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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DHH Gene

protein-coding   GIFtS: 63
GCID: GC12M049483

Desert Hedgehog

(Previous name: desert hedgehog (Drosophila) homolog)
  18 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)
About This Section
Aliases
Desert Hedgehog1 2     SRXY72
HHG-32 3     Desert Hedgehog Homolog2
Desert Hedgehog (Drosophila) Homolog1     Desert Hedgehog Protein2
GDXYM2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 dhh-related 46,xy dsd and 46,xy cgd, and 46xy partial gonadal dysgenesis, with minifascicular neuropathy, and among its related super-pathways are Hedgehog Pathway and Activation of cAMP-Dependent PKA. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DHH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: DHH_HUMAN, O43323 (See protein sequence)
Recommended Name: Desert hedgehog protein precursor  
Size: 396 amino acids; 43577 Da
Subcellular location: 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)
Subcellular location: Desert hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The
C-terminal peptide diffuses from the cell (By similarity)
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:

  • UniProtKB: 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)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43323

    • DHH Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DHH Protein Expression
    REFSEQ proteins: NP_066382.1  
    ENSEMBL proteins: 
     ENSP00000266991  

    Human Recombinant Protein Products for DHH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for DHH (Desert Hedgehog/Dhh)
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    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 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    DHH for ontologies           About GeneDecksing



    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
    GenScript Custom Superior Antibodies Services for DHH
    Novus Biologicals DHH Antibodies
    Abcam antibodies for DHH
    Cloud-Clone Corp. Antibodies for DHH 
    ThermoFisher Antibodies for DHH
    LSBio Antibodies in human, mouse, rat for DHH 

    Assay Products for DHH: 
    Browse Kits and Assays available from EMD Millipore
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    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

    Protein 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
    		 5/6 InterPro protein domains (see all 6):
     IPR001657 Hedgehog
     IPR003586 Hint_dom_C
     IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom
     IPR000320 Hedgehog_signaling_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
    Similarity: Belongs to the hedgehog family


    DHH for domains           About GeneDecksing


    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, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    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: Sertoli cells in Seminiferous Tubules It affects the following cells: Leydig Cells in Testis Interstitium, Peritubular Myoid Cells in Testis Cord (see all 3).

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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
         
    DHH for ontologies           About GeneDecksing


    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 

    DHH for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Dhhtm1Amc for DHH
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DHH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DHH

    miRNA
    Products:        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHH
    8/12 QIAGEN miScript miRNA 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:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DHH
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    Sirion Biotech Custom design and validation of potent shRNA sequences against DHH

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DHH
                         Customized adenovirus for potent knockdown of DHH

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for DHH (see all 6)
    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
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    Search LifeMap BioReagents cell lines for DHH
    Sirion Biotech Customized stable knockdown cell line services for DHH
                         Customized inducible knockdown cell line services for DHH
                         Customized stable overexpressing cell line services for DHH
                         Customized inducible overexpressing cell line services for DHH

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHH


    Pathways & Interactions
    for DHH gene

    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DHH About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway0.32
    		Hedgehog Pathway0.32
    2Activation of cAMP-Dependent PKA
    		Activation of PKA through GPCR0.71
    		PKA Signaling0.56
    3Rho Family GTPases
    		Molecular Mechanisms of Cancer0.51
    4Basal cell carcinoma
    		Hedgehog signaling pathway0.43
    5G-Beta Gamma Signaling
    		Hedgehog Signaling in Mammals0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of QIAGEN 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         Kegg Pathway  (Kegg details for DHH):
        Hedgehog signaling pathway


    DHH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DHH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/33 Interacting proteins for DHH (O433233 ENSP000002669914) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTCH1Q136353, ENSP000003323534I2D: score=3 STRING: ENSP00000332353
    HHIPQ96QV13, ENSP000002965754I2D: score=2 STRING: ENSP00000296575
    PTCH2Q9Y6C53, ENSP000003612664I2D: score=1 STRING: ENSP00000361266
    UBR5O950713, ENSP000002209594I2D: score=1 STRING: ENSP00000220959
    UGDHO607013, ENSP000003195014I2D: score=1 STRING: ENSP00000319501
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

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

    DHH for ontologies           About GeneDecksing



    Drugs & Compounds
    for DHH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DHH

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHH
    8/12 QIAGEN miScript miRNA 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:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DHH
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    Clone
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    OriGene ORF clones in mouse, rat for DHH
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHH
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DHH
      QIAGEN 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:

    NM_021044 BC033507 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DHH expression in normal human tissues (normalized intensities)      DHH embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Sertoli cells Seminiferous Tubules
             Seminiferous Tubules
     
     Bone (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)
             Chondrocytes Zeugopod Epiphyseal End
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus

    See DHH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DHH

    SOURCE GeneReport for Unigene cluster: Hs.524382
        SABiosciences Expression via Pathway-Focused 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
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    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
    This gene was present in the common ancestor of animals.

    Orthologs for DHH gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dhh1 , 5 desert hedgehog1, 5 88.38(n)1
    96.46(a)1    		   15 (55.05 cM)5
    133631  NM_007857.41  NP_031883.11 
     988930315 
    lizard
    (Anolis carolinensis)    		 Reptilia DHH6
    		 Hedgehog protein
    		 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)
    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
    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

    DHH for paralogs           About GeneDecksing



    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/157 SNPs in DHH are shown (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
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DHH
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    Disorders / Diseases
    for DHH gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DHH for disorders           About GeneDecksing

    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

    18 diseases for DHH:    About MalaCards
    dhh-related 46,xy dsd and 46,xy cgd    46xy partial gonadal dysgenesis, with minifascicular neuropathy    gonadal dysgenesis    46,xy partial gonadal dysgenesis
    disorders of sex development    46, xy disorders of sex development    mixed gonadal dysgenesis    polyneuropathy
    pseudohermaphroditism    b-cell chronic lymphocytic leukemia    hypogonadism    neurofibromatosis
    chronic lymphocytic leukemia    basal cell carcinoma    neuropathy    endotheliitis
    leukemia    breast cancer

    1 disease from the University of Copenhagen DISEASES database for DHH:
    Gonadal dysgenesis
    GeneTests: DHH
    46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis


    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)
    About This Section

    PubMed articles for DHH gene, integrated from 9 sources (see all 25):
    (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. (2000)
    2. 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. (2004)
    3. 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. (2004)
    4. Assignment of desert hedgehog (DHH) to human chromosome bands 12q12-->q13.1 by in situ hybridization. (PubMed id 10773676)1, 3 Tate G....Mitsuya T. (2000)
    5. 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. (1999)
    6. Genome-wide meta-analysis identifies 56 bone mineral d ensity loci and reveals 14 loci associated with risk of fracture. (PubMed id 22504420)1 Estrada K....Rivadeneira F. (2012)
    7. Desert hedgehog links transcription factor Sox10 to pe rineurial development. (PubMed id 22514309)1 Kuspert M....Wegner M. (2012)
    8. Developmental pathways in breast cancer and breast tum or-initiating cells: therapeutic implications. (PubMed id 22123293)1 Izrailit J. and Reedijk M. (2012)
    9. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    10. SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog. (PubMed id 21193222)1 Carbonnelle-Puscian A....Ortonne N. (2011)

    External Searches for DHH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DHH gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    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)
    About This Section
    		   --

    Specialized Databases showing DHH gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    		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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