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Gene

OPA3

outer mitochondrial membrane lipid metabolism regulator OPA3

Summary

Cytogenetic location
19q13.32
Coordinates
Chromosome 19: 45,546,281–45,584,802 (GRCh38)
Exons
2 exons across 38.5 kb
Protein
179 amino acids
Also known as
FLJ22187, MGA3
MANE Select transcript
ENST00000263275.5NM_025136.4
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 report relevant to this gene

  • Hereditary Optic Neuropathy

    • Hereditary Optic Atrophy

      Inherited loss of optic nerve fibres, most often autosomal dominant optic atrophy caused by changes in OPA1, and including rarer types caused by OPA3, DNM1L, SSBP1 and other genes.

      • ClinGen rates the link moderate
      • 4 GenCC submitters rate it definitive or strong

How OPA3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where OPA3 sits. OPA3 and 40 genes near it on chromosome 19, from 45,065,542 to 46,065,541.Chromosome 1919q13.32p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4345.2 Mb45.4 Mb45.6 Mb45.8 Mb46 MbCLASRP: 45,039,042–45,070,956, forward strandZNF296: 45,071,500–45,076,485, reverse strandZNF296GEMIN7: 45,075,575–45,091,518, forward strandGEMIN7MARK4: 45,079,288–45,305,284, forward strandMARK4PPP1R37: 45,091,396–45,148,077, forward strandNKPD1: 45,149,744–45,160,982, reverse strandNKPD1BLOC1S3: 45,152,811–45,216,933, forward strandBLOC1S3TRAPPC6A: 45,162,928–45,178,268, reverse strandTRAPPC6AEXOC3L2: 45,210,600–45,245,429, reverse strandEXOC3L2CKM: 45,306,411–45,323,372, reverse strandCKMKLC3: 45,333,434–45,351,537, forward strandKLC3ERCC2: 45,349,773–45,370,918, reverse strandERCC2PPP1R13L: 45,379,634–45,406,367, reverse strandPPP1R13LPOLR1G: 45,406,644–45,410,737, forward strandPOLR1GERCC1: 45,407,333–45,479,055, reverse strandERCC1FOSB: 45,467,989–45,475,179, forward strandFOSBRTN2: 45,485,292–45,497,055, reverse strandRTN2PPM1N: 45,488,777–45,503,129, forward strandPPM1NVASP: 45,506,579–45,527,839, forward strandVASPOPA3: 45,546,281–45,584,802, reverse strandOPA3GPR4: 45,588,565–45,602,556, reverse strandGPR4EML2: 45,606,994–45,645,617, reverse strandEML2GIPR: 45,668,207–45,683,722, forward strandGIPRSNRPD2: 45,677,907–45,692,569, reverse strandSNRPD2QPCTL: 45,692,403–45,703,989, forward strandQPCTLFBXO46: 45,710,624–45,730,931, reverse strandFBXO46MEIOSIN: 45,733,439–45,764,541, forward strandMEIOSINSIX5: 45,764,767–45,769,252, reverse strandSIX5DMPK: 45,769,709–45,782,794, reverse strandDMPK: 45,779,437–45,785,973, reverse strandDMWD: 45,782,944–45,792,949, reverse strandRSPH6A: 45,795,713–45,815,308, reverse strandSYMPK: 45,815,410–45,866,862, reverse strandSYMPKFOXA3: 45,863,989–45,873,798, forward strandFOXA3IRF2BP1: 45,883,608–45,886,141, reverse strandIRF2BP1MYPOP: 45,890,020–45,902,808, reverse strandMYPOPNANOS2: 45,913,214–45,914,778, reverse strandNANOS2NOVA2: 45,933,734–45,974,044, reverse strandNOVA2CCDC61: 45,995,444–46,021,318, forward strandCCDC61PGLYRP1: 46,019,153–46,023,367, reverse strandPGLYRP1IGFL4: 46,039,182–46,077,118, reverse strandIGFL4Diagram of OPA3: 2 exons on the reverse strand of chromosome 19Exon 2: 12 known disease-causing sitesExon 1: 11 known disease-causing sitesExon 2: 45,546,281–45,553,911, 7,631 basesExon 1: 45,584,623–45,584,802, 180 bases215′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 7.8 kb of the gene's 38.5 kb; 540 of those bases code for the protein.

How a genome test reads OPA3

29

positions in OPA3 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 38.5 kb of OPA3, introns included, not only the 7.8 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.). OPA3 gene: outer mitochondrial membrane lipid metabolism regulator OPA3. Retrieved 16 October 2026, from https://dantelabs.com/genes/opa3

Vancouver

Dante Labs. OPA3 gene: outer mitochondrial membrane lipid metabolism regulator OPA3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/opa3

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