Eln
Gene Detail

Symbol Name ID

Eln elastin MGI:95317

Synonyms

E030024M20Rik, tropoelastin

Feature Type

protein coding gene

Genetic Map

Chromosome 5

74.76 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

Chr5:134703781-134747241 bp, - strand From Ensembl annotation of GRCm38   43461 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:73880  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken

Gene Tree: Eln

Human homologs

Human Homolog		ELN, elastin
NCBI Gene ID		2006
neXtProt AC		NX_P15502
Human Synonyms		SVAS, WBS, WS
Human Chr (Location)		7q11.23; chr7:73442427-73484237 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human ELN

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

Mice homozygous for null allele die in the early postnatal period of an obstructive arterial disease. They exhibit a decrease in arterial diameter due to subendothelial accumulation of arterial smooth muscle, and display defective terminal airway development resulting in emphysematous morphology.

 
Human Diseases Modeled Using Mouse Eln (2)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (14 annotations)

Process	blood vessel remodeling, extracellular matrix organization, ...
Component	elastic fiber, extracellular region, ...
Function	extracellular matrix binding, extracellular matrix constituent conferring elasticity, ...

External Resources: FuncBase

Expression

Literature Summary: (44 records)
Data Summary: Results (309)    Tissues (72)    Images (42)
Theiler Stages: 20, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	282
Northern blot	14
RT-PCR	7
RNase protection	6

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(29) Genomic(8) cDNA(16) Primer pair(5)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000029675 (Evidence)
Entrez Gene	13717 (Evidence)
DFCI	TC1576081, TC1607289, TC1639995, TC1671124
DoTS	DT.101121883, DT.101155420, DT.492593, DT.91421740, DT.94271980
NIA Mouse Gene Index	U026806
Consensus CDS Project	CCDS19725.1
International Mouse Knockout Project Status	Eln

Sequences

Length	Strain/Species
genomic	ENSMUSG00000029675	Ensembl Gene Model | MGI Sequence Detail	43461	C57BL/6J
transcript	ENSMUST00000015138	Ensembl | MGI Sequence Detail	2583	Not Applicable
polypeptide	ENSMUSP00000015138	Ensembl | MGI Sequence Detail	860	Not Applicable

All sequences(30) RefSeq(2) UniProt(1)

Polymorphisms

All PCR and RFLP(3) : PCR(2) RFLP(1) SNPs(151 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003979	Tropoelastin
Protein Ontology	PR:000007034	elastin

References

(Earliest) J:10990 Schurr E, et al., Mapping of Col3a1 and Col6a3 to proximal murine chromosome 1 identifies conserved linkage of structural protein genes between murine chromosome 1 and human chromosome 2q. Genomics. 1990 Nov;8(3):477-86
(Latest) J:193313 Takase HM, et al., FGF7 is a functional niche signal required for stimulation of adult liver progenitor cells that support liver regeneration. Genes Dev. 2013 Jan 15;27(2):169-81
All references(111)

Other accession IDs

MGD-MRK-9357, MGI:2140853, MGI:2140912, MGI:2442008