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Gene

ETFB

electron transfer flavoprotein subunit beta

Summary

Cytogenetic location
19q13.41
Coordinates
Chromosome 19: 51,345,169–51,366,388 (GRCh38)
Exons
6 exons across 21.2 kb
Protein
255 amino acids
Inheritance
Autosomal dominant Autosomal recessive
MANE Select transcript
ENST00000309244.9NM_001985.3
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

  • Fatty Acid Oxidation & Carnitine Cycle Disorders

    • Disorders of Fatty Acid Oxidation and KetogenesisAutosomal recessive

      A group of enzyme and transporter defects, including MCAD, VLCAD, LCHAD, SCAD and HADH deficiency, primary carnitine deficiency and carnitine-acylcarnitine translocase deficiency, that can cause low blood sugar, muscle breakdown, heart and liver problems during periods of fasting or illness.

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

      Knowing allows avoidance of prolonged fasting, an emergency plan for illness and, where relevant, carnitine or dietary fat modification, which can prevent life-threatening episodes.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ETFB 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 ETFB sits. ETFB and 40 genes near it on chromosome 19, from 50,855,779 to 51,855,778.Chromosome 1919q13.41p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4351 Mb51.2 Mb51.4 Mb51.6 Mb51.8 MbKLK3: 50,854,915–50,860,767, forward strandKLK3KLK2: 50,861,568–50,880,567, forward strandKLK2KLK4: 50,906,351–50,911,395, reverse strandKLK4KLK5: 50,943,249–50,953,314, reverse strandKLK5KLK6: 50,958,631–50,969,673, reverse strandKLK6KLK7: 50,976,468–50,984,099, reverse strandKLK8: 50,996,007–51,002,711, reverse strand: 50,996,018–51,009,581, reverse strandKLK9: 51,002,508–51,009,634, reverse strandKLK9KLK10: 51,012,739–51,021,048, reverse strandKLK10KLK11: 51,022,216–51,028,060, reverse strandKLK11KLK12: 51,029,092–51,035,230, reverse strandKLK12KLK13: 51,055,625–51,065,801, reverse strandKLK13KLK14: 51,077,317–51,086,530, reverse strandKLK14CTU1: 51,095,343–51,108,426, reverse strandCTU1SIGLEC9: 51,124,871–51,141,053, forward strandSIGLEC9SIGLEC7: 51,142,288–51,153,702, forward strandSIGLEC7CD33: 51,217,033–51,243,860, forward strandCD33SIGLECL1: 51,246,348–51,269,330, forward strandSIGLECL1IGLON5: 51,311,639–51,330,891, forward strandIGLON5VSIG10L: 51,331,536–51,342,310, reverse strandETFB: 51,345,169–51,366,388, reverse strandETFB: 51,350,373–51,368,099, reverse strandCLDND2: 51,367,098–51,369,003, reverse strandCLDND2NKG7: 51,371,606–51,375,628, reverse strandNKG7LIM2: 51,379,909–51,388,264, reverse strandC19orf84: 51,388,289–51,390,610, reverse strandSIGLEC10: 51,410,020–51,417,858, reverse strandSIGLEC8: 51,450,847–51,458,474, reverse strandSIGLEC8CEACAM18: 51,478,539–51,491,301, forward strandCEACAM18SIGLEC12: 51,491,227–51,501,800, reverse strandSIGLEC12SIGLEC6: 51,516,902–51,531,856, reverse strandSIGLEC6ZNF175: 51,571,250–51,592,510, forward strandZNF175SIGLEC5: 51,610,948–51,630,401, reverse strandSIGLEC5SIGLEC14: 51,639,478–51,646,825, reverse strandSIGLEC14SPACA6: 51,688,346–51,712,387, forward strandSPACA6HAS1: 51,713,106–51,723,992, reverse strandHAS1FPR1: 51,742,725–51,804,115, reverse strandFPR1FPR2: 51,752,026–51,771,307, forward strandFPR2FPR3: 51,795,131–51,827,761, forward strandFPR3ZNF577: 51,804,816–51,890,950, reverse strandZNF577Diagram of ETFB: 6 exons on the reverse strand of chromosome 19Exon 6: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 6 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 1: 1 known disease-causing siteExon 6: 51,345,169–51,345,381, 213 basesExon 5: 51,346,900–51,347,058, 159 basesExon 4: 51,350,329–51,350,391, 63 basesExon 3: 51,353,132–51,353,290, 159 basesExon 2: 51,354,150–51,354,308, 159 basesExon 1: 51,366,270–51,366,388, 119 bases6543215′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 0.9 kb of the gene's 21.2 kb; 768 of those bases code for the protein.

How a genome test reads ETFB

34

positions in ETFB 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 21.2 kb of ETFB, introns included, not only the 0.9 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.). ETFB gene: electron transfer flavoprotein subunit beta. Retrieved 16 October 2026, from https://dantelabs.com/genes/etfb

Vancouver

Dante Labs. ETFB gene: electron transfer flavoprotein subunit beta [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/etfb

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