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Gene

EFEMP1

EGF-like fibulin extracellular matrix protein 1

Summary

Cytogenetic location
2p16.1
Coordinates
Chromosome 2: 55,865,967–55,923,782 (GRCh38)
Exons
12 exons across 57.8 kb
Protein
493 amino acids
Inheritance
Autosomal dominant
Also known as
S1-5, FBLN3, MTLV
Previous symbols
DHRD, FBNL
MANE Select transcript
ENST00000355426.8NM_001039348.3
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.

      • 1 GenCC submitter rates it definitive or strong

  • Glaucoma

    • Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.

      • ClinGen rates the link moderate
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      IOP-lowering drops (prostaglandin analogs, beta-blockers); selective laser trabeculoplasty; MIGS surgery; trabeculotomy/goniotomy for congenital glaucoma; cascade family genetic testing; annual IOP monitoring for carriers

  • Hereditary Macular Dystrophies

    • Doyne Honeycomb Retinal DystrophyAutosomal dominant

      A dominant condition caused by changes in EFEMP1, with drusen-like deposits that can resemble early age-related macular degeneration.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Regular eye checks allow early treatment of complications.

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 EFEMP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where EFEMP1 sits. EFEMP1 and 5 genes near it on chromosome 2, from 55,394,875 to 56,394,874.Chromosome 22p16.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.355.4 Mb55.6 Mb55.8 Mb56 Mb56.2 MbCCDC88A: 55,287,363–55,420,042, reverse strandCCDC88ACFAP36: 55,519,559–55,545,501, forward strandCFAP36PPP4R3B: 55,547,292–55,618,880, reverse strandPPP4R3BPNPT1: 55,634,061–55,693,863, reverse strandPNPT1EFEMP1: 55,865,967–55,923,782, reverse strandEFEMP1CCDC85A: 56,183,751–56,386,417, forward strandCCDC85ADiagram of EFEMP1: 12 exons on the reverse strand of chromosome 2Exon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 12: 55,865,967–55,867,234, 1,268 basesExon 11: 55,870,720–55,870,915, 196 basesExon 10: 55,871,000–55,871,123, 124 basesExon 9: 55,874,946–55,875,065, 120 basesExon 8: 55,876,623–55,876,742, 120 basesExon 7: 55,877,746–55,877,865, 120 basesExon 6: 55,881,612–55,881,734, 123 basesExon 5: 55,917,665–55,918,051, 387 basesExon 4: 55,918,219–55,918,267, 49 basesExon 3: 55,922,360–55,922,447, 88 basesExon 2: 55,922,899–55,922,939, 41 basesExon 1: 55,923,711–55,923,782, 72 bases1210515′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 2.7 kb of the gene's 57.8 kb; 1,482 of those bases code for the protein.

How a genome test reads EFEMP1

6

positions in EFEMP1 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 57.8 kb of EFEMP1, introns included, not only the 2.7 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.). EFEMP1 gene: EGF-like fibulin extracellular matrix protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/efemp1

Vancouver

Dante Labs. EFEMP1 gene: EGF-like fibulin extracellular matrix protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/efemp1

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