for
ELN
ECgene alternative splicing isoforms for
ELN

Expression for ELN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ELN Gene

mRNA differential expression in normal tissues according to GTEx for ELN Gene

This gene is overexpressed in Artery - Aorta (x14.2), Artery - Coronary (x7.2), and Artery - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for ELN Gene

This gene is overexpressed in Esophagus (18.3), Skin (10.4), Gallbladder (9.6), and Bone marrow mesenchymal stem cell (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ELN Gene



Protein tissue co-expression partners for ELN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ELN Gene:

ELN

SOURCE GeneReport for Unigene cluster for ELN Gene:

Hs.647061

mRNA Expression by UniProt/SwissProt for ELN Gene:

P15502-ELN_HUMAN
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.
genes like me logo Genes that share expression patterns with ELN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ELN Gene

Orthologs for ELN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ELN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ELN 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ELN 35
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELN 35
  • 62 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eln 35
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELN 35
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELN 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELN 35
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELN 35
  • 52 (a)
OneToOne
Species where no ortholog for ELN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ELN Gene

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

Paralogs for ELN Gene

No data available for Paralogs for ELN Gene

Variants for ELN Gene

Sequence variations from dbSNP and Humsavar for ELN Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs137854452 Pathogenic 74,056,680(+) AAGCT(C/T)AGGCA reference, stop-gained
rs137854453 Pathogenic 74,060,184(+) AGCTC(C/G/T)GTGAG intron-variant, reference, missense, stop-gained
rs137854454 Pathogenic 74,043,901(+) GTATA(C/G)CCAGG reference, stop-gained
rs137854455 Pathogenic 74,045,278(+) GAGTT(A/T)AGCCC intron-variant, reference, stop-gained
rs200862792 Pathogenic 74,056,402(+) TTCCC(A/G/T)GAGTC intron-variant, reference, missense, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for ELN Gene

Variant ID Type Subtype PubMed ID
esv3613696 CNV loss 21293372
nsv1075970 CNV deletion 25765185
nsv1119224 CNV duplication 24896259
nsv1126155 CNV deletion 24896259
nsv1146397 CNV deletion 26484159
nsv1146503 CNV duplication 26484159
nsv824162 CNV gain 20364138

Variation tolerance for ELN Gene

Residual Variation Intolerance Score: 68.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ELN Gene

Human Gene Mutation Database (HGMD)
ELN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ELN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ELN Gene

Disorders for ELN Gene

MalaCards: The human disease database

(69) MalaCards diseases for ELN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
supravalvar aortic stenosis
  • supravalvular aortic stenosis
cutis laxa, ad
  • cutis laxa, autosomal dominant, 1
cutis laxa, autosomal dominant
  • adcl
williams-beuren syndrome
  • fanconi schlesinger syndrome
eln-related cutis laxa
- elite association - COSMIC cancer census association via MalaCards
Search ELN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ELN_HUMAN
  • 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. {ECO:0000269 PubMed:9873040}. 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 (PubMed:8812460). {ECO:0000269 PubMed:8812460}.
  • 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. {ECO:0000269 PubMed:10942104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ELN

Genetic Association Database (GAD)
ELN
Human Genome Epidemiology (HuGE) Navigator
ELN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ELN
genes like me logo Genes that share disorders with ELN: view

No data available for Genatlas for ELN Gene

Publications for ELN Gene

  1. Allelic genes involved in artery compliance and susceptibility to sporadic abdominal aortic aneurysm. (PMID: 15698546) Massart F. … Brandi M.L. (J. Steroid Biochem. Mol. Biol. 2004) 3 22 46 64
  2. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. (PMID: 8096434) Curran M.E. … Keating M.T. (Cell 1993) 2 3 46 64
  3. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PMID: 20346360) Roberts K.E. … Fallon M.B. (Gastroenterology 2010) 3 46 64
  4. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R. … Menon R. (Am. J. Obstet. Gynecol. 2010) 3 46 64
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for ELN Gene

Sources for ELN Gene

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