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Gene : ELN Homo sapiens

Name  ? elastin Cytological Location  7q11.23
Brief Description  elastin
Description  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]
  • synonyms:
  • WS,
  • Williams-Beuren syndrome,
  • ELN,
  • supravalvular aortic stenosis,
  • WS,
  • WBS,
  • ADCL1,
  • HGNC:3327,
  • SVAS,
  • uc003tzn.5,
  • OTTHUMG00000150229,
  • tropoelastin,
  • SVAS,
  • NM_000501,
  • WBS
  • identifiers:
  • 2006,
  • ENSG00000049540,
  • ELN

Genome feature

Region: gene ? Length: 42136  
Location: 7:74027772-74069907 Cyto location: 7q11.23


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

70 SN Ps

5 Cross References

20 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results