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Gene

DHH

desert hedgehog signaling molecule

Summary

Cytogenetic location
12q13.12
Coordinates
Chromosome 12: 49,086,656–49,094,801 (GRCh38)
Exons
3 exons across 8.1 kb
Protein
396 amino acids
Inheritance
Autosomal dominant
Also known as
HHG-3, MGC35145
MANE Select transcript
ENST00000649637.2NM_021044.4
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 reports relevant to this gene

  • 46,XY Differences of Sex Development and Gonadal Dysgenesis

    • 46,XY complete gonadal dysgenesis (Swyer syndrome)

      A condition in which people with XY chromosomes have undeveloped streak gonads and a female appearance, caused by variants in SRY, NR5A1, MAP3K1, DHH and other genes.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Streak gonads carry a high risk of gonadoblastoma, so removal is usually recommended, and hormone replacement is needed for puberty.

    • 46,XY differences of sex development

      Conditions in people with XY chromosomes in which gonadal or genital development is atypical, caused by variants in genes such as SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 and LHCGR.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis informs hormone treatment, fertility counselling and, where dysgenetic gonads carry Y material, assessment of gonadal tumour risk.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How DHH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 12, with a bracket where DHH sits. DHH and 31 genes near it on chromosome 12, from 48,590,729 to 49,590,728.Chromosome 1212q13.12p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3348.6 Mb48.8 Mb49 Mb49.2 Mb49.4 MbKANSL2: 48,653,211–48,682,265, reverse strandKANSL2CCNT1: 48,687,601–48,716,998, reverse strandCCNT1SPMIP11: 48,727,435–48,765,790, forward strandSPMIP11ADCY6: 48,766,191–48,789,906, reverse strandADCY6CACNB3: 48,813,794–48,828,942, forward strandCACNB3DDX23: 48,829,756–48,852,842, reverse strandDDX23RND1: 48,857,134–48,865,870, reverse strandRND1ARF3: 48,903,141–48,957,531, reverse strandARF3: 48,903,503–48,957,365, reverse strandDRC2: 48,904,105–48,931,840, forward strandDRC2FKBP11: 48,921,518–48,927,909, reverse strandFKBP11WNT10B: 48,965,185–48,972,669, reverse strandWNT1: 48,978,322–48,982,620, forward strandWNT1DDN: 48,995,149–48,999,375, reverse strandDDNPRKAG1: 49,002,272–49,018,820, reverse strandPRKAG1: 49,002,274–49,024,075, reverse strandKMT2D: 49,018,975–49,060,794, reverse strandKMT2DRHEBL1: 49,064,675–49,070,127, reverse strandRHEBL1DHH: 49,086,656–49,094,801, reverse strandDHHLMBR1L: 49,096,550–49,110,900, reverse strandLMBR1LTUBA1B: 49,127,780–49,131,398, reverse strandTUBA1BTUBA1A: 49,184,146–49,189,324, reverse strandTUBA1ATUBA1C: 49,188,736–49,274,600, forward strandTUBA1CPRPH: 49,295,141–49,298,686, forward strandPRPHTROAP: 49,323,165–49,331,735, forward strandTROAPC1QL4: 49,332,409–49,337,227, reverse strandC1QL4DNAJC22: 49,345,607–49,357,546, forward strandDNAJC22SPATS2: 49,366,240–49,528,438, forward strandSPATS2KCNH3: 49,539,020–49,558,346, forward strandKCNH3MCRS1: 49,556,544–49,568,150, reverse strandMCRS1PRPF40B: 49,568,218–49,644,666, forward strandPRPF40BFAM186B: 49,582,885–49,605,639, reverse strandFAM186BDiagram of DHH: 3 exons on the reverse strand of chromosome 12Exon 3: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 49,086,656–49,090,484, 3,829 basesExon 2: 49,091,128–49,091,389, 262 basesExon 1: 49,094,210–49,094,801, 592 bases3215′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 4.7 kb of the gene's 8.1 kb; 1,191 of those bases code for the protein.

How a genome test reads DHH

5

positions in DHH 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 8.1 kb of DHH, introns included, not only the 4.7 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.). DHH gene: desert hedgehog signaling molecule. Retrieved 16 October 2026, from https://dantelabs.com/genes/dhh

Vancouver

Dante Labs. DHH gene: desert hedgehog signaling molecule [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dhh

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