Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DHH contributors: mct - updated : 15-10-2018
HGNC name desert hedgehog homolog (Drosophila)
HGNC id 2865
Corresponding disease
GDMN 46, XY gonadal dysgenesis, with/without minifascicular neuropathy
SRXY7 46XY sex reversal 7
Location 12q13.12      Physical location : 49.483.207 - 49.488.602
Synonym name desert hedgehog, murine homolog
Synonym symbol(s) HHG-3, MGC35145, GDXYM
DNA
TYPE functioning gene
STRUCTURE 8.16 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
LOC121270 12q13.12 similar to olfactory receptor MOR122-1 FLJ20436 12q13.12 hypothetical protein FLJ20436 CCNT1 12q13.1 cyclin T1 LOC255411 12q13.12 hypothetical LOC255411 ADCY6 12q12-q13 adenylate cyclase 6 LOC390314 12 similar to Protein C20orf27 CACNB3 12q13 calcium channel, voltage-dependent, beta 3 subunit DDX23 12q13.12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 RHO6 12q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 NYD-SP28 12q13.12 NYD-SP28 protein FKBP11 12q13.2 FK506 binding protein 11, 19 kDa ARF3 12q13.1 ADP-ribosylation factor 3 WNT10B 12q13.1 wingless-type MMTV integration site family, member 10B WNT1 12q13 wingless-type MMTV integration site family, member 1 DDN 12q13.12 dendrin PRKAG1 12q12-q14 protein kinase, AMP-activated, gamma 1 non-catalytic subunit MLL2 12q12-q13 myeloid/lymphoid or mixed-lineage leukemia 2 RHEBL1 12q13.12 Ras homolog enriched in brain like 1 DHH 12q12-q13.1 desert hedgehog homolog (Drosophila) LIMR 12q13.12 lipocalin-interacting membrane receptor K-ALPHA-1 12q12-q14.3 lipocalin-interacting membrane receptor TUBA3 12q12-12q14.3 lipocalin-interacting membrane receptor TUBA6 12q12-q14 tubulin alpha 6 PRPH 12q12-q13 peripherin TROAP 12p11.1 trophinin associated protein (tastin) LOC338761 12q13.12 similar to C1q-related factor precursor FLJ13236 12q13.12 hypothetical protein FLJ13236 SPATS2 12q13.12 spermatogenesis associated, serine-rich 2
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 4701 - 396 - 2000 10773676
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus    
Reproductivefemale systemuteruscervix  
 male systemtestis    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
NervousSchawnn cell Homo sapiens
ReproductiveSertoli cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period
Text development, heart
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
six cadherin domains
HOMOLOGY
interspecies homolog to murine Dhh
homolog to desert hedgehog Drosophila dhh
Homologene
FAMILY hedgehog family
CATEGORY regulatory , signaling
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
basic FUNCTION
  • regulating the cardiac development and in the developing of Schwann cells of the peripheral nervous system
  • playing a key role in the differentiation of male gonads
  • combinatorial expression of the paracrine factor DHH and nuclear transcription factor SF1 is required for Leydig cell development
  • is essential for testis development and Schwann cell function
  • DHH promotes peripheral nerve survival in the ischemic muscle and, by doing so, maintains the pool of nerve-derived proangiogenic factors
  • controls the formation of the nerve perineurium during development and is a key component of Schwann cells that ensures peripheral nerve survival
  • pivotal role for DHH in maintaining myelination
  • critical role of DHH in maintaining blood nerve barrier integrity, demonstrating time that endothelial dysfunction is sufficient to induce neuropathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular
    PATHWAY
    metabolism
    signaling
  • DHH signaling plays an essential role in the normal development of the testis and in the process of spermatogenesis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GLI family in mediating the carcinogenic effect of hedgehog pathway activation
  • SMO (essential component of HH signaling)
  • Sertoli cells coordinate DHH-dependent spermatogenesis events via PTCH1 and SMO prior to the first meiotic division and in postmeiotic (haploid) cells, particularly during the first half of spermiogenesis
  • SOX10 activates DHH expression in Schwann cells via an enhancer that is located in intron 1 of the DHH gene
  • cell & other
    REGULATION
    activated by SOX10
    ASSOCIATED DISORDERS
    corresponding disease(s) GDMN , SRXY7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    dysgenetic testis, female external genitalia, presence of mullerian structures
    tumoral fusion      
    DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice lacking both Dhh and Ihh had loss of normal ovarian function
  • in Dhh-deficient mice, Dhh negatively regulates multiple stages of erythrocyte differentiation