HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DHH
desert hedgehog signaling molecule
Chromosome 12 Β· 12q13.12
NCBI Gene: 50846Ensembl: ENSG00000139549.4HGNC: HGNC:2865UniProt: O43323
39PubMed Papers
22Diseases
0Drugs
19Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
patched bindingcalcium ion bindingprotein bindingsmoothened signaling pathway46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome46,XY complete gonadal dysgenesis46,XY gonadal dysgenesis - motor and sensory neuropathygenetic disorder
✦AI Summary

DHH (desert hedgehog signaling molecule) encodes a morphogen that plays critical roles in development and tissue regeneration. DHH functions by binding to the PTCH1 receptor and activating smoothened (SMO) signaling to regulate target gene transcription 12. The protein is essential for normal testis development and spermatogenesis, specifically for formation of adult-type Leydig cells and development of peritubular cells and seminiferous tubules 3. DHH also orchestrates tissue regeneration through epithelial-mesenchymal feedback signaling, where neuroendocrine cells secrete DHH to elicit protective responses from mesenchymal cells in both airway and pancreatic tissues 4. Mutations in DHH cause severe reproductive disorders including 46,XY gonadal dysgenesis with minifascicular neuropathy and male infertility 35. The severity of phenotype correlates with mutation type, where mild mutations affect fertility while severe mutations result in complete gonadal dysgenesis 3. DHH's dual roles in development and regeneration make it clinically significant for understanding both congenital disorders of sexual development and potential therapeutic targets for tissue regeneration in diabetes and respiratory injuries 4.

Sources cited
1
DHH binds to PTCH1 receptor to activate SMO signaling
PMID: 11472839
2
DHH binding to PTCH1 activates transcription of target genes
PMID: 33063110
3
DHH is essential for testis development and mutations cause male infertility and gonadal dysgenesis
PMID: 33712994
4
DHH mutations cause 46,XY gonadal dysgenesis with minifascicular neuropathy
PMID: 34297505
5
DHH secreted from neuroendocrine cells orchestrates tissue regeneration through epithelial-mesenchymal feedback signaling
PMID: 40494346
Disease Associationsβ“˜22
46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeOpen Targets
0.69Moderate
46,XY complete gonadal dysgenesisOpen Targets
0.68Moderate
46,XY gonadal dysgenesis - motor and sensory neuropathyOpen Targets
0.64Moderate
genetic disorderOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.17Weak
mouth neoplasmOpen Targets
0.14Weak
disorder of sexual differentiationOpen Targets
0.12Weak
Genetic 46,XY disorder of sex developmentOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.10Suggestive
spermatogenic failure 57Open Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.09Suggestive
spermatogenic failure 25Open Targets
0.09Suggestive
spermatogenic failure 71Open Targets
0.09Suggestive
isochromosomy YpOpen Targets
0.09Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.09Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.08Suggestive
spermatogenic failure 73Open Targets
0.08Suggestive
spermatogenic failure 74Open Targets
0.08Suggestive
46,XY gonadal dysgenesis with minifascicular neuropathyUniProt
46,XY sex reversal 7UniProt
Pathogenic Variants19
NM_021044.4(DHH):c.734G>C (p.Arg245Pro)Likely pathogenic
Differences in sex development
β˜…β˜†β˜†β˜†2025β†’ Residue 245
NM_021044.4(DHH):c.680C>T (p.Ala227Val)Pathogenic
Differences in sex development
β˜…β˜†β˜†β˜†2025β†’ Residue 227
NM_021044.4(DHH):c.802A>G (p.Thr268Ala)Likely pathogenic
Differences in sex development
β˜…β˜†β˜†β˜†2025β†’ Residue 268
NM_021044.4(DHH):c.30del (p.Cys11fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 11
NM_021044.4(DHH):c.825dup (p.Ala276fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 276
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)Pathogenic
46,XY sex reversal 7
β˜…β˜†β˜†β˜†2022β†’ Residue 335
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg)Likely pathogenic
46,XY sex reversal 7
β˜…β˜†β˜†β˜†2016β†’ Residue 343
NM_021044.4(DHH):c.371G>A (p.Arg124Gln)Pathogenic
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
β˜…β˜†β˜†β˜†β†’ Residue 124
NM_021044.4(DHH):c.1011del (p.Asn337fs)Pathogenic
46,XY sex reversal 7
β˜…β˜†β˜†β˜†β†’ Residue 337
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter)Pathogenic
46,XY sex reversal 7
β˜…β˜†β˜†β˜†β†’ Residue 176
NM_021044.4(DHH):c.566-2A>GLikely pathogenic
DHH-related disorder
β˜†β˜†β˜†β˜†2024
NM_021044.4(DHH):c.304-572_492dupPathogenic
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
β˜†β˜†β˜†β˜†2020
NM_021044.4(DHH):c.519G>T (p.Trp173Cys)Pathogenic
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 173
NM_021044.4(DHH):c.554C>A (p.Ser185Ter)Pathogenic
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 185
NM_021044.4(DHH):c.1086del (p.Leu363fs)Pathogenic
46,XY sex reversal 7
β˜†β˜†β˜†β˜†2004β†’ Residue 363
NM_021044.4(DHH):c.485T>C (p.Leu162Pro)Pathogenic
46,XY sex reversal 7
β˜†β˜†β˜†β˜†2004β†’ Residue 162
NM_021044.4(DHH):c.2T>C (p.Met1Thr)Pathogenic
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
β˜†β˜†β˜†β˜†2000β†’ Residue 1
NM_021044.4(DHH):c.634G>A (p.Glu212Lys)Likely pathogenic
46,XY sex reversal 7
β˜†β˜†β˜†β˜†β†’ Residue 212
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter)Pathogenic
46,XY sex reversal 7
β˜†β˜†β˜†β˜†β†’ Residue 176
View on ClinVar β†—
Related Genes
SUFUProtein interaction100%LRP2Protein interaction100%BOCProtein interaction96%GAS1Protein interaction96%FGF9Protein interaction91%DMRT1Protein interaction90%
Tissue Expression6 tissues
Heart
100%
Lung
38%
Ovary
25%
Liver
14%
Bone Marrow
5%
Brain
5%
Gene Interaction Network
Click a node to explore
DHHSUFULRP2BOCGAS1FGF9DMRT1
PROTEIN STRUCTURE
Preparing viewer…
PDB2WFQ Β· 1.85 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.66 [0.44–1.00]
RankingsWhere DHH stands among ~20K protein-coding genes
  • #10,304of 20,598
    Most Researched39
  • #2,253of 5,498
    Most Pathogenic Variants19
  • #9,644of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedDHH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Neuroendocrine cells orchestrate regeneration through Desert hedgehog signaling.
PMID: 40494346
Cell Β· 2025
1.00
2
Morphological Awareness and DHH Students' Reading-Related Abilities: A Meta-Analysis of Correlations.
PMID: 37474585
J Deaf Stud Deaf Educ Β· 2023
0.90
3
A Silenced Population.
PMID: 28793819
Crisis Β· 2017
0.80
4
Comparative and evolutionary analysis of the reptilian hedgehog gene family (
PMID: 31531274
PeerJ Β· 2019
0.70
5
Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.
PMID: 33712994
J Assist Reprod Genet Β· 2021
0.60