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Gene

CHD2

chromodomain helicase DNA binding protein 2

Summary

Cytogenetic location
15q26.1
Coordinates
Chromosome 15: 92,900,324–93,027,996 (GRCh38)
Exons
39 exons across 127.7 kb
Protein
1,828 amino acids
Also known as
FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200
MANE Select transcript
ENST00000394196.9NM_001271.4
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

    • 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 CHD2 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 CHD2 sits. CHD2 and 3 genes near it on chromosome 15, from 92,464,160 to 93,464,159.Chromosome 1515q26.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.392.6 Mb92.8 Mb93 Mb93.2 Mb93.4 MbST8SIA2: 92,393,844–92,468,728, forward strandST8SIA2FAM174B: 92,617,442–92,809,884, reverse strandFAM174BCHD2: 92,900,324–93,027,996, forward strandCHD2RGMA: 93,035,271–93,089,290, reverse strandRGMADiagram of CHD2: 39 exons on the forward strand of chromosome 15Exon 2: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 6 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 10: 9 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 11 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 14 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 19: 5 known disease-causing sitesExon 20: 4 known disease-causing sitesExon 21: 17 known disease-causing sitesExon 22: 17 known disease-causing sitesExon 23: 3 known disease-causing sitesExon 24: 2 known disease-causing sitesExon 25: 12 known disease-causing sitesExon 26: 9 known disease-causing sitesExon 27: 3 known disease-causing sitesExon 28: 3 known disease-causing sitesExon 29: 5 known disease-causing sitesExon 30: 6 known disease-causing sitesExon 31: 5 known disease-causing sitesExon 32: 3 known disease-causing sitesExon 33: 4 known disease-causing sitesExon 34: 2 known disease-causing sitesExon 35: 6 known disease-causing sitesExon 36: 4 known disease-causing sitesExon 37: 6 known disease-causing sitesExon 38: 14 known disease-causing sitesExon 1: 92,900,324–92,900,824, 501 basesExon 2: 92,901,167–92,901,299, 133 basesExon 3: 92,924,321–92,924,552, 232 basesExon 4: 92,927,244–92,927,330, 87 basesExon 5: 92,929,030–92,929,091, 62 basesExon 6: 92,937,518–92,937,625, 108 basesExon 7: 92,939,578–92,939,718, 141 basesExon 8: 92,941,822–92,941,955, 134 basesExon 9: 92,942,843–92,943,068, 226 basesExon 10: 92,944,415–92,944,515, 101 basesExon 11: 92,945,821–92,945,865, 45 basesExon 12: 92,946,038–92,946,216, 179 basesExon 13: 92,948,952–92,949,076, 125 basesExon 14: 92,953,357–92,953,573, 217 basesExon 15: 92,955,423–92,955,512, 90 basesExon 16: 92,956,459–92,956,649, 191 basesExon 17: 92,967,325–92,967,513, 189 basesExon 18: 92,971,765–92,971,927, 163 basesExon 19: 92,972,265–92,972,417, 153 basesExon 20: 92,974,879–92,974,950, 72 basesExon 21: 92,978,234–92,978,383, 150 basesExon 22: 92,979,135–92,979,283, 149 basesExon 23: 92,980,815–92,980,911, 97 basesExon 24: 92,981,365–92,981,457, 93 basesExon 25: 92,984,330–92,984,500, 171 basesExon 26: 92,985,498–92,985,673, 176 basesExon 27: 92,991,476–92,991,517, 42 basesExon 28: 92,992,859–92,992,998, 140 basesExon 29: 92,996,957–92,997,095, 139 basesExon 30: 92,997,253–92,997,403, 151 basesExon 31: 92,998,499–92,998,621, 123 basesExon 32: 93,000,512–93,000,640, 129 basesExon 33: 93,002,177–93,002,317, 141 basesExon 34: 93,004,617–93,004,751, 135 basesExon 35: 93,009,145–93,009,323, 179 basesExon 36: 93,012,345–93,012,444, 100 basesExon 37: 93,014,696–93,014,909, 214 basesExon 38: 93,020,012–93,020,258, 247 basesExon 39: 93,024,372–93,027,996, 3,625 bases15101520253035395′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 9.4 kb of the gene's 127.7 kb; 5,487 of those bases code for the protein.

    How a genome test reads CHD2

    257

    positions in CHD2 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 127.7 kb of CHD2, introns included, not only the 9.4 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.). CHD2 gene: chromodomain helicase DNA binding protein 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/chd2

    Vancouver

    Dante Labs. CHD2 gene: chromodomain helicase DNA binding protein 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chd2

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