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Gene Information
Gene ID:2006
Symbol:ELN
Full Name:elastin (supravalvular aortic stenosis, Williams-Beuren syndrome)
Alias:FLJ38671|FLJ43523|SVAS|WBS|WS
Organism:Homo sapiens (Human)
Chromosome:7
Genetic Location:7q11.23
Physical Location:73080362-73122172 on NC_000007.12
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:ELN
Dataset Information
Name:Literature Search
Method:Literature search
Summary:We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000501.2NP_000492.2NC_000007.12 range: 73080362..73122172
NM_001081752.1NP_001075221.1NC_000007.12 range: 73080362..73122172
NM_001081753.1NP_001075222.1NC_000007.12 range: 73080362..73122172
NM_001081754.1NP_001075223.1NC_000007.12 range: 73080362..73122172
NM_001081755.1NP_001075224.1NC_000007.12 range: 73080362..73122172
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005576extracellular regionCellular ComponentIEA
GO:0005578proteinaceous extracellular matrixCellular ComponentIEA
GO:0005578proteinaceous extracellular matrixCellular ComponentNAS
GO:0005737cytoplasmCellular ComponentIEA
GO:0004519endonuclease activityMolecular FunctionIEA
GO:0008415acyltransferase activityMolecular FunctionIEA
GO:0030023extracellular matrix constituent conferring elasticityMolecular FunctionNAS
GO:0005525GTP bindingMolecular FunctionIEA
GO:0005201extracellular matrix structural constituentMolecular FunctionIEA
GO:0007585respiratory gaseous exchangeBiological ProcessTAS (9873040)
GO:0008015blood circulationBiological ProcessTAS (8096434|9873040)
GO:0008283cell proliferationBiological ProcessTAS (9607766)
GO:0009887organ morphogenesisBiological ProcessTAS (9580666)
GO:0006281DNA repairBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:2006
HGNC:3327
Ensembl:ENSG00000049540
MIM:130160
HPRD:00556
HuGE Navigator:2006
dbSNP:ELN
GeneCard:ELN
AceView:ELN