ELN (elastin)

2005-11-01  

Identity

HGNC
ELN
LOCATION
7q11.23
LOCUSID
2006
ALIAS
ADCL1,SVAS,WBS,WS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382945232024Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.0
383535032024Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.0
384421612024Elastin recoil is driven by the hydrophobic effect.0
385083282024TGF-α/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification.0
388104212024A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression.0
382945232024Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation.0
383535032024Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells.0
384421612024Elastin recoil is driven by the hydrophobic effect.0
385083282024TGF-α/EGFR signaling promotes lipopolysaccharide-induced abnormal elastin deposition and alveolar simplification.0
388104212024A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression.0
365419302023Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.2
369795092023Mechanical Properties and Functions of Elastin: An Overview.9
371402492023Assessment of fibrillin-2 and elastin gene polymorphisms in patients with a traumatic Achilles tendon rupture: Is Achilles tendon rupture a genetic disease?1
372084912023Configuration of elastin fibers in the intra- and extra-capsule ligaments of the elderly cricoarytenoid joint.0
374797182023Elastin stabilization prevents impaired biomechanics in human pulmonary arteries and pulmonary hypertension in rats with left heart disease.2

Citation

Dessen P

ELN (elastin)

Atlas Genet Cytogenet Oncol Haematol. 2005-11-01

Online version: http://atlasgeneticsoncology.org/gene/43052/eln-(elastin)