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Gene

OPTN

optineurin

Summary

Cytogenetic location
10p13
Coordinates
Chromosome 10: 13,100,163–13,138,308 (GRCh38)
Exons
15 exons across 38.1 kb
Protein
577 amino acids
Also known as
FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7
Previous symbols
GLC1E
MANE Select transcript
ENST00000378747.8NM_001008212.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Amyotrophic Lateral Sclerosis (ALS)

    • Amyotrophic Lateral Sclerosis

      A neurodegenerative disorder of upper and lower motor neurons, occurring in sporadic and familial forms.

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

      Tofersen (Qalsody, FDA 2023) for SOD1-ALS; ASO trials for C9orf72 and FUS; riluzole; edaravone; AMX0035 (sodium phenylbutyrate-taurursodiol); multidisciplinary ALS clinic care; respiratory support; genetic counseling for family members

  • Glaucoma

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

      • 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

How OPTN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where OPTN sits. OPTN and 8 genes near it on chromosome 10, from 12,619,236 to 13,619,235.Chromosome 1010p13p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.312.8 Mb13 Mb13.2 Mb13.4 Mb13.6 MbCAMK1D: 12,349,513–12,835,545, forward strandCAMK1DCCDC3: 12,896,625–13,099,652, reverse strandCCDC3OPTN: 13,100,163–13,138,308, forward strandOPTNMCM10: 13,161,526–13,211,110, forward strandMCM10UCMA: 13,220,609–13,234,428, reverse strandUCMAPHYH: 13,276,854–13,302,412, reverse strandPHYHSEPHS1: 13,317,425–13,348,596, reverse strandSEPHS1BEND7: 13,438,484–13,529,287, reverse strandBEND7PRPF18: 13,586,922–13,668,445, forward strandPRPF18Diagram of OPTN: 15 exons on the forward strand of chromosome 10Exon 3: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 6 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 1: 13,100,163–13,100,302, 140 basesExon 2: 13,108,138–13,108,289, 152 basesExon 3: 13,109,112–13,109,288, 177 basesExon 4: 13,110,274–13,110,476, 203 basesExon 5: 13,112,453–13,112,635, 183 basesExon 6: 13,116,267–13,116,340, 74 basesExon 7: 13,118,888–13,119,040, 153 basesExon 8: 13,122,385–13,122,487, 103 basesExon 9: 13,123,995–13,124,110, 116 basesExon 10: 13,125,418–13,125,567, 150 basesExon 11: 13,125,946–13,126,039, 94 basesExon 12: 13,127,745–13,127,903, 159 basesExon 13: 13,132,067–13,132,197, 131 basesExon 14: 13,133,502–13,133,581, 80 basesExon 15: 13,136,745–13,138,308, 1,564 bases12468101214155′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 3.5 kb of the gene's 38.1 kb; 1,734 of those bases code for the protein.

How a genome test reads OPTN

52

positions in OPTN 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 38.1 kb of OPTN, introns included, not only the 3.5 kb of exons.

Genes linked to the same conditions

Traits linked to OPTN

The Human Phenotype Ontology lists these as features of the rare conditions OPTN can cause. Each trait's page lists the other genes linked to it.

External links

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.). OPTN gene: optineurin. Retrieved 17 October 2026, from https://dantelabs.com/genes/optn

Vancouver

Dante Labs. OPTN gene: optineurin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/optn

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