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

IHH Gene

protein-coding   GIFtS: 62
GCID: GC02M219919

indian hedgehog

(Previous names: Indian hedgehog (Drosophila) homolog, Indian hedgehog homolog...)
 Explore 36 diseases affiliated with
IHH via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IHH    

Aliases
for IHH gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Indian Hedgehog1 2     Indian Hedgehog (Drosophila) Homolog1
BDA11 2 5     Indian Hedgehog Homolog (Drosophila)1
HHG21 2     Indian Hedgehog Homolog2
HHG-22 3     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


Summaries
for IHH 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 IHH:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: IHH 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

Proteins
for IHH gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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 multimerization (By similarity)1
  • Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity1
  • View neXtProt modification sites for NX_Q14623

    • IHH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002172.2  
    ENSEMBL proteins: 
     ENSP00000295731  

    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
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    Uscn 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 IEA--
    GO:0031012extracellular matrix IEA--


    IHH for ontologies           About GeneDecksing



    IHH Antibody Products: 
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    ThermoFisher Antibodies for IHH

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    Uscn ELISAs and CLIAs for IHH

    Protein Domains /
    Families
    for IHH gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IHH for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR009045 Hedgehog_sig/DD-Pept_Zn-bd_dom
     IPR001657 Hedgehog
     IPR003586 Hint_dom_C
     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 families (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


    Function
    for IHH gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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 Synchondroses, Chondrocytes in Nasal Capsule (see all 70).

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IHH
    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 plasmid: IHH 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005113patched binding NAS--
    GO:0008233peptidase activity IEA--
    GO:0015485cholesterol binding NAS--


    IHH for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ihhtm1Amc for IHH
         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


    Pathways & Interactions
    for IHH gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_Hedgehog and PTH signaling pathways in bone and cartilage development
    		Development_Hedgehog and PTH signaling pathways in bone and cartilage development1.00
    		Development Hedgehog and PTH signaling pathways in bone and cartilage development0.97
    2Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway1.00
    		Hedgehog Pathway0.32
    3Activation of cAMP-Dependent PKA
    		Activation of PKA through GPCR0.71
    		PKA Signaling0.56
    4Signaling events mediated by the Hedgehog family
    		Signaling events mediated by the Hedgehog family1.00
    5Endochondral Ossification
    		Endochondral Ossification1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/57 biological process terms (GO ID links to tree view) (see all 57):    About this table

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


    IHH for ontologies           About GeneDecksing



    Drugs & Compounds
    for IHH gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for IHH gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IHH
    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 plasmid: IHH 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    1 DOTS entry:

    DT.307021 

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

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

    GeneLoc Exon Structure


    Expression
    for IHH 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

    IHH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGAATTTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    IHH expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/54 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 54) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneCaudal Endochondral BonesHypertrophic ChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesHypertrophic ChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    CartilageTemporomandibular JointChondrocytesBone, Cartilage
    CartilageTemporomandibular JointFlattened ChondrocytesBone, Cartilage
    CartilageCervical Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Extra-embryonic endoderm cells (Fetal Stem / Progenitor Cell)Extraembryonic Tissues
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Primitive gut tube-like cells (A scalable, suspensi...)

    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

    Primer
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    In Situ
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    Orthologs
    for IHH 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 IHH gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 75(a)
    		 1 ↔ 1
    		 1(88009691-88039983)
    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
    		 39(a)
    		 1 → many
    		 3R(18953891-18967628)


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

    Paralogs
    for IHH gene

    (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



    Genomic Variants
    for IHH gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/121 NCBI SNPs in IHH are shown (see all 121)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219178531,2
    		Cpathogenic219922341(-) TGACCA/GAGGGC 2 K E mis10--------
    rs1219178541,2
    		Cpathogenic219924890(-) GCCGAA/CCGCCT 3 E D mis1 us2k10--------
    rs1219178551,2
    		Cpathogenic219924892(-) GCGCCA/GACCGC 3 N D us2k1 mis10--------
    rs1219178591,2
    		Cpathogenic219924906(-) CGAGGA/GGAACA 3 E G mis1 us2k10--------
    rs1219178521,2
    		Cpathogenic219924907(-) ACGAGA/GAGAAC 3 K E mis1 us2k10--------
    rs1412076021,2
    		--219918910(+) CCATCC/GTTGTT 1 -- ds50010--------
    rs1468631161,2
    		--219919137(+) CTGGAC/TTCTGT 1 -- ds50010--------
    rs10540011,2
    		F--219919289(-) CCCTTC/TTGCTG 1 -- ut311Minor allele frequency- T:0.02MN 184
    rs1807385851,2
    		--219919500(+) CTGGAC/GAGCAT 1 -- ut310--------
    rs75862581,2
    		H--219919504(+) ACAGCA/GTCGGG 1 -- ut314Minor allele frequency- G:0.00NS EA 420

    HapMap Linkage Disequilibrium report for IHH (219919142 - 219925238 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IHH: --
    Human Gene Mutation Database (HGMD): IHH

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing IHH:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IHH
    DNA2.0 Custom Variant and Variant Library Synthesis for IHH

    Disorders / Diseases
    for IHH gene

    (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.)
    About This Section
    IHH for disorders           About GeneDecksing

    OMIM gene information: 600726   
    OMIM disorders: 607778  112500  
    UniProtKB/Swiss-Prot: IHH_HUMAN, Q14623
  • Defects in IHH are the cause of brachydactyly type A1 (BDA1) [MIM:112500]. BDA1 is an autosomal dominant
    • disorder 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
  • Defects in IHH are a cause of acrocapitofemoral dysplasia (ACFD) [MIM:607778]. ACFD is 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 were also present to a variable extent at the shoulders, knees, and ankles

    20/36 diseases for IHH (see all 36):    About MalaCards
    brachydactyly type a1    acrocapitofemoral dysplasia    brachydactyly    delayed puberty
    small intestinal sarcoma    pediatric crohns disease    enchondromatosis    acrocallosal syndrome
    short stature    ollier disease    exostosis    achondroplasia
    chronic lymphocytic leukemia    klinefelter's syndrome    synostosis    lymphocytic leukemia
    crohn's disease    hirschsprung's disease    syndactyly    cryptorchidism

    4 diseases from the University of Copenhagen DISEASES database for IHH:
    Brachydactyly     Bone disease     Klinefelter's syndrome     Polydactyly

    1 Novoseek 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

    Publications
    for IHH 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 IHH gene, integrated from 9 sources (see all 78):
    (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. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation. (PubMed id 14770182)1, 3 van den Brink G.R....Peppelenbosch M.P. (2004)
    6. 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)
    7. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. (PubMed id 12632327)1, 2 Hellemans J.... Mortier G.R. (2003)
    8. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. (PubMed id 11455389)1, 2 Gao B.... He L. (2001)
    9. Products, genetic linkage and limb patterning activity of a murine hedgehog gene. (PubMed id 7720571)1, 2 Chang D.T.... Beachy P.A. (1994)
    10. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (PubMed id 16871364)1, 9 Liu M....Wang Q.K. (2006)

    External Searches for IHH gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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    Genome Databases showing IHH gene

    (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

    Other Databases showing IHH gene

    (According to HUGE)
    About This Section
    		   --

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

    Intellectual Property
    for IHH gene

    (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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