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Gene

MEF2C

myocyte enhancer factor 2C

Summary

Cytogenetic location
5q14.3
Coordinates
Chromosome 5: 88,717,117–88,883,184 (GRCh38)
Exons
11 exons across 166.1 kb
Protein
473 amino acids
MANE Select transcript
ENST00000504921.7NM_002397.5
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

    How MEF2C is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 5, with a bracket where MEF2C sits. MEF2C and 0 genes near it on chromosome 5, from 88,300,151 to 89,300,150.Chromosome 55q14.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.388.4 Mb88.6 Mb88.8 Mb89 Mb89.2 MbMEF2C: 88,717,117–88,883,184, reverse strandMEF2CDiagram of MEF2C: 11 exons on the reverse strand of chromosome 5Exon 11: 2 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 4 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 24 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 11: 88,717,117–88,722,925, 5,809 basesExon 10: 88,728,493–88,728,628, 136 basesExon 9: 88,729,218–88,729,347, 130 basesExon 8: 88,730,211–88,730,234, 24 basesExon 7: 88,731,729–88,731,901, 173 basesExon 6: 88,749,070–88,749,117, 48 basesExon 5: 88,751,857–88,752,043, 187 basesExon 4: 88,761,185–88,761,328, 144 basesExon 3: 88,804,598–88,804,801, 204 basesExon 2: 88,823,735–88,823,930, 196 basesExon 1: 88,882,955–88,883,184, 230 bases1110515′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 7.3 kb of the gene's 166.1 kb; 1,422 of those bases code for the protein.

    How a genome test reads MEF2C

    75

    positions in MEF2C 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 166.1 kb of MEF2C, introns included, not only the 7.3 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.). MEF2C gene: myocyte enhancer factor 2C. Retrieved 17 October 2026, from https://dantelabs.com/genes/mef2c

    Vancouver

    Dante Labs. MEF2C gene: myocyte enhancer factor 2C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mef2c

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