Gene table of ELN : elastin

Gene-disease associations table

Disease IDDisease nameSource of annotation with ELNOMIM linkNumber of associated genesgenes
123700CUTIS LAXA, AUTOSOMAL DOMINANT 1ClinVar, OMIM link to OMIM 2FBLN5, ELN
185500SUPRAVALVULAR AORTIC STENOSISClinVar, OMIM link to OMIM 2ELN, HRAS

Download the gene annotation in CSV format

Annotation of the gene ELN

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein digestion and absorptionhsa049746.2
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Elastic fibre formationR-HSA-15669487.49
Extracellular matrix organizationR-HSA-14742444.91
Molecules associated with elastic fibresR-HSA-21293797.73
Degradation of the extracellular matrixR-HSA-14742286.11
Associated GO terms for Molecular function
GO termGO IDGO IC
extracellular matrix structural constituentGO:00052015.37
extracellular matrix bindingGO:00508405.79
extracellular matrix constituent conferring elasticityGO:00300237.95
structural molecule activityGO:00051983.1
bindingGO:00054880.18
protein bindingGO:00055150.46
structural molecule activity conferring elasticityGO:00974937.66