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IHH Gene

protein-coding   GIFtS: 64
GCID: GC02M219919

Indian Hedgehog

(Previous names: Indian hedgehog (Drosophila) homolog, Indian hedgehog homolog...)
  See related diseases
at  

(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
Indian Hedgehog1 2     Indian Hedgehog Homolog (Drosophila)1
HHG-22 3     HHG22
BDA12 5     Indian Hedgehog Homolog2
Indian Hedgehog (Drosophila) Homolog1     Indian Hedgehog Protein2

External Ids:    HGNC: 59561   Entrez Gene: 35492   Ensembl: ENSG000001635017   OMIM: 6007265   UniProtKB: Q146233   

Export aliases for IHH gene to outside databases

Previous GC identifers: GC02M217935 GC02M218640 GC02M219883 GC02M220121 GC02M220122 GC02M219744 GC02M219628 GC02M211773


(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 IHH Gene:
This gene encodes a member of the hedgehog family of secreted signaling molecules. Hedgehog proteins are essential
regulators of a variety of developmental processes including growth, patterning and morphogenesis. The encoded
protein specifically plays a role in bone growth an differentiation. Mutations in this gene are the cause of
brachydactyly type A1 which is characterized by shortening or malformation of the phalanges. Mutations in this
gene are also the cause of acrocapitofemoral dysplasia. (provided by RefSeq, Feb 2010)

GeneCards Summary for IHH Gene:
IHH (indian hedgehog) is a protein-coding gene. Diseases associated with IHH include acrocapitofemoral dysplasia, and small intestinal sarcoma. GO annotations related to this gene include patched binding and calcium ion binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623
Function: Intercellular signal essential for a variety of patterning events during development. Binds to the
patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of
target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification
of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity)

Gene Wiki entry for IHH 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:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the IHH gene promoter:
         C/EBPbeta   STAT1   XBP-1   CUTL1   NF-AT   NF-AT4   NF-AT2   NF-AT3   Pax-4a   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIHH promoter sequence
   Search Chromatin IP Primers for IHH

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


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

Entrez Gene cytogenetic band: 2q33-q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q33-q35

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M219919:  view genomic region     (about GC identifiers)

Start:
219,919,142 bp from pter      End:
219,925,238 bp from pter
Size:
6,097 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623 (See protein sequence)
Recommended Name: Indian hedgehog protein precursor  
Size: 411 amino acids; 45251 Da
Subunit: Homooligomer (indian hedgehog protein N-product). Interacts with BOC and CDON. Interacts with PTCH1
Selected PDB 3D structures from and Proteopedia for IHH (see all 8):
3K7G (3D)        3K7H (3D)        3K7I (3D)        3K7J (3D)        3N1F (3D)        3N1M (3D)    
Secondary accessions: B9EGM5 O43322 Q8N4B9

Explore the universe of human proteins at neXtProt for IHH: NX_Q14623

Explore proteomics data for IHH 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). 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
  • Cholesterylation is required for N-product targeting to lipid rafts and multimerization1
  • Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity1
  • Glycosylation2 at Asn282

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

    REFSEQ proteins: NP_002172.2  
    ENSEMBL proteins: 
     ENSP00000295731  
    Reactome Protein details: Q14623

    IHH Human Recombinant Protein Products:

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    IHH Antibody Products:

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    R&D Systems Antibodies for IHH (Indian Hedgehog/Ihh)
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    Novus Biologicals IHH Antibodies
    Search for Antibodies for IHH at Abcam
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    LSBio Antibodies in human, mouse, rat for IHH

    IHH Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IHH
    Cloud-Clone Corp. CLIAs for IHH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR001657 Hedgehog
     IPR003586 Hint_dom_C
     IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom
     IPR000320 Hedgehog_signalling_dom
     IPR006141 Intein_splice_site

    Graphical View of Domain Structure for InterPro Entry Q14623

    ProtoNet protein and cluster: Q14623

    Selected Blocks protein domains (see all 6):
    IPB000320 Hedgehog amino-terminal signaling domain
    IPB001657 Sonic hedgehog protein signature
    IPB001767 Hedgehog protein
    IPB002375 Purine/pyrimidine phosphoribosyl transferase
    IPB003586 Hedgehog/Intein hint domain


    UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623
    Domain: The indian 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


    IHH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IHH_HUMAN, Q14623
    Function: Intercellular signal essential for a variety of patterning events during development. Binds to the
    patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of
    target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification
    of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity)

         Genatlas biochemistry entry for IHH:
    Drosophila segment polarity gene,Indian hedgehog,homolog,expressed in adult kidney and liver,also expressed in
    osteogenic cells through the mediaton of SOX9,required for the vertebrate skeletal development

         Summary: 
    During embryonic development, IHH as signaling molecule is secreted from the following cells:
          selected tissues (see all 3)      fully expand
    Bone: Prehypertrophic Chondrocytes (Caudal Endochondral Bones), Prehypertrophic Chondrocytes (Zeugopod Growth Plate)      fully expand to see all 14 cells
    Cartilage: Flattened Chondrocytes (Temporomandibular Joint), Chondrocytes (Temporomandibular Joint)      fully expand to see all 3 cells

    It affects the following cells:
          selected tissues (see all 5)      fully expand
    Bone: Endochondral Preosteoblasts (Autopod Epiphyseal End), Endochondral Osteoblasts (Stylopod Epiphyseal End)      fully expand to see all 40 cells
    Cartilage: Prechondrocytes (Rostral Synchondroses), Flattened Chondrocytes (Temporomandibular Joint)      fully expand to see all 11 cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding IPI--
    GO:0005509calcium ion binding IDA--
    GO:0008233peptidase activity IEA--
         
    IHH for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ihh):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  limbs/digits/tail  mortality/aging  muscle 
     nervous system  no phenotypic analysis  respiratory system  skeleton  vision/eye 

    IHH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ihhtm1Amc for IHH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IHH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IHH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IHH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IHH

    miRNA
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    Block miRNA regulation of human, mouse, rat IHH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IHH (see all 27):
    hsa-miR-4291 hsa-miR-644 hsa-miR-520d-5p hsa-miR-15a hsa-miR-503 hsa-miR-103a hsa-miR-424 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidIHH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for IHH
    Predesigned siRNA for gene silencing in human, mouse, rat IHH

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for IHH (see all 6)
    OriGene ORF clones in mouse, rat for IHH
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    GenScript: all cDNA clones in your preferred vector: IHH (NM_002181)
    Sino Biological Human cDNA Clone for IHH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IHH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IHH

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IHH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IHH_HUMAN, Q14623: Indian 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)
    IHH_HUMAN, Q14623: Indian hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The
    C-terminal peptide diffuses from the cell (By similarity)
    IHH_HUMAN, Q14623: Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    golgi apparatus3
    lysosome1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane IDA--
    GO:0031012extracellular matrix IEA--

    IHH for ontologies           About GeneDecksing


    (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 IHH About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Tocris Bioscience Pathway for IHH
        Hedgehog Pathway

    1 GeneGo (Thomson Reuters) Pathway for IHH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

    3 BioSystems Pathways for IHH
        Hedgehog Signaling Pathway
    Endochondral Ossification
    Signaling events mediated by the Hedgehog family


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


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


    IHH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IHH: 
              Osteogenesis in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IHH

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

    Selected Interacting proteins for IHH (Q146233 ENSP000002957314) via UniProtKB, MINT, STRING, and/or I2D (see all 126)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HHIPQ96QV13, ENSP000002965754I2D: score=2 STRING: ENSP00000296575
    PTCH1Q136353, ENSP000003323534I2D: score=2 STRING: ENSP00000332353
    PTCH2Q9Y6C53, ENSP000003612664I2D: score=1 STRING: ENSP00000361266
    BOCENSP000003475464STRING: ENSP00000347546
    CDONENSP000002635774STRING: ENSP00000263577
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP--
    GO:0001503ossification ----
    GO:0001569patterning of blood vessels IEA--
    GO:0001649osteoblast differentiation IEA--
    GO:0001701in utero embryonic development IEA--

    IHH for ontologies           About GeneDecksing



    (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
      Browse compounds at ApexBio 

    Browse Tocris compounds for IHH

    1 Novoseek inferred chemical compound relationship for IHH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cyclopamine 85.6 1 12967338 (1)



    IHH for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IHH gene: 
    NM_002181.3  

    Unigene Cluster for IHH:

    Indian hedgehog
    Hs.654504  [show with all ESTs]
    Unigene Representative Sequence: NM_002181
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000295731(uc002vjo.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IHH (see all 27):
    hsa-miR-4291 hsa-miR-644 hsa-miR-520d-5p hsa-miR-15a hsa-miR-503 hsa-miR-103a hsa-miR-424 hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidIHH 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat IHH
      QuantiFast Probe-based Assays in human, mouse, rat IHH

    Additional mRNA sequence: 

    BC034757.1 BC136587.1 BC136588.1 L38517.1 

    1 DOTS entry:

    DT.307021 

    Selected AceView cDNA sequences (see all 30):

    AI963227 AI919135 BQ185920 BE465790 AI683670 BQ184227 BC034757 AA328781 
    L38517 BE857677 BE869172 BG824238 AI560155 AA702847 BI517875 AI810983 
    AI248649 AI802733 AI732401 NM_002181 AA099746 AW572252 AI391656 AI015155 

    GeneLoc Exon Structure


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


    IHH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 29 entries
             Prehypertrophic Chondrocytes Endochondral Facial Bones
             Zeugopod Growth Plate
             Articular chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 28 entries
             Chondrocytes Temporomandibular Joint
             Articular chondrocyte-like cells
     
     Endoderm (Gastrulation Derivatives)
             Definitive Endoderm Cells Definitive Endoderm
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Hypoblast Cells Hypoblast
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
    IHH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IHH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654504

    UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623
    Tissue specificity: Expressed in embryonic lung, and in adult kidney and liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IHH: 
              Osteogenesis in human mouse rat
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cells in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IHH
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IHH

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for IHH gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ihh1 , 5 Indian hedgehog1, 5 88.89(n)1
    95.13(a)1
      1 (38.55 cM)5
    161471  NM_010544.21  NP_034674.11 
     749453195 
    chicken
    (Gallus gallus)
    Aves IHH1 Indian hedgehog 76.81(n)
    79.3(a)
      395801  NM_204957.1  NP_990288.1 
    lizard
    (Anolis carolinensis)
    Reptilia IHH6
    indian hedgehog
    74(a)
    1 ↔ 1
    1(88006532-88039983)
    African clawed frog
    (Xenopus laevis)
    Amphibia bhh-A-prov2 banded hedgehog protein 78.82(n)    U26404.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ihhb1 Indian hedgehog homolog b 64.72(n)
    66.31(a)
      30299  NM_131088.1  NP_571163.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hh6
    hedgehog
    39(a)
    1 → many
    3R(18953891-18967628)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IHH gene
    SHH2  DHH2  
    2 SIMAP similar genes for IHH using alignment to 2 protein entries:     IHH_HUMAN (see all proteins):
    SHH    DHH

    IHH for paralogs           About GeneDecksing



    (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 IHH (see all 173)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289363771,2,4
    Brachydactyly A1 (BDA1)4--see VAR_0159842 mis40--------
    VAR_0159824
    Brachydactyly A1 (BDA1)4--see VAR_0159822 E K mis40--------
    VAR_0159814
    Acrocapitofemoral dysplasia (ACFD)4--see VAR_0159812 P L mis40--------
    VAR_0159854
    Brachydactyly A1 (BDA1)4--see VAR_0159852 E K mis40--------
    VAR_0159864
    Acrocapitofemoral dysplasia (ACFD)4--see VAR_0159862 V A mis40--------
    VAR_0159834
    Brachydactyly A1 (BDA1)4--see VAR_0159832 D E mis40--------
    rs1219178571,2
    Cpathogenic1219306033(-) CTCCGC/TCAAGT 2 A V mis10--------
    rs1219178611,2
    Cpathogenic1219306141(-) CATCAC/TCACAT 2 T I mis10--------
    rs1219178531,2
    Cpathogenic1219306211(-) TGACCA/GAGGGC 2 K E mis10--------
    rs1219178541,2
    Cpathogenic1219308763(-) GCCGAA/CCGCCT 2 E D mis10--------

    HapMap Linkage Disequilibrium report for IHH (219919142 - 219925238 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IHH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821903CNV Loss20364138
    nsv821902CNV Gain20364138

    Human Gene Mutation Database (HGMD): IHH
    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing IHH:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing IHH
    DNA2.0 Custom Variant and Variant Library Synthesis for IHH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600726   
    OMIM disorders: 607778  112500  
    UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623
  • Brachydactyly A1 (BDA1) [MIM:112500]: A form of brachydactyly. Brachydactyly defines a group of inherited
    malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the
    metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused
    with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Acrocapitofemoral dysplasia (ACFD) [MIM:607778]: A disorder characterized by short stature of variable
    severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of
    the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with
    premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses
    are also present to a variable extent at the shoulders, knees and ankles. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for IHH (see all 37):    
    About MalaCards
    acrocapitofemoral dysplasia    small intestinal sarcoma    brachydactyly type a1    brachydactyly
    acrocallosal syndrome    exostosis    ollier disease    achondroplasia
    synostosis    skeletal dysplasias    syndactyly    klinefelter's syndrome
    craniosynostosis    cryptorchidism    hirschsprung's disease    b-cell chronic lymphocytic leukemia
    polydactyly    hypogonadism    chronic lymphocytic leukemia    short stature

    4 diseases from the University of Copenhagen DISEASES database for IHH:
    Brachydactyly     Bone disease     Polydactyly     Chondrosarcoma

    IHH for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for IHH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brachydactyly, type a1 96.5 5 16871364 (2), 12384778 (1), 19504437 (1)

    Genetic Association Database (GAD): IHH
    Human Genome Epidemiology (HuGE) Navigator: IHH (18 documents)

    Export disorders for IHH gene to outside databases

    (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 IHH gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with IHH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. (PubMed id 7590746)1, 2, 3, 9 Marigo V.... Tabin C. (Genomics 1995)
    2. Is there a role for the IHH gene in Hirschsprung's disease? (PubMed id 14651602)1, 4, 9 Garcia-BarcelA^ M.M....Tam P.K. (Neurogastroenterol. Motil. 2003)
    3. A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (PubMed id 12384778)1, 2, 9 McCready M.E.... Bulman D.E. (Hum. Genet. 2002)
    4. Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. (PubMed id 20724312)1, 4 Meulenbelt I....Slagboom P.E. (Ann. Rheum. Dis. 2011)
    5. A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (Hum. Mol. Genet. 2010)
    6. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)1, 4 Lee J.J....Hirschhorn J. (Ann. Hum. Genet. 2010)
    7. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    8. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    9. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (Nat. Genet. 2008)
    10. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3549 HGNC: 5956 AceView: IHH Ensembl:ENSG00000163501 euGenes: HUgn3549
    ECgene: IHH Kegg: 3549 H-InvDB: IHH

    (According to HUGE)
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      --

    (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 IHH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IHH[genesymbol]

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

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



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