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Gene

C2orf69

chromosome 2 open reading frame 69

Summary

Cytogenetic location
2q33.1
Coordinates
Chromosome 2: 199,911,293–199,928,273 (GRCh38)
Exons
2 exons across 17 kb
Protein
385 amino acids
Also known as
FLJ38973
MANE Select transcript
ENST00000319974.6NM_153689.6
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 C2orf69 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 C2orf69 sits. C2orf69 and 5 genes near it on chromosome 2, from 199,419,783 to 200,419,782.Chromosome 22q33.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3199.6 Mb199.8 Mb200 Mb200.2 Mb200.4 MbSATB2: 199,268,900–199,471,271, reverse strandSATB2FTCDNL1: 199,758,265–199,851,214, reverse strandFTCDNL1C2orf69: 199,911,293–199,928,273, forward strandC2orf69TYW5: 199,928,913–199,955,818, reverse strandTYW5MAIP1: 199,955,317–200,008,540, forward strandMAIP1SPATS2L: 200,305,881–200,482,264, forward strandSPATS2LDiagram of C2orf69: 2 exons on the forward strand of chromosome 2Exon 1: 2 known disease-causing sitesExon 1: 199,911,293–199,911,771, 479 basesExon 2: 199,925,062–199,928,273, 3,212 bases125′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 3.7 kb of the gene's 17 kb; 1,158 of those bases code for the protein.

How a genome test reads C2orf69

2

positions in C2orf69 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 17 kb of C2orf69, introns included, not only the 3.7 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.). C2orf69 gene: chromosome 2 open reading frame 69. Retrieved 16 October 2026, from https://dantelabs.com/genes/c2orf69

Vancouver

Dante Labs. C2orf69 gene: chromosome 2 open reading frame 69 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/c2orf69

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