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Aliases for IHH Gene

Aliases for IHH Gene

  • Indian Hedgehog 2 3
  • HHG-2 3 4
  • BDA1 3 6
  • Indian Hedgehog (Drosophila) Homolog 2
  • Indian Hedgehog Homolog (Drosophila) 2
  • Indian Hedgehog Homolog 3
  • Indian Hedgehog Protein 3
  • HHG2 3

External Ids for IHH Gene

Previous GeneCards Identifiers for IHH Gene

  • GC02M217935
  • GC02M218640
  • GC02M219883
  • GC02M220121
  • GC02M220122
  • GC02M219744
  • GC02M219628
  • GC02M219919
  • GC02M211773

Summaries for IHH Gene

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 brachydactyly, type a1. Among its related pathways are Signaling by GPCR and ERK Signaling. GO annotations related to this gene include calcium ion binding and patched binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot for IHH Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IHH Gene

Genomics for IHH Gene

Regulatory Elements for IHH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for IHH Gene

Start:
219,054,420 bp from pter
End:
219,060,516 bp from pter
Size:
6,097 bases
Orientation:
Minus strand

Genomic View for IHH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IHH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IHH Gene

Proteins for IHH Gene

  • Protein details for IHH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14623-IHH_HUMAN
    Recommended name:
    Indian hedgehog protein
    Protein Accession:
    Q14623
    Secondary Accessions:
    • B9EGM5
    • O43322
    • Q8N4B9

    Protein attributes for IHH Gene

    Size:
    411 amino acids
    Molecular mass:
    45251 Da
    Quaternary structure:
    • Homooligomer (indian hedgehog protein N-product). Interacts with BOC and CDON. Interacts with PTCH1.

    Three dimensional structures from OCA and Proteopedia for IHH Gene

neXtProt entry for IHH Gene

Proteomics data for IHH Gene at MOPED

Post-translational modifications for IHH Gene

  • Cholesterylation is required for N-product targeting to lipid rafts and multimerization.
  • Palmitoylated. N-palmitoylation is required for N-product multimerization and full activity.
  • 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).
  • Glycosylation at Asn282
  • Modification sites at PhosphoSitePlus

Other Protein References for IHH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for IHH (Indian Hedgehog/Ihh)

No data available for DME Specific Peptides for IHH Gene

Domains for IHH Gene

Suggested Antigen Peptide Sequences for IHH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14623

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.
Family:
  • Belongs to the hedgehog family.
genes like me logo Genes that share domains with IHH: view

No data available for Gene Families for IHH Gene

Function for IHH Gene

Molecular function for IHH Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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).

LifeMap Function Summary for IHH Gene

During embryonic development, IHH as signaling molecule is secreted from the following cells
It affects the following cells:

Gene Ontology (GO) - Molecular Function for IHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005113 patched binding IPI 21537345
GO:0005509 calcium ion binding IDA 21537345
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with IHH: view
genes like me logo Genes that share phenotypes with IHH: view

Animal Models for IHH Gene

MGI Knock Outs for IHH:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IHH

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for IHH Gene

Localization for IHH Gene

Subcellular locations from UniProtKB/Swiss-Prot for IHH Gene

Indian hedgehog protein N-product: Cell membrane; Lipid-anchor; Extracellular side. Note=The N-terminal peptide remains associated with the cell surface. {ECO:0000250}.
Indian hedgehog protein C-product: Secreted, extracellular space. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.
Cell membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IHH Gene COMPARTMENTS Subcellular localization image for IHH gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 3
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for IHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region --
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane IDA 21537345
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with IHH: view

Pathways for IHH Gene

genes like me logo Genes that share pathways with IHH: view

PCR Array Products

Gene Ontology (GO) - Biological Process for IHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 21537345
GO:0001503 ossification --
GO:0001569 patterning of blood vessels IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with IHH: view

Compounds for IHH Gene

(6) ApexBio Compounds for IHH Gene

Compound Action Cas Number
Cyclopamine Hedgehog (Hh) signaling Inhibitor [4449-51-8]
GANT61 GLI antagonist [500579-04-4]
GDC-0449 (Vismodegib) "Hedgehog antagonist,potent and selective" [879085-55-9]
LY2940680 "Hedgehog/SMO antagonist,inhibits Hh signaling" [1258861-20-9]
PF-5274857 "Smo antagonist,potent and selective" [1373615-35-0]
SANT-1 "Shh inhibitor,potent and cell-permeable" [304909-07-7]

(1) Novoseek inferred chemical compound relationships for IHH Gene

Compound -log(P) Hits PubMed IDs
cyclopamine 85.6 1
genes like me logo Genes that share compounds with IHH: view

Transcripts for IHH Gene

mRNA/cDNA for IHH Gene

(30) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IHH Gene

Indian hedgehog:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IHH

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IHH Gene

No ASD Table

Relevant External Links for IHH Gene

GeneLoc Exon Structure for
IHH
ECgene alternative splicing isoforms for
IHH

Expression for IHH Gene

mRNA expression in normal human tissues for IHH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IHH Gene

This gene is overexpressed in Colon - Transverse (23.8), Stomach (7.9), and Small Intestine - Terminal Ileum (6.4).

Protein differential expression in normal tissues for IHH Gene

This gene is overexpressed in Plasma (54.0) and Synovial fluid (13.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for IHH Gene

SOURCE GeneReport for Unigene cluster for IHH Gene Hs.654504

mRNA Expression by UniProt/SwissProt for IHH Gene

Q14623-IHH_HUMAN
Tissue specificity: Expressed in embryonic lung, and in adult kidney and liver
genes like me logo Genes that share expressions with IHH: view

Expression partners for IHH Gene

In Situ Assay Products

Orthologs for IHH Gene

This gene was present in the common ancestor of animals.

Orthologs for IHH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IHH 35
  • 91.69 (n)
  • 97.09 (a)
IHH 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IHH 35
  • 90 (n)
  • 93.85 (a)
mouse
(Mus musculus)
Mammalia Ihh 35
  • 88.89 (n)
  • 95.13 (a)
Ihh 16
Ihh 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IHH 35
  • 99.03 (n)
  • 98.54 (a)
IHH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ihh 35
  • 88.73 (n)
  • 94.89 (a)
oppossum
(Monodelphis domestica)
Mammalia IHH 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IHH 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves IHH 35
  • 76.81 (n)
  • 79.3 (a)
IHH 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IHH 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ihh 35
  • 68.5 (n)
  • 74.08 (a)
African clawed frog
(Xenopus laevis)
Amphibia bhh-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii ihhb 35
  • 64.72 (n)
  • 66.31 (a)
ihha 36
  • 59 (a)
OneToMany
ihhb 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta hh 36
  • 39 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1423 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
Species with no ortholog for IHH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IHH Gene

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

Paralogs for IHH Gene

Paralogs for IHH Gene

Selected SIMAP similar genes for IHH Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with IHH: view

Variants for IHH Gene

Sequence variations from dbSNP and Humsavar for IHH Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs3099 -- 219,055,032(-) CACCC(C/G)CGTCG utr-variant-3-prime
rs427587 -- 219,056,100(-) GGCAA(A/G)GTATT intron-variant
rs437512 -- 219,061,446(-) GCACC(A/G)GGTTG upstream-variant-2KB
rs1054001 -- 219,054,567(-) CCCTT(C/T)TGCTG utr-variant-3-prime
rs1960326 -- 219,061,305(+) GGCAG(G/T)GGCCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for IHH Gene

Variant ID Type Subtype PubMed ID
nsv821902 CNV Gain 20364138
nsv821903 CNV Loss 20364138

Relevant External Links for IHH Gene

HapMap Linkage Disequilibrium report
IHH
Human Gene Mutation Database (HGMD)
IHH

PCR Panel Products

  • Copy Number PCR Panels: for IHH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IHH Gene

Disorders for IHH Gene

(2) OMIM Diseases for IHH Gene (600726)

UniProtKB/Swiss-Prot

IHH_HUMAN
  • 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. {ECO:0000269 PubMed:11455389, ECO:0000269 PubMed:12384778}. 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. {ECO:0000269 PubMed:12632327}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for IHH Gene

(1) Novoseek inferred disease relationships for IHH Gene

Disease -log(P) Hits PubMed IDs
brachydactyly, type a1 96.5 4

Relevant External Links for IHH

Genetic Association Database (GAD)
IHH
Human Genome Epidemiology (HuGE) Navigator
IHH
genes like me logo Genes that share disorders with IHH: view

No data available for Genatlas for IHH Gene

Publications for IHH Gene

  1. Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog. (PMID: 7590746) Marigo V. … Tabin C. (Genomics 1995) 2 3 4 23
  2. A novel mutation in the IHH gene causes brachydactyly type A1: a 95- year-old mystery resolved. (PMID: 12384778) McCready M.E. … Bulman D.E. (Hum. Genet. 2002) 3 4 23
  3. Is there a role for the IHH gene in Hirschsprung's disease? (PMID: 14651602) Garcia-BarcelA^ M.M. … Tam P.K. (Neurogastroenterol. Motil. 2003) 3 23 48
  4. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. (PMID: 16871364) Liu M. … Wang Q.K. (J. Hum. Genet. 2006) 3 23
  5. Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. (PMID: 18629882) Lodder E.M. … de Graaff E. (Am. J. Med. Genet. A 2008) 3 23

Products for IHH Gene

  • Addgene plasmids for IHH

Sources for IHH Gene

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