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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ELN
elastin
Chromosome 7 Β· 7q11.23
NCBI Gene: 2006Ensembl: ENSG00000049540.19HGNC: HGNC:3327UniProt: B3KRT8
311PubMed Papers
22Diseases
1Drugs
197Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular matrixelastic fiberprotein bindingoutflow tract morphogenesissupravalvular aortic stenosiscutis laxa, autosomal dominant 1autosomal dominant cutis laxaInguinal hernia
✦AI Summary

I cannot provide a gene function summary for ELN (elastin) based on the provided PubMed abstracts. All six abstracts discuss European LeukemiaNet (ELN) clinical recommendations for hematologic malignancies including acute myeloid leukemia, chr7 myeloid leukemia, acute lymphoblastic leukemia, polycythemia vera, and thrombocytosis. None of these abstracts contain information about the ELN gene, its protein product elastin, or its biological function. The ELN acronym in these abstracts refers to an international expert panel organization, not the elastin gene. To provide an accurate gene function summary for ELN/elastinβ€”including its role as a major structural protein of elastic tissues, its function in arterial morphogenesis and vascular smooth muscle organization, and its involvement in diseases such as cutis laxa and supravalvular aortic stenosisβ€”would require PubMed abstracts specifically focused on elastin biology, extracellular matrix function, or elastin-related genetic disorders. The provided abstracts do not support any claims about elastin gene function.

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
supravalvular aortic stenosisOpen Targets
0.78Strong
cutis laxa, autosomal dominant 1Open Targets
0.73Strong
autosomal dominant cutis laxaOpen Targets
0.64Moderate
Inguinal herniaOpen Targets
0.58Moderate
diverticular diseaseOpen Targets
0.56Moderate
Hernia of the abdominal wallOpen Targets
0.54Moderate
HerniaOpen Targets
0.52Moderate
skin agingOpen Targets
0.51Moderate
genetic disorderOpen Targets
0.49Moderate
hemorrhoidOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
Williams syndromeOpen Targets
0.47Moderate
eyelid diseaseOpen Targets
0.45Moderate
DermatochalasisOpen Targets
0.43Moderate
cutis laxaOpen Targets
0.38Weak
diaphragmatic herniaOpen Targets
0.36Weak
Venous thrombosisOpen Targets
0.35Weak
intestinal diseaseOpen Targets
0.35Weak
chronic kidney diseaseOpen Targets
0.34Weak
Abnormal digit morphologyOpen Targets
0.34Weak
Cutis laxa, autosomal dominant, 1UniProt
Supravalvular aortic stenosisUniProt
Pathogenic Variants197
NM_000501.4(ELN):c.800-3C>GPathogenic
Supravalvar aortic stenosis|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026
NM_000501.4(ELN):c.800-2A>GPathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025
NM_000501.4(ELN):c.2T>C (p.Met1Thr)Pathogenic
not provided|Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_000501.4(ELN):c.391C>T (p.Gln131Ter)Pathogenic
Supravalvar aortic stenosis|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 131
NM_000501.4(ELN):c.757del (p.Gln253fs)Pathogenic
not provided|Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 253
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter)Pathogenic
not provided|Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 150
NM_000501.4(ELN):c.295_296del (p.Ala99fs)Pathogenic
not provided|Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 99
NM_000501.4(ELN):c.171del (p.Pro58fs)Pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 58
NM_000501.4(ELN):c.814G>T (p.Gly272Ter)Pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 272
NM_000501.4(ELN):c.377-2A>GPathogenic
Supravalvar aortic stenosis|not provided
β˜…β˜…β˜†β˜†2025
NM_000501.4(ELN):c.889+1G>APathogenic
not provided|Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025
NM_000501.4(ELN):c.1733del (p.Pro578fs)Pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2025β†’ Residue 578
NM_000501.4(ELN):c.69del (p.Ser24fs)Pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024β†’ Residue 24
NM_000501.4(ELN):c.686-2A>GLikely pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024
NM_000501.4(ELN):c.800-1G>APathogenic
not provided|Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis|ELN-related disorder
β˜…β˜…β˜†β˜†2024
NM_000501.4(ELN):c.82+1G>APathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter)Pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024β†’ Residue 428
NM_000501.4(ELN):c.166del (p.Leu56fs)Pathogenic
Supravalvar aortic stenosis|Williams syndrome;Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024β†’ Residue 56
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter)Pathogenic
Supravalvar aortic stenosis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 442
NM_000501.4(ELN):c.643+1G>CLikely pathogenic
Supravalvar aortic stenosis
β˜…β˜…β˜†β˜†2024
View on ClinVar β†—
Drug Targets1
VONAPANITASEPhase III
Elastin proteolytic enzyme
peripheral arterial disease
Related Genes
TGFB1Protein interaction100%CDC7Protein interaction100%CTSAProtein interaction100%FN1Protein interaction100%ACANProtein interaction99%BGNProtein interaction99%
Tissue Expression6 tissues
Lung
100%
Heart
72%
Ovary
25%
Brain
11%
Liver
9%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ELNTGFB1CDC7CTSAFN1ACANBGN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P15502
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.56 [0.46–0.70]
RankingsWhere ELN stands among ~20K protein-coding genes
  • #1,099of 20,598
    Most Researched311 Β· top 10%
  • #345of 5,498
    Most Pathogenic Variants197 Β· top 10%
  • #5,275of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedELN
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN.
PMID: 35797463
Blood Β· 2022
1.00
2
Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel.
PMID: 27895058
Blood Β· 2017
0.90
3
Criteria for Diagnosis and Molecular Monitoring of NPM1-Mutated AML.
PMID: 37917833
Blood Cancer Discov Β· 2024
0.80
4
PMID: 36173875
0.72
5
Genetic risk classification for adults with AML receiving less-intensive therapies: the 2024 ELN recommendations.
PMID: 39133932
Blood Β· 2024
0.70