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Gene

HR

HR lysine demethylase and nuclear receptor corepressor

Summary

Cytogenetic location
8p21.3
Coordinates
Chromosome 8: 22,114,419–22,131,010 (GRCh38)
Exons
19 exons across 16.6 kb
Protein
1,189 amino acids
Inheritance
Autosomal recessive
Also known as
KDM3D, AU
Previous symbols
ALUNC
MANE Select transcript
ENST00000381418.9NM_005144.5
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

  • Hereditary Hypotrichosis, Woolly Hair and Monilethrix

    • Atrichia with papular lesionsAutosomal recessive

      Hair loss in early childhood that does not regrow, with small cysts on the skin.

      • 4 GenCC submitters rate it definitive or strong
    • Alopecia universalis congenitaAutosomal recessive

      Absence of scalp and body hair from birth or early childhood.

      • 1 GenCC submitter rates it definitive or strong
    • Hereditary hypotrichosis

      Sparse or absent scalp and body hair from childhood, including the LIPH- and LPAR6-related forms.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How HR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where HR sits. HR and 24 genes near it on chromosome 8, from 21,622,715 to 22,622,714.Chromosome 88p21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.321.8 Mb22 Mb22.2 Mb22.4 Mb22.6 MbGFRA2: 21,690,398–21,812,370, reverse strandGFRA2DOK2: 21,907,461–21,913,960, reverse strandDOK2XPO7: 21,919,545–22,006,585, forward strandXPO7NPM2: 22,024,081–22,036,897, forward strandNPM2FGF17: 22,042,388–22,048,809, forward strandFGF17DMTN: 22,048,995–22,082,527, forward strandDMTNFHIP2B: 22,089,139–22,104,911, forward strandNUDT18: 22,101,008–22,109,444, reverse strandNUDT18HR: 22,114,419–22,131,010, reverse strandHRHRURF: 22,130,458–22,131,010, reverse strandHRURFREEP4: 22,138,007–22,141,951, reverse strandREEP4LGI3: 22,146,824–22,157,084, reverse strandSFTPC: 22,156,913–22,164,479, forward strandBMP1: 22,164,899–22,212,326, forward strandBMP1PHYHIP: 22,219,703–22,232,376, reverse strandPHYHIPPOLR3D: 22,245,078–22,254,601, forward strandPOLR3DPIWIL2: 22,275,310–22,358,580, forward strandPIWIL2SLC39A14: 22,366,727–22,434,129, forward strandSLC39A14PPP3CC: 22,440,746–22,544,727, forward strandPPP3CCSORBS3: 22,544,986–22,575,788, forward strandSORBS3PDLIM2: 22,578,058–22,598,025, forward strandPDLIM2: 22,589,274–22,602,084, forward strandC8orf58: 22,599,588–22,604,271, forward strandC8orf58CCAR2: 22,604,629–22,620,964, forward strandBIN3: 22,610,290–22,669,148, reverse strandDiagram of HR: 19 exons on the reverse strand of chromosome 8Exon 18: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 19: 22,114,419–22,115,762, 1,344 basesExon 18: 22,116,300–22,116,428, 129 basesExon 17: 22,116,875–22,117,039, 165 basesExon 16: 22,118,950–22,119,065, 116 basesExon 15: 22,119,164–22,119,283, 120 basesExon 14: 22,119,760–22,119,890, 131 basesExon 13: 22,120,104–22,120,173, 70 basesExon 12: 22,120,342–22,120,507, 166 basesExon 11: 22,120,716–22,120,958, 243 basesExon 10: 22,121,065–22,121,228, 164 basesExon 9: 22,121,613–22,121,694, 82 basesExon 8: 22,122,493–22,122,608, 116 basesExon 7: 22,122,790–22,122,879, 90 basesExon 6: 22,123,649–22,123,813, 165 basesExon 5: 22,125,311–22,125,504, 194 basesExon 4: 22,125,582–22,125,732, 151 basesExon 3: 22,127,037–22,127,829, 793 basesExon 2: 22,128,559–22,129,210, 652 basesExon 1: 22,130,428–22,131,010, 583 bases191816141210864215′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 5.5 kb of the gene's 16.6 kb; 3,570 of those bases code for the protein.

How a genome test reads HR

10

positions in HR 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 16.6 kb of HR, introns included, not only the 5.5 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.). HR gene: HR lysine demethylase and nuclear receptor corepressor. Retrieved 17 October 2026, from https://dantelabs.com/genes/hr

Vancouver

Dante Labs. HR gene: HR lysine demethylase and nuclear receptor corepressor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/hr

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