Skip to content
Use your HSA or FSA funds

Gene

FASTKD2

FASTK mitochondrial RNA regulator 2

Summary

Cytogenetic location
2q33.3
Coordinates
Chromosome 2: 206,765,606–206,796,189 (GRCh38)
Exons
12 exons across 30.6 kb
Protein
710 amino acids
Previous symbols
KIAA0971
MANE Select transcript
ENST00000402774.8NM_001136193.2
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

  • Primary Mitochondrial Disease

    • Combined Oxidative Phosphorylation Deficiency

      Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing can end a diagnostic search and guide surveillance and supportive care.

How FASTKD2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where FASTKD2 sits. FASTKD2 and 7 genes near it on chromosome 2, from 206,280,898 to 207,280,897.Chromosome 22q33.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3206.4 Mb206.6 Mb206.8 Mb207 Mb207.2 MbZDBF2: 206,274,653–206,393,968, forward strandZDBF2ADAM23: 206,443,369–206,621,301, forward strandADAM23FAM237A: 206,642,417–206,649,365, forward strandFAM237ADYTN: 206,651,621–206,721,570, reverse strandDYTNMDH1B: 206,737,763–206,765,337, reverse strandMDH1BFASTKD2: 206,765,606–206,796,189, forward strandFASTKD2CPO: 206,939,516–206,971,064, forward strandCPOKLF7: 207,074,137–207,173,856, reverse strandKLF7Diagram of FASTKD2: 12 exons on the forward strand of chromosome 2Exon 2: 6 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 2 known disease-causing sitesExon 1: 206,765,606–206,765,747, 142 basesExon 2: 206,766,644–206,767,470, 827 basesExon 3: 206,770,091–206,770,194, 104 basesExon 4: 206,771,182–206,771,290, 109 basesExon 5: 206,771,894–206,772,017, 124 basesExon 6: 206,772,181–206,772,320, 140 basesExon 7: 206,774,225–206,774,397, 173 basesExon 8: 206,786,733–206,786,899, 167 basesExon 9: 206,787,937–206,788,155, 219 basesExon 10: 206,788,819–206,788,903, 85 basesExon 11: 206,790,572–206,790,686, 115 basesExon 12: 206,791,683–206,796,189, 4,507 bases1246810125′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 6.7 kb of the gene's 30.6 kb; 2,133 of those bases code for the protein.

How a genome test reads FASTKD2

23

positions in FASTKD2 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 30.6 kb of FASTKD2, introns included, not only the 6.7 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.). FASTKD2 gene: FASTK mitochondrial RNA regulator 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/fastkd2

Vancouver

Dante Labs. FASTKD2 gene: FASTK mitochondrial RNA regulator 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fastkd2

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test