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Gene

DMXL2

Dmx like 2

Summary

Cytogenetic location
15q21.2
Coordinates
Chromosome 15: 51,447,791–51,622,771 (GRCh38)
Exons
44 exons across 175 kb
Protein
3,058 amino acids
Also known as
RC3, KIAA0856, DFNA71
MANE Select transcript
ENST00000560891.6NM_001378457.1
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

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.

        • 2 GenCC submitters rate it definitive or strong

    How DMXL2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 15, with a bracket where DMXL2 sits. DMXL2 and 9 genes near it on chromosome 15, from 51,035,281 to 52,035,280.Chromosome 1515q21.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.351.2 Mb51.4 Mb51.6 Mb51.8 Mb52 MbTIPE3: 51,053,489–51,105,276, reverse strandTIPE3CYP19A1: 51,208,057–51,338,606, reverse strandCYP19A1GLDN: 51,341,498–51,408,005, forward strandGLDNDMXL2: 51,447,791–51,622,771, reverse strandDMXL2SCG3: 51,681,439–51,721,026, forward strandSCG3LYSMD2: 51,722,646–51,751,585, reverse strandLYSMD2TMOD2: 51,751,564–51,816,363, forward strandTMOD2TMOD3: 51,829,626–51,947,295, forward strandTMOD3LEO1: 51,937,788–51,971,922, reverse strandLEO1MAPK6: 51,952,106–52,067,375, forward strandMAPK6Diagram of DMXL2: 44 exons on the reverse strand of chromosome 15Exon 37: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 18: 2 known disease-causing sitesExon 17: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 44: 51,447,791–51,449,193, 1,403 basesExon 43: 51,450,129–51,450,346, 218 basesExon 42: 51,451,645–51,451,697, 53 basesExon 41: 51,453,550–51,453,641, 92 basesExon 40: 51,455,151–51,455,228, 78 basesExon 39: 51,456,066–51,456,193, 128 basesExon 38: 51,456,309–51,456,369, 61 basesExon 37: 51,457,328–51,457,466, 139 basesExon 36: 51,458,506–51,458,627, 122 basesExon 35: 51,458,709–51,458,795, 87 basesExon 34: 51,459,598–51,459,660, 63 basesExon 33: 51,463,379–51,463,496, 118 basesExon 32: 51,464,675–51,464,876, 202 basesExon 31: 51,465,566–51,465,651, 86 basesExon 30: 51,466,184–51,466,311, 128 basesExon 29: 51,471,223–51,471,401, 179 basesExon 28: 51,474,344–51,474,592, 249 basesExon 27: 51,476,589–51,476,719, 131 basesExon 26: 51,478,271–51,478,347, 77 basesExon 25: 51,479,948–51,480,139, 192 basesExon 24: 51,480,542–51,481,623, 1,082 basesExon 23: 51,486,073–51,486,337, 265 basesExon 22: 51,487,954–51,488,119, 166 basesExon 21: 51,488,548–51,488,645, 98 basesExon 20: 51,491,578–51,491,747, 170 basesExon 19: 51,495,024–51,495,134, 111 basesExon 18: 51,498,552–51,500,231, 1,680 basesExon 17: 51,502,806–51,503,033, 228 basesExon 16: 51,507,134–51,507,253, 120 basesExon 15: 51,514,442–51,514,559, 118 basesExon 14: 51,517,078–51,517,167, 90 basesExon 13: 51,535,663–51,535,784, 122 basesExon 12: 51,536,166–51,536,862, 697 basesExon 11: 51,537,488–51,537,759, 272 basesExon 10: 51,538,213–51,538,452, 240 basesExon 9: 51,542,333–51,542,507, 175 basesExon 8: 51,545,583–51,545,766, 184 basesExon 7: 51,547,230–51,547,408, 179 basesExon 6: 51,563,381–51,563,447, 67 basesExon 5: 51,564,125–51,564,260, 136 basesExon 4: 51,565,088–51,565,166, 79 basesExon 3: 51,568,487–51,568,558, 72 basesExon 2: 51,576,056–51,576,181, 126 basesExon 1: 51,622,459–51,622,771, 313 bases444030201015′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 10.6 kb of the gene's 175 kb; 9,177 of those bases code for the protein.

    How a genome test reads DMXL2

    9

    positions in DMXL2 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 175 kb of DMXL2, introns included, not only the 10.6 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.). DMXL2 gene: Dmx like 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/dmxl2

    Vancouver

    Dante Labs. DMXL2 gene: Dmx like 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dmxl2

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