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 morphog... See more...

Aliases for IHH Gene

Aliases for IHH Gene

  • Indian Hedgehog Signaling Molecule 2 3 5
  • Indian Hedgehog Protein 3 4
  • BDA1 2 3
  • HHG2 2 3
  • Indian Hedgehog (Drosophila) Homolog 2
  • Indian Hedgehog Homolog 3
  • HHG-2 4
  • IHH 5

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 Signaling Molecule) is a Protein Coding gene. Diseases associated with IHH include Brachydactyly, Type A1 and Acrocapitofemoral Dysplasia. Among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and patched binding. An important paralog of this gene is SHH.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IHH Gene

Genomics for IHH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IHH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J219059 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 610.6 +1.0 1009 3.3 HNRNPL GATAD2A CTCF ATF7 TFE3 ZIC2 RBFOX2 RXRB REST RAD21 IHH MIR3131 LOC100129175 MIR375 NHEJ1 SLC23A3 CFAP65
GH02J219080 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.1 -23.6 -23565 7.4 GATAD2A TFE3 SOX13 RCOR2 ZNF7 RXRB IKZF2 TCF7 ZKSCAN8 TGIF2 IHH NHEJ1 SLC23A3 LOC100129175 MIR375 MIR153-1 PTPRN RESP18 MN297770 RN7SL764P
GH02J219110 Enhancer 1 ENCODE dbSUPER 21.1 -51.4 -51361 3 GATAD2A REST TFE3 SOX13 NFKBIZ RCOR2 RXRB IRF2 SP1 CEBPA IHH MIR375 LOC100129175 CRYBA2 FEV LINC00608 PTPRN NHEJ1 SLC23A3 CDK5R2
GH02J219116 Enhancer 1.1 Ensembl ENCODE dbSUPER 18.7 -56.2 -56202 1 GATAD2A NFKBIZ RXRB IRF2 SP1 SOX13 TCF7 ZKSCAN8 FOXA2 YY1 IHH LOC100129175 MIR375 NHEJ1 SLC23A3 RESP18 lnc-IHH-1 piR-33383-006 ENSG00000280537
GH02J219121 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 11.6 -64.3 -64318 7.5 GATAD2A PRDM10 IKZF1 NFKBIZ RCOR2 ZNF7 JUND FOXA1 ZSCAN4 RXRB lnc-IHH-1 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 RETREG2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IHH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IHH

Top Transcription factor binding sites by QIAGEN in the IHH gene promoter:
  • C/EBPbeta
  • CUTL1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a
  • STAT1
  • XBP-1

Genomic Locations for IHH Gene

Genomic Locations for IHH Gene
chr2:219,054,424-219,060,921
(GRCh38/hg38)
Size:
6,498 bases
Orientation:
Minus strand
chr2:219,919,142-219,925,238
(GRCh37/hg19)
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. Interacts with glypican GPC3 (By similarity).

    Three dimensional structures from OCA and Proteopedia for IHH Gene

neXtProt entry for IHH Gene

Post-translational modifications for IHH Gene

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

Other Protein References for IHH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IHH Gene

Domains & Families for IHH Gene

Gene Families for IHH Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for IHH Gene

InterPro:
Blocks:
  • Purine/pyrimidine phosphoribosyl transferase
  • Hedgehog amino-terminal signaling domain
  • Sonic hedgehog protein signature
  • Hedgehog protein, hint region
  • Hedgehog/Intein hint domain, C-terminal
  • Hedgehog/DD-peptidase, zinc-binding motif
ProtoNet:

Suggested Antigen Peptide Sequences for IHH Gene

GenScript: Design optimal peptide antigens:
  • HHG-2 (IHH_HUMAN)

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

Function for IHH Gene

Molecular function for IHH Gene

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).
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

LifeMap Function Summary for IHH Gene

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

Phenotypes From GWAS Catalog for IHH Gene

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 IBA,IDA 21537345
GO:0005515 protein binding IPI 20519495
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with IHH: view
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:
  • Ihh Ihh<tm1Amc>
  • Ihh Ihh<tm1.1Bhum>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IHH

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IHH gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for IHH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IEA,IDA 21537345
GO:0016020 membrane IEA --
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with IHH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IHH Gene

Pathways & Interactions for IHH Gene

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

Pathways by source for IHH Gene

1 GeneGo (Thomson Reuters) pathway for IHH Gene
  • Development_Hedgehog and PTH signaling pathways in bone and cartilage development
4 Qiagen pathways for IHH Gene
  • Activation of PKA through GPCR
  • Hedgehog Signaling in Mammals
  • Molecular Mechanisms of Cancer
  • PKA Signaling

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:0001501 skeletal system development IEA,IMP 21537345
GO:0001503 ossification IEA --
GO:0001569 branching involved in blood vessel morphogenesis IEA --
GO:0001649 osteoblast differentiation IEA --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with IHH: view

Drugs & Compounds for IHH Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy 337
Methyltestosterone Approved Pharma 320
Testosterone Approved, Experimental, Investigational Pharma Endogenous androgen receptor agonist 660
Testosterone enanthate Approved Pharma 320
Testosterone undecanoate Approved, Investigational Pharma 320

(7) 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
Purmorphamine Hedgehog agonist 483367-10-8
SANT-1 Shh inhibitor,potent and cell-permeable 304909-07-7
genes like me logo Genes that share compounds with IHH: view

Drug Products

Transcripts for IHH Gene

mRNA/cDNA for IHH Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IHH

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

No ASD Table

Relevant External Links for IHH Gene

GeneLoc Exon Structure for
IHH

Expression for IHH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for IHH Gene



Protein tissue co-expression partners for IHH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IHH

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.

Evidence on tissue expression from TISSUES for IHH Gene

  • Bone marrow(4.5)
  • Lung(4.4)
  • Bone(3)
  • Nervous system(2.9)
  • Heart(2.8)
  • Stomach(2.8)
  • Intestine(2.6)
  • Muscle(2.6)
  • Kidney(2.6)
  • Skin(2.5)
  • Liver(2.5)
  • Thyroid gland(2.3)
  • Pancreas(2.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IHH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • respiratory
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with IHH: view

Orthologs for IHH Gene

This gene was present in the common ancestor of animals.

Orthologs for IHH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IHH 30 31
  • 99.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IHH 30 31
  • 91.69 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IHH 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia IHH 30
  • 90 (n)
Mouse
(Mus musculus)
Mammalia Ihh 30 17 31
  • 88.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ihh 30
  • 88.73 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia IHH 31
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IHH 30 31
  • 76.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IHH 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ihh 30
  • 68.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia bhh-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ihhb 30 31
  • 64.72 (n)
OneToMany
ihha 31
  • 59 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta hh 31
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1423 30
Species where no ortholog for IHH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for IHH: view image

Paralogs for IHH Gene

Paralogs for IHH Gene

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

  • IHH_HUMAN
  • Q4ZFW8_HUMAN
genes like me logo Genes that share paralogs with IHH: view

Variants for IHH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IHH Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
735057 Likely Benign: Type A1 brachydactyly; not provided 219,055,222(-) G/A SYNONYMOUS_VARIANT
738416 Likely Benign: not provided 219,055,786(-) G/A SYNONYMOUS_VARIANT
738671 Benign/Likely Benign: Type A1 brachydactyly; not provided 219,060,261(-) G/T SYNONYMOUS_VARIANT
746444 Likely Benign: not provided 219,055,777(-) G/A SYNONYMOUS_VARIANT
769266 Benign: not provided 219,055,315(-) A/. NO_SEQUENCE_ALTERATION

Additional dbSNP identifiers (rs#s) for IHH Gene

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

Variant ID Type Subtype PubMed ID
nsv584491 CNV loss 21841781
nsv821902 CNV gain 20364138
nsv821903 CNV loss 20364138
nsv954840 CNV deletion 24416366

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)

Additional Variant Information for IHH Gene

Human Gene Mutation Database (HGMD)
IHH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IHH

SNP Genotyping and Copy Number Assay Products

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

Disorders for IHH Gene

MalaCards: The human disease database

(50) MalaCards diseases for IHH Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • 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. BDA1 inheritance is autosomal dominant. {ECO:0000269 PubMed:11455389, ECO:0000269 PubMed:12384778, ECO:0000269 PubMed:21537345}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Acrocapitofemoral dysplasia (ACFD) [MIM:607778]: An autosomal recessive 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.

Additional Disease Information for IHH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … Seidman CE (Genomics 1995) 2 3 4 23
  2. Is there a role for the IHH gene in Hirschsprung's disease? (PMID: 14651602) Garcia-Barceló MM … Tam PK (Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society 2003) 3 23 41
  3. A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. (PMID: 12384778) McCready ME … Bulman DE (Human genetics 2002) 3 4 23
  4. Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (PMID: 21537345) Ma G … He L (Cell research 2011) 3 4
  5. Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. (PMID: 20724312) Meulenbelt I … Slagboom PE (Annals of the rheumatic diseases 2011) 3 41

Products for IHH Gene

  • Addgene plasmids for IHH

Sources for IHH Gene