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Gene

EFEMP2

EGF-like fibulin extracellular matrix protein 2

Summary

Cytogenetic location
11q13.1
Coordinates
Chromosome 11: 65,866,441–65,872,800 (GRCh38)
Exons
11 exons across 6.4 kb
Protein
443 amino acids
Also known as
FBLN4, UPH1
MANE Select transcript
ENST00000307998.11NM_016938.5
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 report 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

How EFEMP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 11, with a bracket where EFEMP2 sits. EFEMP2 and 44 genes near it on chromosome 11, from 65,369,621 to 66,369,620.Chromosome 1111q13.1p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2565.4 Mb65.6 Mb65.8 Mb66 Mb66.2 MbSLC25A45: 65,375,186–65,384,550, reverse strandSLC25A45FRMD8: 65,386,592–65,413,526, forward strandFRMD8SCYL1: 65,525,044–65,538,711, forward strandSCYL1LTBP3: 65,538,556–65,558,930, reverse strandZNRD2: 65,570,459–65,574,203, forward strandZNRD2FAM89B: 65,572,349–65,574,199, forward strandEHBP1L1: 65,575,943–65,594,089, forward strandKCNK7: 65,592,836–65,595,996, reverse strandKCNK7MAP3K11: 65,597,149–65,615,382, reverse strandMAP3K11PCNX3: 65,615,742–65,637,441, forward strandPCNX3SIPA1: 65,638,086–65,650,930, forward strandSIPA1RELA: 65,653,599–65,663,138, reverse strandRELAKAT5: 65,711,992–65,719,604, forward strandKAT5RNASEH2C: 65,713,901–65,720,988, reverse strandRNASEH2CAP5B1: 65,772,723–65,781,708, reverse strandAP5B1OVOL1: 65,786,714–65,797,219, forward strandOVOL1CFL1: 65,823,022–65,862,026, reverse strandSNX32: 65,833,664–65,856,896, forward strandMUS81: 65,857,126–65,867,653, forward strandMUS81EFEMP2: 65,866,441–65,872,800, reverse strandEFEMP2CTSW: 65,879,809–65,883,741, forward strandCTSWFIBP: 65,883,740–65,888,532, reverse strandFIBPCCDC85B: 65,890,673–65,891,635, forward strandFOSL1: 65,892,049–65,900,573, reverse strandC11orf68: 65,916,810–65,919,137, reverse strandDRAP1: 65,919,258–65,921,565, forward strandTSGA10IP: 65,945,480–65,960,217, forward strandTSGA10IPSART1: 65,961,681–65,980,137, forward strandSART1EIF1AD: 65,992,009–66,002,472, reverse strandEIF1ADBANF1: 66,001,832–66,004,170, forward strandBANF1CST6: 66,011,506–66,013,505, forward strandCATSPER1: 66,016,752–66,026,479, reverse strandGAL3ST3: 66,040,748–66,049,502, reverse strandGAL3ST3SF3B2: 66,050,729–66,069,308, forward strandSF3B2PACS1: 66,070,017–66,248,638, forward strandPACS1KLC2: 66,257,267–66,267,862, forward strandKLC2RAB1B: 66,268,586–66,277,492, forward strandRAB1BCNIH2: 66,278,170–66,285,301, forward strandCNIH2YIF1A: 66,284,253–66,289,688, reverse strandYIF1ATMEM151A: 66,291,832–66,299,036, forward strandCD248: 66,314,494–66,317,044, reverse strandRIN1: 66,330,241–66,336,840, reverse strandRIN1BRMS1: 66,337,332–66,345,136, reverse strandBRMS1B4GAT1: 66,345,374–66,347,856, reverse strandB4GAT1SLC29A2: 66,360,101–66,372,476, reverse strandSLC29A2Diagram of EFEMP2: 11 exons on the reverse strand of chromosome 11Exon 11: 2 known disease-causing sitesExon 10: 5 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 5 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 11: 65,866,441–65,867,079, 639 basesExon 10: 65,867,861–65,868,056, 196 basesExon 9: 65,868,295–65,868,421, 127 basesExon 8: 65,868,510–65,868,629, 120 basesExon 7: 65,869,857–65,869,976, 120 basesExon 6: 65,870,121–65,870,237, 117 basesExon 5: 65,870,536–65,870,658, 123 basesExon 4: 65,871,157–65,871,363, 207 basesExon 3: 65,871,970–65,872,018, 49 basesExon 2: 65,872,244–65,872,361, 118 basesExon 1: 65,872,683–65,872,800, 118 bases11109876543215′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 1.9 kb of the gene's 6.4 kb; 1,332 of those bases code for the protein.

How a genome test reads EFEMP2

36

positions in EFEMP2 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 6.4 kb of EFEMP2, introns included, not only the 1.9 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.). EFEMP2 gene: EGF-like fibulin extracellular matrix protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/efemp2

Vancouver

Dante Labs. EFEMP2 gene: EGF-like fibulin extracellular matrix protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/efemp2

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