Endometriosis Knowledgebase

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Gene id

3549

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

IHH Gene UCSC Ensembl

Aliases

BDA1, HHG2

Gene name

indian hedgehog

Alternate names

indian hedgehog protein, Indian hedgehog homolog,

Gene location

2q35 (219060515: 219054419) 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 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]

OMIM

600726

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: 45,251

Tissue specificity: Expressed in embryonic lung, and in adult kidney and liver.

Sequence

MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSS
ERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRA
VDITTSDRDRNKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRP
GDRVLAMGEDGSPTFSDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQP
GQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSW
TPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS

Structural information

Interpro:	IPR001657 IPR028992 IPR009045 IPR000320 IPR001767 IPR003586 IPR003587 IPR033385 IPR006141
Prosite:	PS50817
Pfam:	PF01085 PF01079
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:0001501	skeletal system developme nt	IMP	biological_process
GO:0001947	heart looping	ISS	biological_process
GO:0005113	patched binding	IPI	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005615	extracellular space	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0007224	smoothened signaling path way	IDA	biological_process
GO:0007267	cell-cell signaling	IEA	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0009968	negative regulation of si gnal transduction	IEA	biological_process
GO:0016539	intein-mediated protein s plicing	IEA	biological_process
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0033085	negative regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0033088	negative regulation of im mature T cell proliferati on in thymus	ISS	biological_process
GO:0033089	positive regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0042733	embryonic digit morphogen esis	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045880	positive regulation of sm oothened signaling pathwa y	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0046639	negative regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0051216	cartilage development	IMP	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0061053	somite development	ISS	biological_process
GO:0001501	skeletal system developme nt	IMP	biological_process
GO:0001947	heart looping	ISS	biological_process
GO:0005113	patched binding	IPI	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0007224	smoothened signaling path way	IEA	biological_process
GO:0007224	smoothened signaling path way	IDA	biological_process
GO:0007267	cell-cell signaling	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0008233	peptidase activity	IEA	molecular_function
GO:0008233	peptidase activity	IEA	molecular_function
GO:0009968	negative regulation of si gnal transduction	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016539	intein-mediated protein s plicing	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0033085	negative regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0033088	negative regulation of im mature T cell proliferati on in thymus	ISS	biological_process
GO:0033089	positive regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0042733	embryonic digit morphogen esis	IMP	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0045595	regulation of cell differ entiation	IEA	biological_process
GO:0045880	positive regulation of sm oothened signaling pathwa y	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0046639	negative regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0051216	cartilage development	IMP	biological_process
GO:0060135	maternal process involved in female pregnancy	IEA	biological_process
GO:0061053	somite development	ISS	biological_process
GO:0001501	skeletal system developme nt	IMP	biological_process
GO:0001947	heart looping	ISS	biological_process
GO:0005113	patched binding	IPI	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005886	plasma membrane	IDA	cellular_component
GO:0007224	smoothened signaling path way	IDA	biological_process
GO:0033085	negative regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0033088	negative regulation of im mature T cell proliferati on in thymus	ISS	biological_process
GO:0033089	positive regulation of T cell differentiation in t hymus	ISS	biological_process
GO:0042733	embryonic digit morphogen esis	IMP	biological_process
GO:0045880	positive regulation of sm oothened signaling pathwa y	ISS	biological_process
GO:0046638	positive regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0046639	negative regulation of al pha-beta T cell different iation	ISS	biological_process
GO:0051216	cartilage development	IMP	biological_process
GO:0061053	somite development	ISS	biological_process

KEGG pathways

hsa05205 Proteoglycans in cancer
hsa04340 Hedgehog signaling pathway

Diseases

Associated diseases	References
Acrocapitofemoral dysplasia	KEGG: H00675, OMIM: 600726
Brachydactyly	KEGG: H00482, OMIM: 600726
Endometriosis	PMID: 21640343
Hirschsprung's disease	PMID: 14651602
Endometriosis	INFBASE21640343

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21640343	Endometrio sis			56 (26 healthy volunteers, 30 women with endo metriosis)	Female infertility	Hedgehog protein	Show abstract