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Gene

GSN

gelsolin

Summary

Cytogenetic location
9q33.2
Coordinates
Chromosome 9: 121,268,162–121,332,842 (GRCh38)
Exons
18 exons across 64.7 kb
Protein
731 amino acids
Inheritance
Autosomal dominant
Also known as
DKFZp313L0718
MANE Select transcript
ENST00000432226.7NM_198252.3
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

  • Hereditary Amyloidosis

    • Autosomal dominant

      Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).

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

      Tafamidis (kinetic stabilizer), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisense), liver transplantation

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

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

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

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 GSN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where GSN sits. GSN and 10 genes near it on chromosome 9, from 120,800,502 to 121,800,501.Chromosome 99q33.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3121 Mb121.2 Mb121.4 Mb121.6 Mb121.8 MbB3GALT9: 120,792,403–120,801,787, forward strandB3GALT9PSMD5: 120,815,496–120,843,388, reverse strandPSMD5PHF19: 120,854,422–120,894,903, reverse strandPHF19TRAF1: 120,902,393–120,931,875, reverse strandTRAF1C5: 120,932,987–121,075,195, reverse strandC5CNTRL: 121,074,660–121,177,786, forward strandCNTRLRAB14: 121,178,133–121,223,014, reverse strandRAB14GSN: 121,268,162–121,332,842, forward strandGSNSTOM: 121,328,424–121,370,304, reverse strandSTOMGGTA1: 121,444,988–121,513,399, reverse strandGGTA1DAB2IP: 121,567,057–121,785,530, forward strandDAB2IPDiagram of GSN: 18 exons on the forward strand of chromosome 9Exon 5: 2 known disease-causing sitesExon 1: 121,268,162–121,268,219, 58 basesExon 2: 121,281,470–121,281,562, 93 basesExon 3: 121,301,963–121,302,167, 205 basesExon 4: 121,302,911–121,303,065, 155 basesExon 5: 121,310,684–121,310,845, 162 basesExon 6: 121,312,339–121,312,488, 150 basesExon 7: 121,313,934–121,314,023, 90 basesExon 8: 121,317,086–121,317,218, 133 basesExon 9: 121,318,406–121,318,494, 89 basesExon 10: 121,318,665–121,318,880, 216 basesExon 11: 121,321,268–121,321,401, 134 basesExon 12: 121,324,554–121,324,644, 91 basesExon 13: 121,326,512–121,326,682, 171 basesExon 14: 121,327,308–121,327,482, 175 basesExon 15: 121,328,891–121,329,015, 125 basesExon 16: 121,329,238–121,329,315, 78 basesExon 17: 121,331,388–121,331,448, 61 basesExon 18: 121,332,434–121,332,842, 409 bases1246810121416185′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 64.7 kb; 2,196 of those bases code for the protein.

How a genome test reads GSN

3

positions in GSN 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 64.7 kb of GSN, 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.). GSN gene: gelsolin. Retrieved 17 October 2026, from https://dantelabs.com/genes/gsn

Vancouver

Dante Labs. GSN gene: gelsolin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gsn

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