DHH (desert hedgehog signaling molecule)

2008-12-01  

Identity

HGNC
DHH
LOCATION
12q13.12
LOCUSID
50846
ALIAS
GDMN,GDXYM,HHG-3,SRXY7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 50846
MIM: 605423
HGNC: 2865
Ensembl: ENSG00000139549

Variants:

dbSNP: 50846
ClinVar: 50846
TCGA: ENSG00000139549
COSMIC: DHH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139549ENST00000649637O43323

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Hedgehog signalingKEGGhsa_M00678
Hedgehog signalingKEGGM00678
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Hh mutants abrogate ligand secretionREACTOMER-HSA-5387390
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346
Release of Hh-Np from the secreting cellREACTOMER-HSA-5362798
Hedgehog 'on' stateREACTOMER-HSA-5632684
Ligand-receptor interactionsREACTOMER-HSA-5632681
Activation of SMOREACTOMER-HSA-5635838
HHAT G278V abrogates palmitoylation of Hh-NpREACTOMER-HSA-5658034

References

Pubmed IDYearTitleCitations
378645172023PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway.0
378645172023PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway.0
337129942021Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.5
338648852021Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium.0
337129942021Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility.5
338648852021Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium.0
325041212020DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.1
325041212020DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.1
310189982019Functional 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
31240586201946,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.5
310189982019Functional 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
31240586201946,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.5
302985352018In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.5
303551592018Restoring Endothelial Function by Targeting Desert Hedgehog Downstream of Klf2 Improves Critical Limb Ischemia in Adults.15
302985352018In 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/js/img/case-report-explorer/