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Gene

HDAC8

histone deacetylase 8

Summary

Cytogenetic location
Xq13.1
Coordinates
Chromosome X: 72,329,516–72,572,843 (GRCh38)
Exons
11 exons across 243.3 kb
Protein
377 amino acids
Also known as
RPD3, KDAC8
Previous symbols
HDACL1, WTS, MRXS6
MANE Select transcript
ENST00000373573.9NM_018486.3
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 report relevant to this gene

  • Cornelia de Lange Syndrome

    • A developmental disorder caused by variants in NIPBL, SMC1A, SMC3, RAD21, HDAC8 or BRD4, with a wide range of severity.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides monitoring for associated problems such as reflux, heart defects, hearing and vision issues.

How HDAC8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where HDAC8 sits. HDAC8 and 14 genes near it on chromosome X, from 71,951,180 to 72,951,179.Chromosome XXq13.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2872 Mb72.2 Mb72.4 Mb72.6 Mb72.8 MbNHSL2: 71,910,834–72,161,750, forward strandNHSL2RTL5: 72,127,110–72,131,915, reverse strandRTL5PIN4: 72,181,353–72,302,926, forward strandPIN4ERCC6L: 72,201,871–72,239,041, reverse strandERCC6LRPS4X: 72,255,661–72,277,344, reverse strandRPS4XCITED1: 72,301,638–72,309,652, reverse strandCITED1: 72,301,691–72,572,843, reverse strandHDAC8: 72,329,516–72,572,843, reverse strandHDAC8PHKA1: 72,578,814–72,714,332, reverse strandPHKA1DMRTC1B: 72,776,874–72,848,803, forward strandDMRTC1BFAM236B: 72,781,858–72,782,798, reverse strandFAM236BFAM236D: 72,807,425–72,808,210, reverse strandFAM236DDMRTC1: 72,872,025–72,943,837, reverse strandDMRTC1FAM236C: 72,912,615–72,913,401, forward strandFAM236CFAM236A: 72,938,163–72,938,958, forward strandFAM236ADiagram of HDAC8: 11 exons on the reverse strand of chromosome XExon 11: 1 known disease-causing siteExon 10: 3 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 9 known disease-causing sitesExon 7: 1 known disease-causing siteExon 6: 4 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 11: 72,329,516–72,330,076, 561 basesExon 10: 72,351,733–72,351,838, 106 basesExon 9: 72,462,004–72,462,098, 95 basesExon 8: 72,464,559–72,464,731, 173 basesExon 7: 72,488,933–72,489,041, 109 basesExon 6: 72,490,929–72,491,006, 78 basesExon 5: 72,495,156–72,495,268, 113 basesExon 4: 72,567,889–72,568,030, 142 basesExon 3: 72,568,754–72,568,884, 131 basesExon 2: 72,572,057–72,572,109, 53 basesExon 1: 72,572,651–72,572,843, 193 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 1.8 kb of the gene's 243.3 kb; 1,134 of those bases code for the protein.

How a genome test reads HDAC8

57

positions in HDAC8 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 243.3 kb of HDAC8, introns included, not only the 1.8 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.). HDAC8 gene: histone deacetylase 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/hdac8

Vancouver

Dante Labs. HDAC8 gene: histone deacetylase 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hdac8

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