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    IHH indian hedgehog [ Homo sapiens (human) ]

    Gene ID: 3549, updated on 28-Jun-2015
    Official Symbol
    IHHprovided by HGNC
    Official Full Name
    indian hedgehogprovided by HGNC
    Primary source
    HGNC:HGNC:5956
    See related
    Ensembl:ENSG00000163501; HPRD:02839; MIM:600726; Vega:OTTHUMG00000154631
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BDA1; HHG2
    Summary
    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]
    Orthologs
    Location:
    2q33-q35
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 2 NC_000002.12 (219054420..219060516, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219919142..219925238, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100129175 Neighboring gene coiled-coil domain containing 108 Neighboring gene microRNA 375 Neighboring gene microRNA 3131 Neighboring gene nonhomologous end-joining factor 1 Neighboring gene solute carrier family 23, member 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Acrocapitofemoral dysplasia
    MedGen: C1843096 OMIM: 607778 GeneReviews: Not available
    Compare labs
    Brachydactyly type A1
    MedGen: C1862151 OMIM: 112500 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    patched binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye photoreceptor cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic skeletal joint development IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    head morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    intein-mediated protein splicing IEA
    Inferred from Electronic Annotation
    more info
     
    maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of eye pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of immature T cell proliferation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    patterning of blood vessels IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    proteoglycan metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    retinal pigment epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    smooth muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    somite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vitelline membrane formation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    indian hedgehog protein
    Names
    indian hedgehog protein
    HHG-2
    Indian hedgehog homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016741.1 RefSeqGene

      Range
      5001..11097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002181.3NP_002172.2  indian hedgehog protein precursor

      See identical proteins and their annotated locations for NP_002172.2

      Status: REVIEWED

      Source sequence(s)
      AI802733, BC034757, BC136587
      Consensus CDS
      CCDS33380.1
      UniProtKB/Swiss-Prot
      Q14623
      Related
      ENSP00000295731, OTTHUMP00000206322, ENST00000295731, OTTHUMT00000336408
      Conserved Domains (3) summary
      cd00081
      Location:203347
      Hint; Hedgehog/Intein domain, found in Hedgehog proteins as well as proteins which contain inteins and undergo protein splicing (e.g. DnaB, RIR1-2, GyrA and Pol). In protein splicing an intervening polypeptide sequence - the intein - is excised from a protein, ...
      pfam01079
      Location:192386
      Hint; Hint module
      pfam01085
      Location:44189
      HH_signal; Hedgehog amino-terminal signalling domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p2 Primary Assembly

      Range
      219054420..219060516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      219926506..219932606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)