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    IHH Indian hedgehog signaling molecule [ Homo sapiens (human) ]

    Gene ID: 3549, updated on 9-Dec-2024

    Summary

    Official Symbol
    IHHprovided by HGNC
    Official Full Name
    Indian hedgehog signaling moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:5956
    See related
    Ensembl:ENSG00000163501 MIM:600726; AllianceGenome:HGNC:5956
    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 proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
    Expression
    Biased expression in endometrium (RPKM 15.6), colon (RPKM 13.1) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IHH in Genome Data Viewer
    Location:
    2q35
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219054424..219060921, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219542768..219549269, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219919146..219925643, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100129175 Neighboring gene cilia and flagella associated protein 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:219889982-219890482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17138 Neighboring gene uncharacterized LOC107985987 Neighboring gene uncharacterized LOC124906120 Neighboring gene microRNA 3131 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:219941606-219942805 Neighboring gene non-homologous end joining factor 1 Neighboring gene RNA, 7SL, cytoplasmic 764, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Acrocapitofemoral dysplasia
    MedGen: C1843096 OMIM: 607778 GeneReviews: Not available
    not available
    Brachydactyly type A1A
    MedGen: CN295859 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol-protein transferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables patched binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables patched binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables patched binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-low-density lipoprotein particle binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone resorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye photoreceptor cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte differentiation involved in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digestive tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic skeletal joint development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in head morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intein-mediated protein splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maternal process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of eye pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of immature T cell proliferation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pancreas development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of T cell differentiation in thymus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of alpha-beta T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autoprocessing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteoglycan metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retinal pigment epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in self proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in smooth muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in smoothened signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in somite development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vitelline membrane formation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    indian hedgehog protein
    Names
    Indian hedgehog homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016741.2 RefSeqGene

      Range
      5000..11497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002181.4NP_002172.2  indian hedgehog protein preproprotein

      See identical proteins and their annotated locations for NP_002172.2

      Status: REVIEWED

      Source sequence(s)
      AC097468
      Consensus CDS
      CCDS33380.1
      UniProtKB/Swiss-Prot
      B9EGM5, O43322, Q14623, Q8N4B9
      Related
      ENSP00000295731.5, ENST00000295731.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219054424..219060921 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219542768..219549269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)