ELN (elastin)

2005-11-01  

Identity

HGNC
LOCATION
7q11.23
LOCUSID
ALIAS
ADCL1,SVAS,WBS,WS
FUSION GENES

Other Information

Locus ID:

NCBI: 2006
MIM: 130160
HGNC: 3327
Ensembl: ENSG00000049540

Variants:

dbSNP: 2006
ClinVar: 2006
TCGA: ENSG00000049540
COSMIC: ELN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049540ENST00000252034P15502
ENSG00000049540ENST00000320399P15502
ENSG00000049540ENST00000320399A7L3I8
ENSG00000049540ENST00000320492G5E950
ENSG00000049540ENST00000357036P15502
ENSG00000049540ENST00000358929P15502
ENSG00000049540ENST00000380553P15502
ENSG00000049540ENST00000380562P15502
ENSG00000049540ENST00000380575P15502
ENSG00000049540ENST00000380576P15502
ENSG00000049540ENST00000380584P15502
ENSG00000049540ENST00000414324G3V0G6
ENSG00000049540ENST00000416107E9PGX4
ENSG00000049540ENST00000417091E7ENW7
ENSG00000049540ENST00000419398H7C3K0
ENSG00000049540ENST00000428787E7EWS8
ENSG00000049540ENST00000429192P15502
ENSG00000049540ENST00000431562E7EQH8
ENSG00000049540ENST00000438880E7EP82
ENSG00000049540ENST00000438906E7ETP7
ENSG00000049540ENST00000442310E7EN51
ENSG00000049540ENST00000445912E7ENM0
ENSG00000049540ENST00000458204E7EN65
ENSG00000049540ENST00000621115B3KRT8

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
194782332009Effect of aging on elastin functionality in human cerebral arteries.64
172551082007Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.54
120165852002Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.51
213681782011Shape of tropoelastin, the highly extensible protein that controls human tissue elasticity.46
196176252009Cell adhesion to tropoelastin is mediated via the C-terminal GRKRK motif and integrin alphaVbeta3.43
176268962007Functional rescue of elastin insufficiency in mice by the human elastin gene: implications for mouse models of human disease.40
195709822009Differential regulation of elastic fiber formation by fibulin-4 and -5.40
160856952006Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.38

Citation

Dessen P

ELN (elastin)

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/gene/43052/eln