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Gene

ELN

elastin

Summary

Cytogenetic location
7q11.23
Coordinates
Chromosome 7: 74,028,173–74,069,907 (GRCh38)
Exons
33 exons across 41.7 kb
Protein
724 amino acids
Inheritance
Autosomal dominant
Also known as
WBS, WS, SVAS
MANE Select transcript
ENST00000252034.12NM_000501.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Cutis Laxa

    • Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

  • Inherited Congenital Heart Defects

    • Supravalvular Aortic StenosisAutosomal dominant

      A narrowing of the aorta just above the heart valve, caused by changes in ELN, which can also affect other arteries.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart and blood vessel imaging and screening of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ELN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where ELN sits. ELN and 18 genes near it on chromosome 7, from 73,549,040 to 74,549,039.Chromosome 77q11.23p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.373.6 Mb73.8 Mb74 Mb74.2 Mb74.4 MbBCL7B: 73,536,355–73,558,017, reverse strandBCL7BTBL2: 73,567,537–73,578,791, reverse strandTBL2MLXIPL: 73,593,194–73,624,575, reverse strandMLXIPLVPS37D: 73,667,831–73,682,024, forward strandVPS37DDNAJC30: 73,680,918–73,683,453, reverse strandDNAJC30BUD23: 73,683,161–73,698,228, forward strandBUD23STX1A: 73,699,205–73,719,706, reverse strandSTX1AABHD11: 73,736,091–73,738,864, reverse strandABHD11CLDN3: 73,768,997–73,770,270, reverse strandCLDN3CLDN4: 73,799,542–73,832,690, forward strandCLDN4METTL27: 73,832,679–73,842,540, reverse strandMETTL27TMEM270: 73,861,159–73,865,891, forward strandTMEM270ELN: 74,028,173–74,069,907, forward strandELNLIMK1: 74,082,933–74,122,527, forward strandLIMK1EIF4H: 74,174,127–74,197,122, forward strandEIF4HLAT2: 74,199,652–74,242,501, forward strandLAT2RFC2: 74,223,231–74,254,458, reverse strandRFC2CLIP2: 74,289,407–74,405,943, forward strandCLIP2GTF2IRD1: 74,452,463–74,602,619, forward strandGTF2IRD1Diagram of ELN: 33 exons on the forward strand of chromosome 7Exon 1: 9 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 5 known disease-causing sitesExon 13: 4 known disease-causing sitesExon 14: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 5 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 20: 12 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 22: 1 known disease-causing siteExon 23: 5 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 25: 5 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 27: 2 known disease-causing sitesExon 28: 1 known disease-causing siteExon 29: 3 known disease-causing sitesExon 31: 2 known disease-causing sitesExon 33: 1 known disease-causing siteExon 1: 74,028,173–74,028,269, 97 basesExon 2: 74,035,364–74,035,414, 51 basesExon 3: 74,036,555–74,036,584, 30 basesExon 4: 74,037,707–74,037,739, 33 basesExon 5: 74,041,216–74,041,251, 36 basesExon 6: 74,042,614–74,042,706, 93 basesExon 7: 74,042,984–74,043,034, 51 basesExon 8: 74,043,118–74,043,168, 51 basesExon 9: 74,043,879–74,043,920, 42 basesExon 10: 74,045,222–74,045,293, 72 basesExon 11: 74,046,188–74,046,217, 30 basesExon 12: 74,046,696–74,046,767, 72 basesExon 13: 74,047,675–74,047,716, 42 basesExon 14: 74,048,142–74,048,201, 60 basesExon 15: 74,048,503–74,048,556, 54 basesExon 16: 74,051,750–74,051,839, 90 basesExon 17: 74,051,924–74,051,983, 60 basesExon 18: 74,053,163–74,053,309, 147 basesExon 19: 74,054,716–74,054,769, 54 basesExon 20: 74,056,271–74,056,435, 165 basesExon 21: 74,056,672–74,056,713, 42 basesExon 22: 74,057,640–74,057,696, 57 basesExon 23: 74,059,886–74,060,047, 162 basesExon 24: 74,060,140–74,060,184, 45 basesExon 25: 74,060,376–74,060,501, 126 basesExon 26: 74,061,101–74,061,139, 39 basesExon 27: 74,063,153–74,063,224, 72 basesExon 28: 74,063,310–74,063,369, 60 basesExon 29: 74,063,621–74,063,695, 75 basesExon 30: 74,065,694–74,065,732, 39 basesExon 31: 74,065,944–74,065,997, 54 basesExon 32: 74,066,732–74,066,776, 45 basesExon 33: 74,068,657–74,069,907, 1,251 bases151015202530335′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.4 kb of the gene's 41.7 kb; 2,175 of those bases code for the protein.

How a genome test reads ELN

154

positions in ELN where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 41.7 kb of ELN, introns included, not only the 3.4 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ELN gene: elastin. Retrieved 17 October 2026, from https://dantelabs.com/genes/eln

Vancouver

Dante Labs. ELN gene: elastin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/eln

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