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Gene

FBLN5

fibulin 5

Summary

Cytogenetic location
14q32.12
Coordinates
Chromosome 14: 91,869,411–91,947,694 (GRCh38)
Exons
11 exons across 78.3 kb
Protein
448 amino acids
Also known as
EVEC, UP50, DANCE, ARMD3
MANE Select transcript
ENST00000342058.9NM_006329.4
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.

      • 4 GenCC submitters rate it definitive or strong

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

How FBLN5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where FBLN5 sits. FBLN5 and 9 genes near it on chromosome 14, from 91,408,553 to 92,408,552.Chromosome 1414q32.12p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3391.6 Mb91.8 Mb92 Mb92.2 Mb92.4 MbCCDC88C: 91,271,323–91,417,890, reverse strandCCDC88CPPP4R3A: 91,457,139–91,510,556, reverse strandPPP4R3ACATSPERB: 91,580,696–91,780,707, reverse strandCATSPERBTC2N: 91,779,746–91,867,536, reverse strandTC2NFBLN5: 91,869,411–91,947,694, reverse strandFBLN5TRIP11: 91,965,991–92,040,902, reverse strandTRIP11ATXN3: 92,044,482–92,106,625, reverse strandATXN3NDUFB1: 92,115,820–92,121,978, reverse strandNDUFB1CPSF2: 92,121,512–92,172,145, forward strandCPSF2SLC24A4: 92,322,581–92,501,481, forward strandSLC24A4Diagram of FBLN5: 11 exons on the reverse strand of chromosome 14Exon 11: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 11: 91,869,411–91,870,385, 975 basesExon 10: 91,877,487–91,877,682, 196 basesExon 9: 91,881,292–91,881,418, 127 basesExon 8: 91,882,954–91,883,076, 123 basesExon 7: 91,887,193–91,887,312, 120 basesExon 6: 91,891,221–91,891,337, 117 basesExon 5: 91,894,950–91,895,072, 123 basesExon 4: 91,936,947–91,937,201, 255 basesExon 3: 91,940,565–91,940,616, 52 basesExon 2: 91,942,907–91,942,961, 55 basesExon 1: 91,947,213–91,947,694, 482 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 2.6 kb of the gene's 78.3 kb; 1,347 of those bases code for the protein.

How a genome test reads FBLN5

6

positions in FBLN5 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 78.3 kb of FBLN5, introns included, not only the 2.6 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.). FBLN5 gene: fibulin 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/fbln5

Vancouver

Dante Labs. FBLN5 gene: fibulin 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fbln5

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