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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 brachydactyly type a1, and acrocapitofemoral dysplasia, and among its related super-pathways are Hedgehog Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include peptidase activity and patched 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for IHH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: IHH_HUMAN, Q14623 (See protein sequence)
Recommended Name: Indian hedgehog protein precursor  
Size: 411 amino acids; 45251 Da
Subcellular location: 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)
Subcellular location: Indian hedgehog protein C-product: Secreted, extracellular space (By similarity). Note=The
C-terminal peptide diffuses from the cell (By similarity)
6/8 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:

  • 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). The N-product is the active species in both
    local and long-range signaling, whereas the C-product has no signaling activity (By similarity)
  • UniProtKB: Cholesterylation is required for N-product targeting to lipid rafts and multimerization (By similarity)
  • UniProtKB: Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity
  • View neXtProt modification sites for NX_Q14623

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

    IHH Protein Expression
    REFSEQ proteins: NP_002172.2  
    ENSEMBL proteins: 
     ENSP00000295731  

    Human Recombinant Protein Products for IHH: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals IHH Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for IHH
    Cloud-Clone Corp. Proteins for IHH 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    IHH for ontologies           About GeneDecksing



    IHH Antibody Products: 
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    R&D Systems Antibodies for IHH (Indian Hedgehog/Ihh)
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    Abcam antibodies for IHH
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    ThermoFisher Antibodies for IHH
    LSBio Antibodies in human, mouse, rat for IHH 

    Assay Products for IHH: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for IHH
    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)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR001657 Hedgehog
     IPR003586 Hint_dom_C
     IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom
     IPR000320 Hedgehog_signaling_dom
     IPR006141 Intein_splice_site

    Graphical View of Domain Structure for InterPro Entry Q14623

    ProtoNet protein and cluster: Q14623

    5/6 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
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, 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: 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: Chondrocytes in Temporomandibular Joint, Extraembryonic Visceral Endoderm Cells in Extraembryonic Visceral Endoderm (see all 21).

    It affects the following cells: Chondrocytes in Autopod Epiphyseal End, Chondrocytes in Synchondroses (see all 70).

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding IPI--
    GO:0005509calcium ion binding IDA--
    GO:0008233peptidase activity IEA--
    GO:0015485cholesterol binding ----
         
    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  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 - Custom generated mouse model solutions for IHH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    8/27 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for IHH
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    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
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                         Customized lentivirus expression plasmids for stable overexpression of IHH 

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


    (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 IHH About   (see all 8)                                                                                              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
    3Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    4Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    5Basal cell carcinoma
    Hedgehog signaling pathway0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for IHH
        Development Hedgehog and PTH signaling pathways in bone and cartilage development

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


    IHH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IHH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for IHH (Q146233 ENSP000002957314) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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): 5/52 biological process terms (GO ID links to tree view) (see all 52):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    IHH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about IHH

    (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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/27 QIAGEN miScript miRNA 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*
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.307021 

    24/30 AceView cDNA sequences (see all 30):

    BE465790 AI919135 BQ184227 AI683670 BQ185920 AI963227 AI810983 AA702847 
    AI732401 BC034757 AI248649 AI560155 BI517875 AA328781 NM_002181 BG824238 
    BE857677 L38517 AI802733 BE869172 AW572252 AA099746 AI015155 AI857739 

    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™, 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

    IHH expression in normal human tissues (normalized intensities)      IHH embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 43 entries
             Flattened Chondrocytes Temporomandibular Joint
     
     Bone (Muscoskeletal System)    fully expand to see all 41 entries
             Prehypertrophic Chondrocytes Rostral Endochondral Facial Bones
             Zeugopod Growth Plate
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 4 entries
             Hindgut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             limb/forelimb   
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 3 entries
             Hypoblast Cells Hypoblast

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

    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

        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IHH gene from 6/14 species (see all 14)    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 76.74(n)
    78.62(a)
      395801  NM_204957.1  NP_990288.1 
    lizard
    (Anolis carolinensis)
    Reptilia IHH6
    Hedgehog protein
    73(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 ihha1 Indian hedgehog homolog a 63.58(n)
    64.52(a)
      619520  NM_001034993.2  NP_001030165.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta hh6
    hedgehog
    38(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)
    About This Section
    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) 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

    10/173 SNPs in IHH are shown (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
    ----------
    VAR_0159844
    Brachydactyly A1 (BDA1)4--see VAR_0159842 D N 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
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/35 diseases for IHH (see all 35):    About MalaCards
    brachydactyly type a1    acrocapitofemoral dysplasia    small intestinal sarcoma    brachydactyly
    ollier disease    acrocallosal syndrome    exostosis    crohn's disease
    achondroplasia    synostosis    syndactyly    skeletal dysplasias
    klinefelter's syndrome    craniosynostosis    b-cell chronic lymphocytic leukemia    cryptorchidism
    hirschsprung's disease    polydactyly    hypogonadism    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)
    About This Section

    PubMed articles for IHH gene, integrated from 9 sources (see all 83):
    (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. (1995)
    2. Is there a role for the IHH gene in Hirschsprung's disease? (PubMed id 14651602)1, 4, 9 Garcia-Barcelo M.M....Tam P.K. (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. (2002)
    4. Meta-analyses of genes modulating intracellular T3 bi o-availability reveal a possible role for the DIO3 gene in osteoarthritis susce ptibility. (PubMed id 20724312)1, 4 Meulenbelt I....Slagboom P.E. (2011)
    5. A genome-wide association study in 19 633 Japanese su bjects identified LHX3-QSOX2 and IGF1 as adult height loci. (PubMed id 20189936)1, 4 Okada Y....Kamatani N. (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. (2010)
    7. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (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. (2009)
    9. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (2008)
    10. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (2008)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 3549 HGNC: 5956 AceView: IHH Ensembl:ENSG00000163501 euGenes: HUgn3549
    ECgene: IHH Kegg: 3549 H-InvDB: IHH

    (According to HUGE)
    About This Section
      --

    (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 IHH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IHH

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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