Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ELN Gene

Aliases for ELN Gene

  • Elastin 2 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 Degradation of the extracellular matrix and ERK Signaling. 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

Promoters for ELN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ELN on UCSC Golden Path with GeneCards custom track

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.
    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

Proteomics data for ELN Gene at MOPED

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:0005515 protein binding IEA,IPI 11805834
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

Inhibitory RNA Products

In Situ Assay 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
Jensen Localization Image for ELN Gene COMPARTMENTS Subcellular localization image for ELN gene
Compartment Confidence
extracellular 4
cytoskeleton 2
cytosol 2
lysosome 2
nucleus 2
plasma membrane 2
vacuole 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ELN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
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

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:0007568 aging IEA --
GO:0008015 blood circulation TAS 8096434
GO:0008283 cell proliferation TAS 9607766
GO:0009887 organ morphogenesis TAS 9580666
GO:0022617 extracellular matrix disassembly TAS --
genes like me logo Genes that share ontologies with ELN: view

Drugs & Compounds for ELN Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rofecoxib Investigational, Withdrawn Pharma Inhibition, Inhibitor, Target, other/unknown COX-2 inhibitor 31
PRT-201 Pharma 0
Manganese Pharma 32
calcium Nutra 0
Magnesium Nutra 0

(85) 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:

Inhibitory RNA 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 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



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

Protein tissue co-expression partners for ELN Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ELN 36
  • 62 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ELN 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ELN 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eln 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ELN 36
  • 46 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ELN 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves ELN 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ELN 36
  • 52 (a)
OneToOne
Species with no ortholog for ELN:
  • 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
rs2071307 - 74,056,384(+) TCCCT(A/G)GTGTC intron-variant, reference, missense
rs17855988 - 74,060,495(+) GCTTC(C/G)GGGCA reference, missense
VAR_072395 -
rs8326 -- 74,069,359(+) CCATC(C/G)GTCCG utr-variant-3-prime
rs810554 -- 74,064,423(-) tatat(A/T)ttttt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv888373 CNV Loss 21882294
nsv888374 CNV Loss 21882294
nsv888375 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
ELN
Human Gene Mutation Database (HGMD)
ELN

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

Disorders for ELN Gene

MalaCards: The human disease database

(63) 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
williams-beuren syndrome
  • fanconi schlesinger syndrome
cutis laxa, autosomal dominant
  • adcl
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. 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 48 67
  2. Comparison between human fetal and adult skin. (PMID: 19701759) Coolen N.A. … Ulrich M.M. (Arch. Dermatol. Res. 2010) 3 23
  3. 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. (Eur. J. Hum. Genet. 2010) 3 23
  4. In vitro degradation of human tropoelastin by MMP-12 and the generation of matrikines from domain 24. (PMID: 19144321) Taddese S. … Schmelzer C.E. (Matrix Biol. 2009) 3 23
  5. DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner. (PMID: 19167375) Nonaka R. … Seyama Y. (Clin. Biochem. 2009) 3 23

Products for ELN Gene

Sources for ELN Gene

Back to Top

Content