Identity
HGNC
LOCATION
12q13.12
LOCUSID
ALIAS
GDMN,GDXYM,HHG-3,SRXY7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 50846
MIM: 605423
HGNC: 2865
Ensembl: ENSG00000139549
Variants:
dbSNP: 50846
ClinVar: 50846
TCGA: ENSG00000139549
COSMIC: DHH
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000139549 | ENST00000649637 | O43323 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37864517 | 2023 | PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway. | 0 |
| 37864517 | 2023 | PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway. | 0 |
| 33712994 | 2021 | Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. | 5 |
| 33864885 | 2021 | Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium. | 0 |
| 33712994 | 2021 | Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility. | 5 |
| 33864885 | 2021 | Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium. | 0 |
| 32504121 | 2020 | DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation. | 1 |
| 32504121 | 2020 | DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation. | 1 |
| 31018998 | 2019 | Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. | 4 |
| 31240586 | 2019 | 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene. | 5 |
| 31018998 | 2019 | Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development. | 4 |
| 31240586 | 2019 | 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene. | 5 |
| 30298535 | 2018 | In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. | 5 |
| 30355159 | 2018 | Restoring Endothelial Function by Targeting Desert Hedgehog Downstream of Klf2 Improves Critical Limb Ischemia in Adults. | 15 |
| 30298535 | 2018 | In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis. | 5 |
Citation
Dessen P
DHH (desert hedgehog signaling molecule)
Atlas Genet Cytogenet Oncol Haematol. 2008-12-01
Online version: http://atlasgeneticsoncology.org/gene/50493/dhh-(desert-hedgehog-signaling-molecule)
