Gene
EMILIN1
elastin microfibril interfacer 1
- HGNC 19880↗(opens in a new tab)
- Ensembl gene ENSG00000138080↗(opens in a new tab)
- NCBI Gene 11117↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 27,078,615–27,086,403 (GRCh38)
- Exons
- 8 exons across 7.8 kb
- Protein
- 1,016 amino acids
- Also known as
- DKFZp586M121, gp115, EMILIN
- MANE Select transcript
- ENST00000380320.9NM_007046.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Get my Genome TestCurated reports relevant to this gene
Charcot-Marie-Tooth Disease
- Distal Hereditary Motor Neuropathy
Inherited neuropathies that mainly affect motor nerves, causing weakness and wasting of the hands and feet, including SORD-related neuropathy.
- 1 GenCC submitter rates it definitive or strong
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
- 2 GenCC submitters rate it definitive or strong
Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How EMILIN1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.9 kb of the gene's 7.8 kb; 3,051 of those bases code for the protein.
How a genome test reads EMILIN1
1
position in EMILIN1 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 7.8 kb of EMILIN1, introns included, not only the 3.9 kb of exons.
Genes linked to the same conditions
- ATP7AATPase copper transporting alphaShares 3 conditions
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 2 conditions
- DCTN1dynactin subunit 1Shares 2 conditions
- DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 2 conditions
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 2 conditions
- FBXO38F-box protein 38Shares 2 conditions
- GARS1glycyl-tRNA synthetase 1Shares 2 conditions
- HSPB8heat shock protein family B (small) member 8Shares 2 conditions
- IGHMBP2immunoglobulin mu DNA binding protein 2Shares 2 conditions
- PLEKHG5pleckstrin homology and RhoGEF domain containing G5Shares 2 conditions
- REEP1receptor accessory protein 1Shares 2 conditions
- SIGMAR1sigma receptor chaperone 1Shares 2 conditions
Traits linked to EMILIN1
The Human Phenotype Ontology lists these as features of the rare conditions EMILIN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Aortic tortuosity
- Arterial tortuosity
- Carotid artery tortuosity
- Coronary artery aneurysm
- Postductal coarctation of the aorta
- Vertebral artery tortuosity
- Aortic regurgitation
- Ascending aortic dissection
Show 9 more traits
- Bulge in wall of root of large artery that carries blood away from heart
- Descending aortic dissection
- Disease of the heart muscle
- Retinal vascular tortuosity
- An opening in the wall separating the top two chambers of the heart
- Common origin of the right brachiocephalic artery and left common carotid artery
- High blood pressure
- Narrowing of aorta
- Stroke
Abnormality of the musculoskeletal system
- Fiber type grouping
- Multiple fractures present at birth
- Degenerative joint disease
- Double-Jointed
- Large joint hypermobility
- Low muscle tone
- Osteopenia
- Recurrent fractures
Show 2 more traits
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). EMILIN1 gene: elastin microfibril interfacer 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/emilin1
Dante Labs. EMILIN1 gene: elastin microfibril interfacer 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/emilin1
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