elastin

Summary
Gene Symbol
  • ELN
Organism
Homo sapiens (human)
NCBI Gene
2006
PubChem
2006
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disulfide bond
  • Extracellular matrix
  • Hydroxylation
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Williams-Beuren syndrome
Proteins
Displaying all 10 entries
UniProt Protein Name
Q6ZUN2
  • Tropoelastin
B3KRT8
  • Tropoelastin
Q59H17
G5E950
  • Tropoelastin
P15502
  • Tropoelastin
E7EN65
  • Tropoelastin
Q8NBI4
  • Tropoelastin
B4E3S4
  • Tropoelastin
G3V0G6
  • Tropoelastin
E7ENM0
  • Tropoelastin
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 18 in total
DO ID Disease Name Source
DOID:0070130 autosomal dominant cutis laxa 1
DOID:0080745 polymyositis
DOID:10873 Kuhnt-Junius degeneration
DOID:13375 temporal arteritis
DOID:1712 aortic valve stenosis
DOID:1928 Williams-Beuren syndrome
DOID:1929 supravalvular aortic stenosis
DOID:2738 pseudoxanthoma elasticum
DOID:3083 chronic obstructive pulmonary disease
DOID:3144 cutis laxa
Ortholog
Displaying entries 11 - 14 of 14 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
112935718 VULVU32218
113883237 BOBOX18112
115603120 STRHB06463
117025160 RHIFE12742

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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