• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ELN (HGNC:3327) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
elastin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
WBS, WS, SVAS
%HI
8.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.87(Read more about gnomAD LOEUF score)
Cytoband
7q11.23
Genomic Coordinates
GRCh37/hg19: chr7:73442503-73484237 NCBI Ensembl UCSC
GRCh38/hg38: chr7:74028173-74069907 NCBI Ensembl UCSC
MANE Select Transcript
NM_000501.4 ENST00000252034.12 (Read more about MANE Select)
Function
Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity). {ECO:0000250|UniProtKB:P54320}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-7735
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
07/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence Comments:
Heterozygous deletion and certain sequence-level mutations of ELN cause supravalvular aortic stenosis (SVAS) by a pathogenic mechanism of haploinsufficiency. See MIM ID#185500 and MIM#130160 for summary of literature specific to haploinsufficiency of ELN and SVAS. Haploinsufficiency for ELN also contributes to the vascular and connective tissue abnormalities observed in the 7q11.23 contiguous gene deletion disorder, Williams-Beuren syndrome (WBS)(MIM #194050).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
ELN is duplicated in the chromosome 7q11.23 microduplication syndrome (MIM #609757), however it is not known whether increased gene dosage contributes to any of the associated phenotypes; focal ELN duplication has not been reported. Intragenic duplication and certain sequence-level mutations of ELN can cause autosomal dominant cutis laxa (MIM #123700 and MIM#130160) by a dominant-negative mechanism of pathogenesis.

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)