• Gene id: 6469

Gene Summary

• Gene Symbol: SHH   Gene   UCSC   Ensembl
• Aliases: HHG1, HLP3, HPE3, MCOPCB5, SMMCI, ShhNC, TPT, TPTPS
• Gene name: sonic hedgehog
• Alternate names: sonic hedgehog protein, shh unprocessed N-terminal signaling and C-terminal autoprocessing domains, sonic hedgehog homolog,
• Gene location: 7q36.3 (155812272: 155799983)     Exons: 8     NC_000007.14
• Gene summary(Entrez): This gene encodes a protein that is instrumental in patterning the early embryo. It has been implicated as the key inductive signal in patterning of the ventral neural tube, the anterior-posterior limb axis, and the ventral somites. Of three human protein
• OMIM: 600725

Protein Summary

• Protein general information: Q15465  
  • Name: Sonic hedgehog protein (SHH) (HHG 1) (Shh unprocessed N terminal signaling and C terminal autoprocessing domains) (ShhNC) [Cleaved into: Sonic hedgehog protein N product (ShhN) (Shh N terminal processed signaling domains) (ShhNp)]
  • Length: 462  
  • Mass: 49,607
• Sequence:

  MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNSERFKE
  LTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITT
  SDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQGGTKLVKDLSPGDRVL
  AADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDSATGEPEASSGSGPPSGGALG
  PRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSEEAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHR
  AFAPFRLAHALLAALAPARTDRGGDSGGGDRGGGGGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSE
  ALHPLGMAVKSS

• Structural information:
  • Interpro: IPR001657  IPR009045  IPR000320  IPR001767  IPR003586   IPR003587  IPR036844  IPR006141  
  • Prosite: PS50817
  • PDB: 3HO5 3M1N 3MXW
  • PDBsum: 3HO5 3M1N 3MXW
  • DIP: 61763
  • STRING: ENSP00000297261
• Other Databases: GeneCards:  SHH  Malacards:  SHH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001755	neural crest cell migration	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0001948	glycoprotein binding	IEA	molecular function
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	ISS	biological process
GO:0005113	patched binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0007228	positive regulation of hh target transcription factor activity	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007405	neuroblast proliferation	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007418	ventral midline development	TAS	biological process
GO:0007442	hindgut morphogenesis	IEA	biological process
GO:0007507	heart development	ISS	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0008209	androgen metabolic process	ISS	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008284	positive regulation of cell proliferation	ISS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0009790	embryo development	ISS	biological process
GO:0009880	embryonic pattern specification	TAS	biological process
GO:0009949	polarity specification of anterior/posterior axis	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0014706	striated muscle tissue development	IEA	biological process
GO:0014858	positive regulation of skeletal muscle cell proliferation	IEA	biological process
GO:0014902	myotube differentiation	IEA	biological process
GO:0016015	morphogen activity	TAS	molecular function
GO:0016015	morphogen activity	NAS	molecular function
GO:0016539	intein-mediated protein splicing	IEA	biological process
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	ISS	biological process
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA	biological process
GO:0021978	telencephalon regionalization	IEA	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0030162	regulation of proteolysis	ISS	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0030324	lung development	ISS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0030539	male genitalia development	ISS	biological process
GO:0030850	prostate gland development	ISS	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0030901	midbrain development	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0033092	positive regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0034504	protein localization to nucleus	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0042127	regulation of cell proliferation	ISS	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042481	regulation of odontogenesis	ISS	biological process
GO:0042733	embryonic digit morphogenesis	ISS	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0043237	laminin-1 binding	ISS	molecular function
GO:0043369	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	biological process
GO:0045059	positive thymic T cell selection	ISS	biological process
GO:0045060	negative thymic T cell selection	ISS	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0045445	myoblast differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0048468	cell development	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0048643	positive regulation of skeletal muscle tissue development	IEA	biological process
GO:0048645	animal organ formation	IEA	biological process
GO:0048663	neuron fate commitment	ISS	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	ISS	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0048864	stem cell development	ISS	biological process
GO:0051155	positive regulation of striated muscle cell differentiation	IEA	biological process
GO:0051781	positive regulation of cell division	IDA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0060021	palate development	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0060428	lung epithelium development	IEA	biological process
GO:0060439	trachea morphogenesis	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060447	bud outgrowth involved in lung branching	IEA	biological process
GO:0060458	right lung development	IEA	biological process
GO:0060459	left lung development	IEA	biological process
GO:0060463	lung lobe morphogenesis	IEA	biological process
GO:0060484	lung-associated mesenchyme development	IEA	biological process
GO:0060516	primary prostatic bud elongation	IEA	biological process
GO:0060523	prostate epithelial cord elongation	IEA	biological process
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0060664	epithelial cell proliferation involved in salivary gland morphogenesis	IEA	biological process
GO:0060685	regulation of prostatic bud formation	IEA	biological process
GO:0060738	epithelial-mesenchymal signaling involved in prostate gland development	IDA	biological process
GO:0060769	positive regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0060782	regulation of mesenchymal cell proliferation involved in prostate gland development	IEA	biological process
GO:0060783	mesenchymal smoothened signaling pathway involved in prostate gland development	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0060916	mesenchymal cell proliferation involved in lung development	IEA	biological process
GO:0061053	somite development	ISS	biological process
GO:0061189	positive regulation of sclerotome development	IDA	biological process
GO:0071285	cellular response to lithium ion	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	ISS	biological process
GO:0080125	obsolete multicellular structure septum development	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0090370	negative regulation of cholesterol efflux	ISS	biological process
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:1900175	regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS	biological process
GO:1900180	regulation of protein localization to nucleus	IDA	biological process
GO:1904339	negative regulation of dopaminergic neuron differentiation	IEA	biological process
GO:2000062	negative regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000063	positive regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000357	negative regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000358	positive regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	ISS	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001755	neural crest cell migration	ISS	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0001947	heart looping	ISS	biological process
GO:0001948	glycoprotein binding	IEA	molecular function
GO:0002052	positive regulation of neuroblast proliferation	IEA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	IEA	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	ISS	biological process
GO:0005113	patched binding	IEA	molecular function
GO:0005113	patched binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005539	glycosaminoglycan binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005622	intracellular	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0007228	positive regulation of hh target transcription factor activity	IEA	biological process
GO:0007228	positive regulation of hh target transcription factor activity	ISS	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0007267	cell-cell signaling	IEA	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0007398	ectoderm development	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0007405	neuroblast proliferation	ISS	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0007417	central nervous system development	IEA	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007418	ventral midline development	TAS	biological process
GO:0007418	ventral midline development	TAS	biological process
GO:0007442	hindgut morphogenesis	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007507	heart development	ISS	biological process
GO:0007596	blood coagulation	IEA	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	ISS	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008283	cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell proliferation	ISS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0009790	embryo development	ISS	biological process
GO:0009880	embryonic pattern specification	TAS	biological process
GO:0009949	polarity specification of anterior/posterior axis	IEA	biological process
GO:0009949	polarity specification of anterior/posterior axis	ISS	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0010463	mesenchymal cell proliferation	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0014706	striated muscle tissue development	IEA	biological process
GO:0014858	positive regulation of skeletal muscle cell proliferation	IEA	biological process
GO:0014902	myotube differentiation	IEA	biological process
GO:0016015	morphogen activity	TAS	molecular function
GO:0016015	morphogen activity	NAS	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016539	intein-mediated protein splicing	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0021513	spinal cord dorsal/ventral patterning	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0021794	thalamus development	IEA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	IEA	biological process
GO:0021930	cerebellar granule cell precursor proliferation	ISS	biological process
GO:0021938	smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA	biological process
GO:0021940	positive regulation of cerebellar granule cell precursor proliferation	IEA	biological process
GO:0021978	telencephalon regionalization	IEA	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0030162	regulation of proteolysis	IEA	biological process
GO:0030162	regulation of proteolysis	ISS	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IEA	biological process
GO:0030323	respiratory tube development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030324	lung development	ISS	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030539	male genitalia development	ISS	biological process
GO:0030850	prostate gland development	IEA	biological process
GO:0030850	prostate gland development	ISS	biological process
GO:0030878	thyroid gland development	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0030901	midbrain development	ISS	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0031069	hair follicle morphogenesis	IEA	biological process
GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0033077	T cell differentiation in thymus	IEA	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	IEA	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0033092	positive regulation of immature T cell proliferation in thymus	IEA	biological process
GO:0033092	positive regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0034244	negative regulation of transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0034504	protein localization to nucleus	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0042127	regulation of cell proliferation	IEA	biological process
GO:0042127	regulation of cell proliferation	ISS	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0042307	positive regulation of protein import into nucleus	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042481	regulation of odontogenesis	IEA	biological process
GO:0042481	regulation of odontogenesis	ISS	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042733	embryonic digit morphogenesis	ISS	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0043237	laminin-1 binding	IEA	molecular function
GO:0043237	laminin-1 binding	ISS	molecular function
GO:0043369	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA	biological process
GO:0043369	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	biological process
GO:0043588	skin development	IEA	biological process
GO:0045059	positive thymic T cell selection	IEA	biological process
GO:0045059	positive thymic T cell selection	ISS	biological process
GO:0045060	negative thymic T cell selection	IEA	biological process
GO:0045060	negative thymic T cell selection	ISS	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0045121	membrane raft	ISS	cellular component
GO:0045165	cell fate commitment	IEA	biological process
GO:0045445	myoblast differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	ISS	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IEA	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0046639	negative regulation of alpha-beta T cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048468	cell development	IEA	biological process
GO:0048468	cell development	ISS	biological process
GO:0048538	thymus development	IEA	biological process
GO:0048538	thymus development	ISS	biological process
GO:0048546	digestive tract morphogenesis	IEA	biological process
GO:0048557	embryonic digestive tract morphogenesis	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0048617	embryonic foregut morphogenesis	IEA	biological process
GO:0048643	positive regulation of skeletal muscle tissue development	IEA	biological process
GO:0048645	animal organ formation	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048663	neuron fate commitment	ISS	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IEA	biological process
GO:0048754	branching morphogenesis of an epithelial tube	ISS	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0048864	stem cell development	IEA	biological process
GO:0048864	stem cell development	ISS	biological process
GO:0051146	striated muscle cell differentiation	IEA	biological process
GO:0051155	positive regulation of striated muscle cell differentiation	IEA	biological process
GO:0051781	positive regulation of cell division	IDA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0060021	palate development	IEA	biological process
GO:0060070	canonical Wnt signaling pathway	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0060425	lung morphogenesis	IEA	biological process
GO:0060428	lung epithelium development	IEA	biological process
GO:0060438	trachea development	IEA	biological process
GO:0060439	trachea morphogenesis	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0060442	branching involved in prostate gland morphogenesis	IEA	biological process
GO:0060445	branching involved in salivary gland morphogenesis	IEA	biological process
GO:0060447	bud outgrowth involved in lung branching	IEA	biological process
GO:0060458	right lung development	IEA	biological process
GO:0060459	left lung development	IEA	biological process
GO:0060463	lung lobe morphogenesis	IEA	biological process
GO:0060484	lung-associated mesenchyme development	IEA	biological process
GO:0060516	primary prostatic bud elongation	IEA	biological process
GO:0060523	prostate epithelial cord elongation	IEA	biological process
GO:0060662	salivary gland cavitation	IEA	biological process
GO:0060664	epithelial cell proliferation involved in salivary gland morphogenesis	IEA	biological process
GO:0060684	epithelial-mesenchymal cell signaling	IEA	biological process
GO:0060685	regulation of prostatic bud formation	IEA	biological process
GO:0060738	epithelial-mesenchymal signaling involved in prostate gland development	IEA	biological process
GO:0060738	epithelial-mesenchymal signaling involved in prostate gland development	IDA	biological process
GO:0060768	regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0060769	positive regulation of epithelial cell proliferation involved in prostate gland development	IEA	biological process
GO:0060782	regulation of mesenchymal cell proliferation involved in prostate gland development	IEA	biological process
GO:0060783	mesenchymal smoothened signaling pathway involved in prostate gland development	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0060916	mesenchymal cell proliferation involved in lung development	IEA	biological process
GO:0061053	somite development	IEA	biological process
GO:0061053	somite development	ISS	biological process
GO:0061189	positive regulation of sclerotome development	IDA	biological process
GO:0071285	cellular response to lithium ion	IEA	biological process
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	IEA	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	ISS	biological process
GO:0080125	obsolete multicellular structure septum development	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0090370	negative regulation of cholesterol efflux	IEA	biological process
GO:0090370	negative regulation of cholesterol efflux	ISS	biological process
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:1900175	regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS	biological process
GO:1900180	regulation of protein localization to nucleus	IDA	biological process
GO:1904339	negative regulation of dopaminergic neuron differentiation	IEA	biological process
GO:2000062	negative regulation of ureter smooth muscle cell differentiation	IEA	biological process
GO:2000062	negative regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000063	positive regulation of ureter smooth muscle cell differentiation	IEA	biological process
GO:2000063	positive regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000357	negative regulation of kidney smooth muscle cell differentiation	IEA	biological process
GO:2000357	negative regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000358	positive regulation of kidney smooth muscle cell differentiation	IEA	biological process
GO:2000358	positive regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	IEA	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	ISS	biological process
GO:2001054	negative regulation of mesenchymal cell apoptotic process	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	ISS	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001755	neural crest cell migration	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003140	determination of left/right asymmetry in lateral mesoderm	ISS	biological process
GO:0005113	patched binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007224	smoothened signaling pathway	ISS	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0007228	positive regulation of hh target transcription factor activity	ISS	biological process
GO:0007267	cell-cell signaling	ISS	biological process
GO:0007389	pattern specification process	ISS	biological process
GO:0007405	neuroblast proliferation	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0007417	central nervous system development	ISS	biological process
GO:0007418	ventral midline development	TAS	biological process
GO:0007418	ventral midline development	TAS	biological process
GO:0007507	heart development	ISS	biological process
GO:0008209	androgen metabolic process	ISS	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008284	positive regulation of cell proliferation	ISS	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0009790	embryo development	ISS	biological process
GO:0009880	embryonic pattern specification	TAS	biological process
GO:0009949	polarity specification of anterior/posterior axis	ISS	biological process
GO:0009953	dorsal/ventral pattern formation	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0016015	morphogen activity	TAS	molecular function
GO:0016015	morphogen activity	NAS	molecular function
GO:0021930	cerebellar granule cell precursor proliferation	ISS	biological process
GO:0030162	regulation of proteolysis	ISS	biological process
GO:0030324	lung development	ISS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0030336	negative regulation of cell migration	ISS	biological process
GO:0030539	male genitalia development	ISS	biological process
GO:0030850	prostate gland development	ISS	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0030901	midbrain development	ISS	biological process
GO:0030902	hindbrain development	ISS	biological process
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0033089	positive regulation of T cell differentiation in thymus	ISS	biological process
GO:0033092	positive regulation of immature T cell proliferation in thymus	ISS	biological process
GO:0042127	regulation of cell proliferation	ISS	biological process
GO:0042481	regulation of odontogenesis	ISS	biological process
GO:0042733	embryonic digit morphogenesis	ISS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0043237	laminin-1 binding	ISS	molecular function
GO:0043369	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IDA	biological process
GO:0045059	positive thymic T cell selection	ISS	biological process
GO:0045060	negative thymic T cell selection	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0045596	negative regulation of cell differentiation	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	ISS	biological process
GO:0045880	positive regulation of smoothened signaling pathway	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046638	positive regulation of alpha-beta T cell differentiation	ISS	biological process
GO:0048468	cell development	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0048663	neuron fate commitment	ISS	biological process
GO:0048754	branching morphogenesis of an epithelial tube	ISS	biological process
GO:0048864	stem cell development	ISS	biological process
GO:0051781	positive regulation of cell division	IDA	biological process
GO:0060738	epithelial-mesenchymal signaling involved in prostate gland development	IDA	biological process
GO:0061053	somite development	ISS	biological process
GO:0061189	positive regulation of sclerotome development	IDA	biological process
GO:0071542	dopaminergic neuron differentiation	TAS	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072136	metanephric mesenchymal cell proliferation involved in metanephros development	ISS	biological process
GO:0090370	negative regulation of cholesterol efflux	ISS	biological process
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:1900175	regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	NAS	biological process
GO:1900180	regulation of protein localization to nucleus	IDA	biological process
GO:2000062	negative regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000063	positive regulation of ureter smooth muscle cell differentiation	ISS	biological process
GO:2000357	negative regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000358	positive regulation of kidney smooth muscle cell differentiation	ISS	biological process
GO:2000729	positive regulation of mesenchymal cell proliferation involved in ureter development	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance
hsa05200	Pathways in cancer
hsa05205	Proteoglycans in cancer
hsa05226	Gastric cancer
hsa05217	Basal cell carcinoma

Diseases

Associated diseases	References
Cancer (thyroid)	GAD: 19730683
Basal cell carcinoma	KEGG: H00039
Anorectal malformations	GAD: 18655123
Microphthalmia	OMIM: 600725
Holoprosencephaly	OMIM: 12709790
Schizencephaly	OMIM: 600725
Cleft defects	GAD: 20634891
Anophthalmia and microphthalmia	KEGG: H01027
Platelet aggregation	GAD: 20526338
Bone diseases	GAD: 19453261
Parkinson disease	GAD: 15249145
Mental disorder	GAD: 20889312
Chronic renal failure	GAD: 21085059
Cryptorchidism	MIK: 24567355
Oral clefts	GAD: 11857543
Solitary median maxillary central incisor syndrome	KEGG: H00652
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 24567355
Azoospermia	MIK: 24567355
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24567355	Cryptorchid man with azoospermia			1 patient with crytorchidism	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray