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Gene basic information

LiverAtlas Gene ID

HuLG001397

Entrez Gene ID

2006

Official Gene Symbol

ELN

Synonyms

FLJ38671|FLJ43523|SVAS|WBS|WS

Gene name

elastin

Gene Type

protein-coding

Chromosome

7

Genomics Location

7q11.23

Known cancer genes

Yes

Protein products

Elastin

Elastin (Supravalvular aortic stenosis, Williams-Beuren syndrome), isoform CRA l

Uncharacterized protein

Elastin

Related liver disease name

Liver fibrosis and liver cirrhosis

Database cross reference

HGNC:3327
MIM:130160
Ensembl:ENSG00000049540
HPRD:00556
RefSeq Genomic nucleotide accession:AC_000050
RefSeq Genomic nucleotide gi:89161211

 

Ontology annotation

GO ID

GO annotation

GO:0005201

extracellular matrix structural constituent

GO:0005515

protein binding

GO:0005576

extracellular region

GO:0005578

proteinaceous extracellular matrix

GO:0007585

respiratory gaseous exchange

GO:0008015

blood circulation

GO:0008283

cell proliferation

GO:0009887

organ morphogenesis

GO:0030023

extracellular matrix constituent conferring elasticity