ELN Gene - Elastin
Essential extracellular matrix protein for vascular, pulmonary, and skin elasticity
Gene Information Card
| Symbol | ELN |
|---|---|
| Full Name | Elastin |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 2006 ncbi.nlm.nih.gov/gene/2006 |
| Ensembl ID | ENSG00000049540 |
| UniProt ID | P15502 |
| OMIM ID | 130160 |
| HGNC ID | 3327 |
| Aliases | SVAS, WBS, FLJ38690, FLJ43524 |
Description
The ELN gene encodes elastin, a key extracellular matrix protein that provides elasticity and resilience to tissues such as arteries, lungs, skin, and ligaments. Elastin is synthesized as a soluble precursor (tropoelastin) that is cross-linked into insoluble fibers. Mutations in ELN cause supravalvular aortic stenosis (SVAS) and contribute to Williams-Beuren syndrome (WBS) due to haploinsufficiency. Autosomal dominant cutis laxa is also associated with ELN mutations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Supravalvular aortic stenosis (SVAS) | Haploinsufficiency of elastin leads to narrowing of the ascending aorta | OMIM #185500 |
| Williams-Beuren syndrome (WBS) | Contiguous gene deletion including ELN causes elastin deficiency and vascular stenosis | OMIM #194050 |
| Cutis laxa, autosomal dominant 1 | Missense or frameshift mutations disrupt elastin fiber assembly | OMIM #123700 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 78.2 | High |
| Artery | 65.4 | High |
| Skin | 42.1 | Medium |
| Heart | 38.9 | Medium |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 85.0 | Primary cell type for elastin synthesis |
| Lung fibroblasts | 72.3 | High expression |
| Skin fibroblasts | 45.6 | Moderate expression |
| HUVEC | 12.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132G>A (p.Gly378Ser) | Missense | Rare | Dominant negative effect on fiber assembly |
| c.1840delC (p.Leu614Trpfs*12) | Frameshift | Rare | Loss of function, haploinsufficiency |
| Whole gene deletion | Copy number loss | Common in WBS | Haploinsufficiency, severe vascular phenotype |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to haploinsufficiency cause SVAS and WBS.
Gain of Function (GOF)
Not reported for ELN.
Dominant Negative (DN)
Missense mutations (e.g., p.Gly378Ser) disrupt elastin polymerization and cause cutis laxa.
View complete mutation data：
Gene Ontology (GO)
| • Extracellular matrix structural constituent (GO:0005201) | • Elastic fiber assembly (GO:0048251) |
| • Cell adhesion (GO:0007155) | • Response to mechanical stimulus (GO:0009612) |
Pathways
• Elastic fibre formation (Reactome: R-HSA-1566948)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Elastin (UniProt P15502) is a 786-amino-acid protein rich in hydrophobic domains and lysine residues. It is secreted as tropoelastin and cross-linked by lysyl oxidases to form insoluble elastic fibers. These fibers provide recoil to tissues subjected to repeated stretch. Mutations impair fiber integrity, leading to vascular stenosis or skin laxity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RELN Knockout HEK293 Cell Line | EDJ-KQ863 | Human | 5649 | Details Get a Quote |
| ELN Knockout HEK293 Cell Line | EDJ-KQ3563 | Human | 2006 | Details Get a Quote |
| ELN Knockout HeLa Cell Line | EDJ-KQ25430 | Human | 2006 | Details Get a Quote |
| RELN Knockout HeLa Cell Line | EDJ-KQ54231 | Human | 5649 | Details Get a Quote |
| ELN Knockout A-549 Cell Line | EDJ-KQ61630 | Human | 2006 | Details Get a Quote |
| RELN Knockout A-549 Cell Line | EDJ-KQ62723 | Human | 5649 | Details Get a Quote |
| ELN Knockout HCT 116 Cell Line | EDJ-KQ70115 | Human | 2006 | Details Get a Quote |
| RELN Knockout HCT 116 Cell Line | EDJ-KQ71195 | Human | 5649 | Details Get a Quote |
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