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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
  • ADCL1 3
  • 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. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

GeneCards Summary for ELN Gene

ELN (Elastin) is a Protein Coding gene. Diseases associated with ELN include Supravalvar Aortic Stenosis and Cutis Laxa, Autosomal Dominant. Among its related pathways are Elastic fibre formation and Cell adhesion_Cell-matrix glycoconjugates. 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

Additional gene information for ELN Gene

No data available for CIViC summary , 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
GH07H073849 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.4 -176.8 -176817 3.9 PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK SP3 JUNB SMARCB1 METTL27 BUD23 ELN DNAJC30 VPS37D STAG3L3 MIR590 POM121B BCL7B GC07M073847
GH07H074159 1 ENCODE 21.4 +132.4 132442 0.9 PKNOX1 ATF1 ZNF766 GATA2 ATF7 CAVIN1 REST ZNF592 MEF2D SMARCA4 ELN MIR590 GTF2IRD2 GTF2IRD2B GTF2IRD2P1 BAZ1B METTL27 POM121B ENSG00000232415 GC07P074167
GH07H074096 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +71.6 71629 5.6 PKNOX1 ATF1 JUN RELA CTBP1 POLR2A POLR3A EED FOS ATF7 LIMK1 ENSG00000232415 ELN GC07P074132
GH07H074061 1.4 Ensembl ENCODE dbSUPER 12.6 +34.5 34464 1.4 HDGF FOXA2 ATF1 GLI4 BRCA1 GLIS2 ZNF143 ATF7 REST RFX3 ELN ENSG00000232415
GH07H074067 1.4 Ensembl ENCODE dbSUPER 12.3 +40.1 40065 0.7 ATF1 RB1 ARID4B SIN3A RAD21 RFX5 ZNF121 ZNF143 ZNF391 ATF7 LIMK1 ELN CLIP2 ENSG00000232415
- 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
ENSR00000213562 328 201 ZSCAN4 RCOR1

Genomic Locations for ELN Gene

Genomic Locations for ELN Gene
42,136 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KTS6
    • O15336
    • O15337
    • Q14233
    • Q14234
    • Q14235
    • Q14238
    • Q6P0L4
    • Q6ZWJ6
    • Q75MU5
    • Q7Z316
    • Q7Z3F5
    • Q9UMF5

    Protein attributes for ELN Gene

    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).
    • 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

No data available for DME Specific Peptides for ELN Gene

Domains & Families for ELN Gene

Gene Families for ELN Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for ELN Gene

Graphical View of Domain Structure for InterPro Entry



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

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).

Phenotypes From GWAS Catalog for ELN Gene

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

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

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
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005739 mitochondrion IEA --
GO:0031012 extracellular matrix IDA 27559042
GO:0071953 elastic fiber IDA,IEA 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 BioSystems pathway 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Rofecoxib Investigational, Withdrawn Pharma Inhibition, Inhibitor, Target, other/unknown COX-2 inhibitor 31
PRT-201 Pharma 0
calcium Nutra 0
Magnesium Nutra 0

(77) 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

Representative Sequences:

Clone 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: - - - - - - - - -
SP7: - -
SP11: - -
SP12: -

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: - - - - - - - - - - - - - - -
SP8: - - -
SP10: - - -
SP14: -

ExUns: 32 ^ 33 ^ 34 ^ 35
SP3: -
SP5: -
SP6: -

Relevant External Links for ELN Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ELN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for ELN Gene:


mRNA Expression by UniProt/SwissProt for ELN Gene:

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.

Evidence on tissue expression from TISSUES for ELN Gene

  • Nervous system(4.9)
  • Skin(4.6)
  • Eye(4.3)
  • Lung(4.2)
  • Stomach(4.2)
  • Muscle(3.5)
  • Heart(3.3)
  • Blood(2.3)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ELN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
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
(Pan troglodytes)
Mammalia ELN 34
  • 95 (a)
(Bos Taurus)
Mammalia ELN 34
  • 62 (a)
(Canis familiaris)
Mammalia ELN 34
  • 62 (a)
(Mus musculus)
Mammalia Eln 34
  • 59 (a)
(Monodelphis domestica)
Mammalia ELN 34
  • 51 (a)
(Ornithorhynchus anatinus)
Mammalia ELN 34
  • 46 (a)
(Gallus gallus)
Aves ELN 34
  • 45 (a)
(Anolis carolinensis)
Reptilia ELN 34
  • 52 (a)
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

Gene Tree for ELN (if available)
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(A/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

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

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

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

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


  • 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)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 ML (The Journal of steroid biochemistry and molecular biology 2004) 3 22 45 60
  2. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. (PMID: 8096434) Curran ME … Keating MT (Cell 1993) 2 3 45 60
  3. Comparison between human fetal and adult skin. (PMID: 19701759) Coolen NA … Ulrich MM (Archives of dermatological research 2010) 3 22 60
  4. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. (PMID: 19844261) Micale L … Merla G (European journal of human genetics : EJHG 2010) 3 22 60
  5. Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma. (PMID: 20051886) Fan BJ … Wiggs JL (Journal of glaucoma 2010) 3 45 60

Products for ELN Gene

Sources for ELN Gene

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