• Gene id: 3549

Gene Summary

• Gene Symbol: IHH   Gene   UCSC   Ensembl
• Aliases: BDA1, HHG2
• Gene name: Indian hedgehog signaling molecule
• Alternate names: indian hedgehog protein, Indian hedgehog homolog,
• Gene location: 2q35 (219060920: 219054423)     Exons: 3     NC_000002.12
• Gene summary(Entrez): 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 essen
• OMIM: 300103

Protein Summary

• Protein general information: Q14623  
  • Name: Indian hedgehog protein (IHH) (HHG 2) [Cleaved into: Indian hedgehog protein N product; Indian hedgehog protein C product]
  • Length: 411  
  • Mass: 45251
  • Tissue specificity: Expressed in embryonic lung, and in adult kidney and liver.
• Sequence:

  MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSS
  ERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRA
  VDITTSDRDRNKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRP
  GDRVLAMGEDGSPTFSDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQP
  GQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSW
  TPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS

• Structural information:
  • Interpro: IPR001657  IPR001767  IPR009045  IPR000320  IPR003586   IPR003587  IPR036844  IPR033385  IPR006141  
  • Prosite: PS50817
  • PDB: 3K7G 3K7H 3K7I 3K7J 3N1F 3N1M 3N1O 3N1P
  • PDBsum: 3K7G 3K7H 3K7I 3K7J 3N1F 3N1M 3N1O 3N1P
  • STRING: ENSP00000295731
• Other Databases: GeneCards:  IHH  Malacards:  IHH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001708	cell fate specification	IBA	biological process
GO:0007224	smoothened signaling pathway	IBA	biological process
GO:0010468	regulation of gene expression	IBA	biological process
GO:0005113	patched binding	IBA	molecular function
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0007224	smoothened signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005113	patched binding	IPI	molecular function
GO:0001501	skeletal system development	IMP	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0016539	intein-mediated protein splicing	IEA	biological process
GO:0016540	protein autoprocessing	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0072498	embryonic skeletal joint development	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0060323	head morphogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	IEA	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0030704	vitelline membrane formation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0005113	patched binding	IEA	molecular function
GO:0003406	retinal pigment epithelium development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001763	morphogenesis of a branching structure	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0060135	maternal process involved in female pregnancy	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0090136	epithelial cell-cell adhesion	IEA	biological process
GO:0060220	camera-type eye photoreceptor cell fate commitment	IEA	biological process
GO:0048666	neuron development	IEA	biological process
GO:0048596	embryonic camera-type eye morphogenesis	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0048074	negative regulation of eye pigmentation	IEA	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0045453	bone resorption	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0035988	chondrocyte proliferation	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0009880	embryonic pattern specification	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0006029	proteoglycan metabolic process	IEA	biological process
GO:0003413	chondrocyte differentiation involved in endochondral bone morphogenesis	IEA	biological process
GO:0003382	epithelial cell morphogenesis	IEA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0097421	liver regeneration	IEA	biological process
GO:0001947	heart looping	ISS	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	ISS	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0061053	somite development	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer
hsa04340	Hedgehog signaling pathway

Diseases

Associated diseases	References
Brachydactyly	KEGG:H00482
Acrocapitofemoral dysplasia	KEGG:H00675
Brachydactyly	KEGG:H00482
Acrocapitofemoral dysplasia	KEGG:H00675
Familial adenomatous polyposis	PMID:25307863
Acrocapitofemoral dysplasia	PMID:12632327
Autism spectrum disorder	PMID:26691363
Brachydactyly	PMID:18629882
Retinopathy of prematurity	PMID:18787502
Osteoarthritis	PMID:24786088
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq