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Aliases for IHH Gene

Aliases for IHH Gene

  • Indian Hedgehog 2 3 5
  • Indian Hedgehog (Drosophila) Homolog 2
  • Indian Hedgehog Homolog (Drosophila) 2
  • Indian Hedgehog Homolog 3
  • HHG-2 4
  • BDA1 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 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]

GeneCards Summary for IHH Gene

IHH (Indian Hedgehog) is a Protein Coding gene. Diseases associated with IHH include Brachydactyly, Type A1 and Acrocapitofemoral Dysplasia. Among its related pathways are Endochondral Ossification 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

Enhancers for IHH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IHH on UCSC Golden Path with GeneCards custom track

Genomic Location for IHH Gene

Chromosome:
2
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

Genes around IHH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IHH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 282
  • Modification sites at PhosphoSitePlus

Other Protein References for IHH Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

No data available for DME Specific Peptides for IHH Gene

Domains & Families 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 :
  • 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.
  • Belongs to the hedgehog family.
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:
genes like me logo Genes that share phenotypes with IHH: view

Human Phenotype Ontology for IHH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IHH Gene

MGI Knock Outs for IHH:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
plasma membrane 5
extracellular 4
golgi apparatus 3
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
nucleus 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for IHH Gene

Pathways & Interactions for IHH Gene

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

SIGNOR curated interactions for IHH Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for IHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001947 heart looping ISS --
GO:0006508 proteolysis IEA --
GO:0007154 cell communication IEA --
GO:0007275 multicellular organism development IEA --
GO:0009968 negative regulation of signal transduction IEA --
genes like me logo Genes that share ontologies with IHH: view

Drugs & Compounds for IHH Gene

(17) Drugs for IHH Gene - From: ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Methyltestosterone Approved Pharma 519
Testosterone Approved, Investigational Pharma Endogenous androgen receptor agonist 519
Cyclopamine Pharma Hedgehog (Hh) signaling Inhibitor, Inhibitor of Hedgehog (Hh) signaling 0
Androgens Pharma 1232
Hormone Antagonists Pharma 12130

(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
genes like me logo Genes that share compounds with IHH: view

Transcripts for IHH Gene

mRNA/cDNA for IHH Gene

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

Unigene Clusters for IHH Gene

Indian hedgehog:
Representative Sequences:

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 (x23.8), Stomach (x7.9), and Small Intestine - Terminal Ileum (x6.4).

Protein differential expression in normal tissues from HIPED for IHH Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IHH: view

Protein tissue co-expression partners for IHH Gene

Primer 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

(2) 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
VAR_015981 Acrocapitofemoral dysplasia (ACFD)
VAR_015982 Brachydactyly A1 (BDA1)
VAR_015983 Brachydactyly A1 (BDA1)
VAR_015984 Brachydactyly A1 (BDA1)
VAR_015985 Brachydactyly A1 (BDA1)

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

Variation tolerance for IHH Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IHH Gene

Human Gene Mutation Database (HGMD)
IHH

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

Disorders for IHH Gene

MalaCards: The human disease database

(13) MalaCards diseases for IHH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brachydactyly, type a1
  • brachydactyly type a1
acrocapitofemoral dysplasia
  • acfd
brachydactyly
small intestine leiomyosarcoma
  • leiomyosarcoma of the small bowel
small intestinal sarcoma
  • sarcoma of the small intestine
- elite association - COSMIC cancer census association via MalaCards
Search IHH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IHH_HUMAN
  • 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.
  • 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.

Relevant External Links for IHH

Genetic Association Database (GAD)
IHH
Human Genome Epidemiology (HuGE) Navigator
IHH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. 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
  3. 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
  4. Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation. (PMID: 14770182) van den Brink G.R. … Peppelenbosch M.P. (Nat. Genet. 2004) 2 3
  5. 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

Products for IHH Gene

Sources for IHH Gene

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