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DHH Gene

protein-coding   GIFtS: 63
GCID: GC12M049483

Desert Hedgehog

(Previous name: desert hedgehog (Drosophila) homolog)
  See DHH-related diseases
at
MalaCards
 

Aliases
for DHH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Desert Hedgehog1 2     Desert Hedgehog (Drosophila) Homolog1
HHG-32 3     Desert Hedgehog Homolog2
GDXYM2 5     Desert Hedgehog Protein2
SRXY72 5     Mutant Desert Hedgehog2

External Ids:    HGNC: 28651   Entrez Gene: 508462   Ensembl: ENSG000001395497   OMIM: 6054235   UniProtKB: O433233   

Export aliases for DHH gene to outside databases

Previous GC identifers: GC12P049326 GC12M049199 GC12M047769 GC12M046514


Summaries
for DHH gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DHH Gene:
This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play
an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is
autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the
C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently
attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface
and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated
with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved
in both male gonadal differentiation and perineurial development. (provided by RefSeq, May 2010)

GeneCards Summary for DHH Gene:
DHH (desert hedgehog) is a protein-coding gene. Diseases associated with DHH include 46xy sex reversal 7, and 46xy partial gonadal dysgenesis, with minifascicular neuropathy. GO annotations related to this gene include patched binding and calcium ion binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot: DHH_HUMAN, O43323
Function: Intercellular signal essential for a variety of patterning events during development. May function as a
spermatocyte survival factor in the testes. Essential for testes development

Gene Wiki entry for DHH (Desert hedgehog protein) Gene


Genomic Views
for DHH gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHH gene promoter:
         C/EBPbeta   Pax-5   FOXD1   Egr-4   FOXL1   Roaz   Max   Zic1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DHH promoter sequence
   Search Chromatin IP Primers for DHH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.1   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q13.1

DHH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHH gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049483:  view genomic region     (about GC identifiers)

Start:
 49,483,204 bp from pter      End:
 49,488,602 bp from pter
Size:
 5,399 bases      Orientation:
 minus strand

Proteins
for DHH gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DHH_HUMAN, O43323 (See protein sequence)
Recommended Name: Desert hedgehog protein precursor  
Size: 396 amino acids; 43577 Da
Subunit: Interacts with BOC and CDON. Interacts with HHIP
5 PDB 3D structures from and Proteopedia for DHH:
2WFQ (3D)        2WFR (3D)        2WG3 (3D)        3N1G (3D)        3N1Q (3D)    
Secondary accessions: Q15794

Explore the universe of human proteins at neXtProt for DHH: NX_O43323

Explore proteomics data for DHH at MOPED

Post-translational modifications: 

  • The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities
    result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the
    C-terminal of the newly generated N-terminal fragment (N-product). This covalent modification appears to play an
    essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product
    is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By
    similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See DHH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066382.1  
    ENSEMBL proteins: 
     ENSP00000266991  
    Reactome Protein details: O43323

    DHH Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for DHH (Desert Hedgehog/Dhh)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for DHH
    GenScript Custom Purified and Recombinant Proteins Services for DHH
    Novus Biologicals DHH Proteins
    Novus Biologicals DHH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for DHH
    Cloud-Clone Corp. Proteins for DHH

         		 Search eBioscience for Proteins for DHH 

         		antibodies-online proteins for DHH (19 products) 

         		antibodies-online peptides for DHH

    DHH Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of DHH
    R&D Systems Antibodies for DHH (Desert Hedgehog/Dhh)
    OriGene Antibodies for DHH
    OriGene Custom Antibody Services for DHH
    Novus Biologicals DHH Antibodies
    Search for Antibodies for DHH at Abcam
    Cloud-Clone Corp. Antibodies for DHH
    ThermoFisher Antibodies for DHH
    antibodies-online antibodies for DHH (49 products) 

    DHH Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for DHH
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DHH
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DHH
    Cloud-Clone Corp. CLIAs for DHH
    Search eBioscience for ELISAs for DHH 
    antibodies-online kits for DHH (4 products) 

    Domains /
    Families
    for DHH gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 Selected InterPro protein domains (see all 6):
     IPR001657 Hedgehog
     IPR003586 Hint_dom_C
     IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom
     IPR000320 Hedgehog_signalling_dom
     IPR001767 Hint_dom

    Graphical View of Domain Structure for InterPro Entry O43323

    ProtoNet protein and cluster: O43323

    5 Blocks protein domains:
    IPB000320 Hedgehog amino-terminal signaling domain
    IPB001657 Sonic hedgehog protein signature
    IPB001767 Hedgehog protein
    IPB003586 Hedgehog/Intein hint domain
    IPB009045 Hedgehog/DD-peptidase


    UniProtKB/Swiss-Prot: DHH_HUMAN, O43323
    Domain: The desert hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is
    essential for protein-protein interactions mediated by this domain
    Similarity: Belongs to the hedgehog family


    Find genes that share domains with DHH           About GenesLikeMe


    Function
    for DHH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHH_HUMAN, O43323
    Function: Intercellular signal essential for a variety of patterning events during development. May function as a
    spermatocyte survival factor in the testes. Essential for testes development

         Genatlas biochemistry entry for DHH:
    desert hedgehog,murine homolog,expressed in developing heart,putatively involved in regulating the cardiac
    development

         Summary: 
    During embryonic development, DHH as signaling molecule is secreted from the following cells:
                
    Testis: Sertoli cells (Seminiferous Tubules)

    It affects the following cells:       fully expand
    Testis: Peritubular Myoid Cells (Testis Interstitium), Testicular Interstitial Cells (Testis Cord)      fully expand to see all 3 cells

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding IEA--
    GO:0005509calcium ion binding IDA19561611
    GO:0005515protein binding IPI19561611
    GO:0008233peptidase activity IEA--
    GO:0008270zinc ion binding IDA19561611
         
    Find genes that share ontologies with DHH           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DHH:
     Elongated cells 

         6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dhh):
     digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism  nervous system  other 
     reproductive system 

    Find genes that share phenotypes with DHH           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dhhtm1Amc for DHH

       genOway: Develop your customized and physiologically relevant rodent model for DHH

    miRNA
    Products:            		miRTarBase miRNAs that target DHH:
    hsa-mir-335-5p (MIRT017109)

    Block miRNA regulation of human, mouse, rat DHH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHH (see all 12):
    hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmid: DHH 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for DHH
    Predesigned siRNA for gene silencing in human, mouse, rat DHH

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for DHH

    Clone
    Products:             		 OriGene clones in human, mouse for DHH (see all 5)
    OriGene ORF clones in mouse, rat for DHH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DHH (NM_015336)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHH

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for DHH
    Browse ESI BIO Cell Lines and PureStem Progenitors for DHH 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH


    Localization
    for DHH gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    DHH_HUMAN, O43323: Desert hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side (By
    similarity). Note=The N-terminal peptide remains associated with the cell surface (By similarity)
    DHH_HUMAN, O43323: Desert hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The
    C-terminal peptide diffuses from the cell (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with DHH           About GenesLikeMe


    Pathways & Interactions
    for DHH gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DHH About   (see all 9)  
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway0.32
    		Hedgehog Pathway0.32
    2Signaling by GPCR
    		Signaling by GPCR0.90
    		Signal Transduction0.58
    3Activation of cAMP-Dependent PKA
    		Activation of PKA through GPCR0.71
    		PKA Signaling0.56
    4Peptide ligand-binding receptors
    		GPCR ligand binding0.71
    5ERK Signaling
    		Molecular Mechanisms of Cancer0.51


    Find genes that share SuperPaths with DHH           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for DHH
        Activation of PKA through GPCR
    PKA Signaling
    Molecular Mechanisms of Cancer
    Hedgehog Signaling in Mammals

    1 Tocris Bioscience Pathway for DHH
        Hedgehog Pathway

    2 BioSystems Pathways for DHH
        Hedgehog Signaling Pathway
    Signaling events mediated by the Hedgehog family

    1 Reactome Pathway for DHH
        Class B/2 (Secretin family receptors)


    1 Kegg Pathway  (Kegg details for DHH):
        Hedgehog signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DHH: 
              Hedgehog Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DHH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DHH (O433233 ENSP000002669914) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTCH1Q136353, ENSP000003323534I2D: score=3 STRING: ENSP00000332353
    HHIPQ96QV13, ENSP000002965754I2D: score=2 STRING: ENSP00000296575
    BMP4P126443, ENSP000002454514I2D: score=1 STRING: ENSP00000245451
    EBF3Q9H4W63, ENSP000003576374I2D: score=1 STRING: ENSP00000357637
    GPC5P783333, ENSP000003662674I2D: score=1 STRING: ENSP00000366267
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0007154cell communication ----
    GO:0007267cell-cell signaling IEA--
    GO:0007275multicellular organismal development ----
    GO:0007286spermatid development IEA--

    Find genes that share ontologies with DHH           About GenesLikeMe



    Drugs & Compounds
    for DHH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
    Selected ApexBio Compounds for DHH (see all 14)     About this table
    CompoundAction CAS #
    AY 9944 dihydrochlorideInhibitor of hedgehog (Hh) signaling[366-93-8]
    AZ 12080282 dihydrochlorideInhibitor of Hedgehog (Hh) signaling--
    Ciliobrevin AHedgehog (Hh) pathway antagonist[302803-72-1]
    CyclopamineSmoothened inhibitor, directly binds to Smoothened and blocks Hedgehog pathway[4449-51-8]
    GANT 58novel and potent Gli antagonist[64048-12-0]
    GANT61GLI antagonist,inhibits GLI1 and GLI2-induced transcription[500579-04-4]
    GDC-0449 (Vismodegib)Hedgehog antagonist [879085-55-9]
    HPI 1Hedgehog (Hh) signaling inhibitor. [599150-20-6]
    JervineInhibitor of Hedgehog signaling[469-59-0]
    JK 184Potent downstream hedgehog (Hh) signaling inhibitor[315703-52-7]

    Browse Tocris compounds for DHH



    Transcripts
    for DHH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DHH gene: 
    NM_021044.2  

    Unigene Cluster for DHH:

    Desert hedgehog
    Hs.524382  [show with all ESTs]
    Unigene Representative Sequence: HQ607678
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266991(uc001rtf.3)
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat DHH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DHH (see all 12):
    hsa-miR-623 hsa-miR-3163 hsa-miR-185* hsa-miR-3614-3p hsa-miR-4297 hsa-miR-1324 hsa-miR-340 hsa-miR-4282
    SwitchGear 3'UTR luciferase reporter plasmid: DHH 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for DHH
    Predesigned siRNA for gene silencing in human, mouse, rat DHH
    Clone
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    OriGene ORF clones in mouse, rat for DHH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DHH (NM_015336)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DHH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHH
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for DHH
    OriGene qSTAR qPCR primer pairs in human, mouse for DHH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHH
      QuantiTect SYBR Green Assays in human, mouse, rat DHH
      QuantiFast Probe-based Assays in human, mouse, rat DHH

    Additional mRNA sequence: 

    AK313360.1 BC033507.1 HQ607677.1 HQ607678.1 U59748.1 

    2 DOTS entries:

    DT.423467  DT.91788446 

    3 AceView cDNA sequences:

    BC033507 NM_021044 U59748 

    GeneLoc Exon Structure


    Expression
    for DHH gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    DHH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCATTAACAC
    DHH Expression
    About this image


    DHH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Sertoli cells Seminiferous Tubules
             Seminiferous Tubules
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Immature Schwann Cells Peripheral Nerve Domain
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Bone (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
    DHH Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    DHH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524382
        Pathway & Disease-focused RT2 Profiler PCR Arrays including DHH: 
              Hedgehog Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Stem Cells in human mouse rat

    Primer
    Products:    		OriGene qPCR primer pairs and template standards for DHH
    OriGene qSTAR qPCR primer pairs in human, mouse for DHH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DHH
    QuantiTect SYBR Green Assays in human, mouse, rat DHH
    QuantiFast Probe-based Assays in human, mouse, rat DHH
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH

    Orthologs
    for DHH gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for DHH gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dhh1 , 5 desert hedgehog1, 5 88.83(n)1
    97.34(a)1    		   15 (55.05 cM)5
    133631  NM_007857.41  NP_031883.11 
     988930315 
    lizard
    (Anolis carolinensis)    		 Reptilia DHH6
    		 desert hedgehog
    		 68(a)
    		 1 ↔ 1
    		 GL343198.1(2694519-2733148)
    African clawed frog
    (Xenopus laevis)    		 Amphibia dhh-A2 desert hedgehog homolog (Drosophila), hedgehog protein more 77.61(n)    U26350.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dhh6
    		 desert hedgehog
    		 46(a)
    		 1 ↔ 1
    		 23(27981229-27989699) ENSDARG00000037062
    fruit fly
    (Drosophila melanogaster)    		 Insecta hh3 progression of morphogenetic furrow
    (sensu Drosophila) more    		 49(a)   3 94E1   --


    ENSEMBL Gene Tree for DHH (if available)
    TreeFam Gene Tree for DHH (if available)

    Paralogs
    for DHH gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for DHH gene
    SHH2  IHH2  
    2 SIMAP similar genes for DHH using alignment to 3 protein entries:     DHH_HUMAN (see all proteins):
    IHH    SHH

    Find genes that share paralogs with DHH           About GenesLikeMe



    Genomic Variants
    for DHH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DHH (see all 157)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0548734
    		Complete pure gonadal dysgenesis 46,XY type (GDXYM)4--see VAR_0548732 L P mis40--------
    rs1110335891,2
    		Cpathogenic149317669(-) GTTGCC/TGGCGC 2 P L mis10--------
    rs1048943461,2
    		Cpathogenic149320972(-) ATCCAC/TGGCTC 2 T M mis10--------
    rs1473991571,2
    		--49315422(+) CAGGTG/TTCCCA 1 -- ds50010--------
    rs1396355921,2
    		--49315598(+) ACAGAA/GAAGAG 1 -- ds50010--------
    rs1832689731,2
    		C--49315682(+) GATGGA/GAGACG 1 -- ds50010--------
    rs1863960501,2
    		--49315725(+) GTGGGC/TTCTGT 1 -- ds50010--------
    rs1454667821,2
    		C--49316101(+) ATAGTC/TCTCTT 1 -- ut310--------
    rs1472616881,2
    		C--49316128(+) TCAGCC/GCTACC 1 -- ut310--------
    rs1899703121,2
    		--49316210(+) CTCCCC/GCTCCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DHH (49483204 - 49488602 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DHH: --
    Human Gene Mutation Database (HGMD): DHH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHH
    DNA2.0 Custom Variant and Variant Library Synthesis for DHH

    Disorders / Diseases
    for DHH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    TryGeneCards Plus    		 OMIM gene information: 605423   
    OMIM disorders: 607080  233420  
    UniProtKB/Swiss-Prot: DHH_HUMAN, O43323
  • Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM:607080]: Characterized by the
    presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct
    structures, and a variable degree of genital ambiguity. Note=The disease may be caused by mutations affecting the
    gene represented in this entry
  • Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]: Type of hypogonadism in which no
    functional gonads are present to induce puberty in an externally female person whose karyotype is then found to
    be XY. The gonads are found to be non-functional streaks. Note=The disease may be caused by mutations affecting
    the gene represented in this entry

    • 8 diseases for DHH:    
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    46xy sex reversal 7    46xy partial gonadal dysgenesis, with minifascicular neuropathy    dhh-related 46,xy dsd and 46,xy cgd    gonadal dysgenesis
    46,xy disorder of sex development and 46,xy complete gonadal dysgenesis    polyneuropathy    mixed gonadal dysgenesis    chronic lymphocytic leukemia

    1 inferred disease relationship from the University of Copenhagen DISEASES database for DHH:
    Gonadal dysgenesis

    Find genes that share disorders with DHH           About GenesLikeMe

    GeneTests: DHH
    GeneReviews: DHH

    Export disorders for DHH gene to outside databases

    Publications
    for DHH gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DHH gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with DHH)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (PubMed id 11017805)1, 2, 9 Umehara F....Osame M. (Am. J. Hum. Genet. 2000)
    2. Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP. (PubMed id 19561611)1, 2 Bishop B....Siebold C. (Nat. Struct. Mol. Biol. 2009)
    3. Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. (PubMed id 15356051)1, 2 Canto P.... Mendez J.P. (J. Clin. Endocrinol. Metab. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Assignment of desert hedgehog (DHH) to human chromosome bands 12q12--&gt;q13.1 by in situ hybridization. (PubMed id 10773676)1, 3 Tate G....Mitsuya T. (Cytogenet. Cell Genet. 2000)
    6. Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization. (PubMed id 10640830)1, 3 Kamisago M....Matsuoka R. (Cytogenet. Cell Genet. 1999)
    7. In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. (PubMed id 23786321)1 Castro J.J....Canto P. (DNA Cell Biol. 2013)
    8. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (Nat. Genet. 2012)
    9. Desert hedgehog links transcription factor Sox10 to perineurial development. (PubMed id 22514309)1 KA1spert M....Wegner M. (J. Neurosci. 2012)
    10. Developmental pathways in breast cancer and breast tumor-initiating cells: therapeutic implications. (PubMed id 22123293)1 Izrailit J. and Reedijk M. (Cancer Lett. 2012)

    External Searches for DHH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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    OMIM
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    Genome Databases showing DHH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 50846 HGNC: 2865 AceView: DHH Ensembl:ENSG00000139549 euGenes: HUgn50846
    ECgene: DHH Kegg: 50846 H-InvDB: DHH

    Other Databases showing DHH gene

    (According to HUGE)
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    TryGeneCards Plus    		   --

    Specialized Databases showing DHH gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DHH Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DHH gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    TryGeneCards Plus    		Patent Information for DHH gene:
    Search GeneIP for patents involving DHH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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