Homo sapiens Gene: IHH
Summary
InnateDB Gene IDBG-81274.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IHH
Gene Name Indian hedgehog
Synonyms BDA1; HHG2;
Species Homo sapiens
Ensembl Gene ENSG00000163501
Encoded Proteins
Indian hedgehog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:219054420-219060467
Strand Reverse strand
Band q35
Transcripts
ENST00000295731 ENSP00000295731
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005113 patched binding
GO:0005509 calcium ion binding
GO:0008233 peptidase activity
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001569 patterning of blood vessels
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001708 cell fate specification
GO:0001763 morphogenesis of a branching structure
GO:0001944 vasculature development
GO:0001947 heart looping
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003382 epithelial cell morphogenesis
GO:0003406 retinal pigment epithelium development
GO:0006029 proteoglycan metabolic process
GO:0006508 proteolysis
GO:0007154 cell communication
GO:0007224 smoothened signaling pathway
GO:0007267 cell-cell signaling
GO:0007275 multicellular organismal development
GO:0007389 pattern specification process
GO:0008284 positive regulation of cell proliferation
GO:0009880 embryonic pattern specification
GO:0009968 negative regulation of signal transduction
GO:0016539 intein-mediated protein splicing
GO:0030154 cell differentiation
GO:0030704 vitelline membrane formation
GO:0031016 pancreas development
GO:0032332 positive regulation of chondrocyte differentiation
GO:0032355 response to estradiol
GO:0032967 positive regulation of collagen biosynthetic process
GO:0033085 negative regulation of T cell differentiation in thymus
GO:0033088 negative regulation of immature T cell proliferation in thymus
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0035264 multicellular organism growth
GO:0035988 chondrocyte proliferation
GO:0040008 regulation of growth
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0045453 bone resorption
GO:0045595 regulation of cell differentiation
GO:0045596 negative regulation of cell differentiation
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0046639 negative regulation of alpha-beta T cell differentiation
GO:0048074 negative regulation of eye pigmentation
GO:0048469 cell maturation
GO:0048557 embryonic digestive tract morphogenesis
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048666 neuron development
GO:0048745 smooth muscle tissue development
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051216 cartilage development
GO:0060135 maternal process involved in female pregnancy
GO:0060220 camera-type eye photoreceptor cell fate commitment
GO:0060323 head morphogenesis
GO:0061053 somite development
GO:0072498 embryonic skeletal joint development
GO:0090136 epithelial cell-cell adhesion
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Hedgehog pathway
REACTOME
Processing-defective Hh variants abrogate ligand secretion pathway
Signaling by Hedgehog pathway
Release of Hh-Np from the secreting cell pathway
Signaling by GPCR pathway
Signal Transduction pathway
Hh ligand biogenesis disease pathway
Hedgehog ligand biogenesis pathway
GPCR ligand binding pathway
Class B/2 (Secretin family receptors) pathway
Disease pathway
KEGG
Hedgehog signaling pathway pathway
INOH
GPCR signaling pathway
Hedgehog signaling pathway pathway
PID BIOCARTA
PID NCI
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt Q14623
TrEMBL Q4ZFW8
UniProt Splice Variant
Entrez Gene 3549
UniGene Hs.654504
RefSeq NM_002181
HUGO HGNC:5956
OMIM 600726
CCDS CCDS33380
HPRD 02839
IMGT
EMBL AB018076 AC097468 BC034757 BC136587 BC136588 CH471063 L38517
GenPept AAA62178 AAH34757 AAI36588 AAI36589 AAX88920 BAA33523 EAW70675
RNA Seq Atlas 3549