Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

MDH2

malate dehydrogenase 2

Summary

Cytogenetic location
7q11.23
Coordinates
Chromosome 7: 76,048,106–76,067,508 (GRCh38)
Exons
9 exons across 19.4 kb
Protein
338 amino acids
MANE Select transcript
ENST00000315758.10NM_005918.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 3 GenCC submitters rate it definitive or strong

    How MDH2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 7, with a bracket where MDH2 sits. MDH2 and 15 genes near it on chromosome 7, from 75,557,807 to 76,557,806.Chromosome 77q11.23p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.375.6 Mb75.8 Mb76 Mb76.2 Mb76.4 MbHIP1: 75,533,298–75,739,061, reverse strandHIP1CCL26: 75,769,533–75,789,896, reverse strandCCL26CCL24: 75,810,825–75,823,943, reverse strandCCL24RHBDD2: 75,842,602–75,890,056, forward strandRHBDD2POR: 75,899,200–75,986,855, forward strandPORTMEM120A: 75,973,304–75,994,669, reverse strandTMEM120ASTYXL1: 75,996,315–76,048,809, reverse strandSTYXL1MDH2: 76,048,106–76,067,508, forward strandMDH2SRRM3: 76,201,864–76,287,288, forward strandSRRM3HSPB1: 76,302,666–76,305,813, forward strandHSPB1YWHAG: 76,326,799–76,359,022, reverse strandYWHAGSSC4D: 76,389,017–76,409,744, reverse strandSSC4DZP3: 76,397,497–76,442,071, forward strandZP3DTX2: 76,461,656–76,507,223, forward strandDTX2UPK3B: 76,510,353–76,532,774, forward strandUPK3BSPDYE16: 76,531,313–76,543,297, reverse strandSPDYE16Diagram of MDH2: 9 exons on the forward strand of chromosome 7Exon 2: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 8: 3 known disease-causing sitesExon 1: 76,048,106–76,048,226, 121 basesExon 2: 76,054,830–76,054,998, 169 basesExon 3: 76,057,410–76,057,493, 84 basesExon 4: 76,057,969–76,058,078, 110 basesExon 5: 76,060,373–76,060,498, 126 basesExon 6: 76,063,515–76,063,592, 78 basesExon 7: 76,064,339–76,064,438, 100 basesExon 8: 76,064,802–76,064,953, 152 basesExon 9: 76,066,279–76,067,508, 1,230 bases1234567895′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 2.2 kb of the gene's 19.4 kb; 1,017 of those bases code for the protein.

    Sequencing MDH2

    6

    positions in MDH2 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 19.4 kb of MDH2, introns included, not only the 2.2 kb of exons.

    Genes linked to the same conditions

    Traits linked to MDH2

    The Human Phenotype Ontology lists these as features of the rare conditions MDH2 can cause. Each trait's page lists the other genes linked to it.

    External links

    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 2026-10-17: 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 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). MDH2 gene: malate dehydrogenase 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/mdh2

    Vancouver

    Dante Labs. MDH2 gene: malate dehydrogenase 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mdh2

    One test. A lifetime of answers.

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

    Get my Genome Test