Skip to content
Use your HSA or FSA funds

Gene

SCO2

synthesis of cytochrome C oxidase 2

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 50,523,568–50,525,598 (GRCh38)
Exons
2 exons across 2 kb
Protein
266 amino acids
Also known as
SCO1L
Previous symbols
MYP6
MANE Select transcript
ENST00000395693.8NM_005138.3
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

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • ClinGen rates the link moderate
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    • Leigh Syndrome

      • One of 69 genes linked to it

        A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    • Primary Mitochondrial Disease

      • Mitochondrial Respiratory Chain Complex Deficiency

        One of 61 genes linked to it

        Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.

        • 3 GenCC submitters rate it definitive or strong
        What knowing changes

        Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.

    How SCO2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    Chromosome 22, with a bracket where SCO2 sits. SCO2 and 30 genes near it on chromosome 22, from 50,024,583 to 51,024,582.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3350.2 Mb50.4 Mb50.6 Mb50.8 Mb51 MbTTLL8: 50,018,575–50,058,298, reverse strandTTLL8MLC1: 50,059,391–50,085,969, reverse strandMLC1MOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandTUBGCP6: 50,217,621–50,245,033, reverse strandHDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandMAPK11PLXNB2: 50,274,976–50,307,695, reverse strandPLXNB2DENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2SBF1: 50,443,219–50,483,923, reverse strandSBF1ADM2: 50,481,516–50,486,440, forward strandMIOX: 50,486,784–50,490,648, forward strandLMF2: 50,502,947–50,507,751, reverse strandNCAPH2: 50,508,127–50,524,781, forward strandNCAPH2SCO2: 50,523,568–50,525,598, reverse strandSCO2TYMP: 50,525,752–50,530,326, reverse strandTYMPCIMAP1B: 50,529,710–50,532,590, reverse strandCIMAP1BKLHDC7B: 50,545,899–50,551,023, forward strandSYCE3: 50,551,109–50,562,954, reverse strandCPT1B: 50,567,624–50,578,681, reverse strandCPT1BCHKB-CPT1B: 50,568,869–50,582,965, reverse strandCHKB: 50,578,959–50,601,455, reverse strandCHKBMAPK8IP2: 50,600,659–50,613,981, forward strandMAPK8IP2ARSA: 50,622,754–50,628,177, reverse strandARSASHANK3: 50,674,408–50,733,212, forward strandSHANK3ACR: 50,738,196–50,745,441, forward strandACRRABL2B: 50,767,491–50,783,760, reverse strandRABL2BDiagram of SCO2: 2 exons on the reverse strand of chromosome 22Exon 2: 33 known disease-causing sitesExon 2: 50,523,568–50,524,424, 857 basesExon 1: 50,525,472–50,525,598, 127 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 1 kb of the gene's 2 kb; 801 of those bases code for the protein.

    How a genome test reads SCO2

    33

    positions in SCO2 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 2 kb of SCO2, introns included, not only the 1 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.). SCO2 gene: synthesis of cytochrome C oxidase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/sco2

    Vancouver

    Dante Labs. SCO2 gene: synthesis of cytochrome C oxidase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sco2

    One test. A lifetime of answers.

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

    Get my Genome Test