• Gene id: 652

Gene Summary

• Gene Symbol: BMP4   Gene   UCSC   Ensembl
• Aliases: BMP2B, BMP2B1, MCOPS6, OFC11, ZYME
• Gene name: bone morphogenetic protein 4
• Alternate names: bone morphogenetic protein 4, bone morphogenetic protein 2B,
• Gene location: 14q22.2 (53956890: 53949735)     Exons: 6     NC_000014.9
• Gene summary(Entrez): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
• OMIM: 112262

Protein Summary

• Protein general information: P12644  
  • Name: Bone morphogenetic protein 4 (BMP 4) (Bone morphogenetic protein 2B) (BMP 2B)
  • Length: 408  
  • Mass: 46,555
• Sequence:

  MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSK
  SAVIPDYMRDLYRLQSGEEEEEQIHSTGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPEN
  EVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVSPAVLRWT
  REKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQR
  ARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVP
  TELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR015615  IPR017948  
  • Prosite: PS00250 PS51362
  • DIP: 5795
  • STRING: ENSP00000245451
• Other Databases: GeneCards:  BMP4  Malacards:  BMP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001657	ureteric bud development	IDA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0001958	endochondral ossification	ISS	biological process
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IDA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003014	renal system process	IEA	biological process
GO:0003130	BMP signaling pathway involved in heart induction	IMP	biological process
GO:0003139	secondary heart field specification	IMP	biological process
GO:0003197	endocardial cushion development	TAS	biological process
GO:0003279	cardiac septum development	TAS	biological process
GO:0003323	type B pancreatic cell development	IDA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IDA	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	ISS	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:0005737	cytoplasm	IEA	cellular component
GO:0007182	common-partner SMAD protein phosphorylation	IDA	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007500	mesodermal cell fate determination	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0009791	post-embryonic development	IDA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0010159	specification of animal organ position	IEA	biological process
GO:0010453	regulation of cell fate commitment	IDA	biological process
GO:0010524	positive regulation of calcium ion transport into cytosol	IEA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0021537	telencephalon development	IDA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021978	telencephalon regionalization	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030224	monocyte differentiation	IDA	biological process
GO:0030225	macrophage differentiation	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IDA	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	IMP	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	IMP	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035990	tendon cell differentiation	ISS	biological process
GO:0035993	deltoid tuberosity development	ISS	biological process
GO:0039706	co-receptor binding	IPI	molecular function
GO:0042056	chemoattractant activity	IDA	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0042306	regulation of protein import into nucleus	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042476	odontogenesis	IGI	biological process
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0043587	tongue morphogenesis	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0045606	positive regulation of epidermal cell differentiation	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045778	positive regulation of ossification	IDA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045843	negative regulation of striated muscle tissue development	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	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	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048286	lung alveolus development	IDA	biological process
GO:0048392	intermediate mesodermal cell differentiation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048745	smooth muscle tissue development	ISS	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0050918	positive chemotaxis	IEA	biological process
GO:0051150	regulation of smooth muscle cell differentiation	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0055020	positive regulation of cardiac muscle fiber development	IMP	biological process
GO:0060033	anatomical structure regression	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0060197	cloacal septation	IEA	biological process
GO:0060235	lens induction in camera-type eye	IEA	biological process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological process
GO:0060363	cranial suture morphogenesis	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IDA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060425	lung morphogenesis	IDA	biological process
GO:0060433	bronchus development	IDA	biological process
GO:0060438	trachea development	IDA	biological process
GO:0060440	trachea formation	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IDA	biological process
GO:0060442	branching involved in prostate gland morphogenesis	IEA	biological process
GO:0060449	bud elongation involved in lung branching	IEA	biological process
GO:0060462	lung lobe development	IEA	biological process
GO:0060502	epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060503	bud dilation involved in lung branching	IDA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0060592	mammary gland formation	IEA	biological process
GO:0060684	epithelial-mesenchymal cell signaling	IEA	biological process
GO:0060686	negative regulation of prostatic bud formation	IEA	biological process
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA	biological process
GO:0061036	positive regulation of cartilage development	IDA	biological process
GO:0061047	positive regulation of branching involved in lung morphogenesis	ISS	biological process
GO:0061149	BMP signaling pathway involved in ureter morphogenesis	ISS	biological process
GO:0061151	BMP signaling pathway involved in renal system segmentation	ISS	biological process
GO:0061155	pulmonary artery endothelial tube morphogenesis	IDA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IMP	biological process
GO:0070368	positive regulation of hepatocyte differentiation	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071731	response to nitric oxide	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0071893	BMP signaling pathway involved in nephric duct formation	IDA	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072015	glomerular visceral epithelial cell development	IEA	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072104	glomerular capillary formation	ISS	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:0072138	mesenchymal cell proliferation involved in ureteric bud development	IEA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA	biological process
GO:0072192	ureter epithelial cell differentiation	ISS	biological process
GO:0072193	ureter smooth muscle cell differentiation	ISS	biological process
GO:0072198	mesenchymal cell proliferation involved in ureter development	IEA	biological process
GO:0072200	negative regulation of mesenchymal cell proliferation involved in ureter development	IDA	biological process
GO:0072205	metanephric collecting duct development	ISS	biological process
GO:0090184	positive regulation of kidney development	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090194	negative regulation of glomerulus development	IDA	biological process
GO:0097067	cellular response to thyroid hormone stimulus	IEA	biological process
GO:1901341	positive regulation of store-operated calcium channel activity	IEA	biological process
GO:1902462	positive regulation of mesenchymal stem cell proliferation	IEA	biological process
GO:2000005	negative regulation of metanephric S-shaped body morphogenesis	IDA	biological process
GO:2000007	negative regulation of metanephric comma-shaped body morphogenesis	IDA	biological process
GO:2000105	positive regulation of DNA-dependent DNA replication	IDA	biological process
GO:2000137	negative regulation of cell proliferation involved in heart morphogenesis	IMP	biological process
GO:2000353	positive regulation of endothelial 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	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0001657	ureteric bud development	IDA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0001759	organ induction	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0001958	endochondral ossification	ISS	biological process
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	biological process
GO:0002062	chondrocyte differentiation	IEA	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IEA	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IDA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003014	renal system process	IEA	biological process
GO:0003130	BMP signaling pathway involved in heart induction	IMP	biological process
GO:0003139	secondary heart field specification	IMP	biological process
GO:0003197	endocardial cushion development	TAS	biological process
GO:0003279	cardiac septum development	TAS	biological process
GO:0003323	type B pancreatic cell development	IDA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IDA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	ISS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	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:0005737	cytoplasm	IEA	cellular component
GO:0007182	common-partner SMAD protein phosphorylation	IDA	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007281	germ cell development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007500	mesodermal cell fate determination	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008284	positive regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0009791	post-embryonic development	IDA	biological process
GO:0009888	tissue development	IEA	biological process
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0010159	specification of animal organ position	IEA	biological process
GO:0010453	regulation of cell fate commitment	IDA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010524	positive regulation of calcium ion transport into cytosol	IEA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0021537	telencephalon development	IDA	biological process
GO:0021904	dorsal/ventral neural tube patterning	IEA	biological process
GO:0021978	telencephalon regionalization	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0030224	monocyte differentiation	IDA	biological process
GO:0030225	macrophage differentiation	IDA	biological process
GO:0030324	lung development	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IDA	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	IMP	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	IMP	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035990	tendon cell differentiation	IEA	biological process
GO:0035990	tendon cell differentiation	ISS	biological process
GO:0035993	deltoid tuberosity development	IEA	biological process
GO:0035993	deltoid tuberosity development	ISS	biological process
GO:0039706	co-receptor binding	IPI	molecular function
GO:0040007	growth	IEA	biological process
GO:0042056	chemoattractant activity	IDA	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0042306	regulation of protein import into nucleus	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042476	odontogenesis	IGI	biological process
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0043587	tongue morphogenesis	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0045595	regulation of cell differentiation	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0045606	positive regulation of epidermal cell differentiation	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045778	positive regulation of ossification	IEA	biological process
GO:0045778	positive regulation of ossification	IDA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045843	negative regulation of striated muscle tissue development	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	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	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048286	lung alveolus development	IDA	biological process
GO:0048333	mesodermal cell differentiation	IEA	biological process
GO:0048392	intermediate mesodermal cell differentiation	IDA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0048598	embryonic morphogenesis	IEA	biological process
GO:0048646	anatomical structure formation involved in morphogenesis	IEA	biological process
GO:0048660	regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0048745	smooth muscle tissue development	ISS	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IEA	biological process
GO:0050918	positive chemotaxis	IEA	biological process
GO:0051145	smooth muscle cell differentiation	IEA	biological process
GO:0051150	regulation of smooth muscle cell differentiation	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0055020	positive regulation of cardiac muscle fiber development	IMP	biological process
GO:0060033	anatomical structure regression	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0060197	cloacal septation	IEA	biological process
GO:0060235	lens induction in camera-type eye	IEA	biological process
GO:0060272	embryonic skeletal joint morphogenesis	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0060363	cranial suture morphogenesis	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IDA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IEA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060425	lung morphogenesis	IDA	biological process
GO:0060429	epithelium development	IEA	biological process
GO:0060433	bronchus development	IDA	biological process
GO:0060438	trachea development	IDA	biological process
GO:0060440	trachea formation	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IDA	biological process
GO:0060442	branching involved in prostate gland morphogenesis	IEA	biological process
GO:0060449	bud elongation involved in lung branching	IEA	biological process
GO:0060462	lung lobe development	IEA	biological process
GO:0060502	epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060503	bud dilation involved in lung branching	IDA	biological process
GO:0060512	prostate gland morphogenesis	IEA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0060592	mammary gland formation	IEA	biological process
GO:0060684	epithelial-mesenchymal cell signaling	IEA	biological process
GO:0060686	negative regulation of prostatic bud formation	IEA	biological process
GO:0060687	regulation of branching involved in prostate gland morphogenesis	IEA	biological process
GO:0060688	regulation of morphogenesis of a branching structure	IEA	biological process
GO:0061035	regulation of cartilage development	IEA	biological process
GO:0061036	positive regulation of cartilage development	IDA	biological process
GO:0061047	positive regulation of branching involved in lung morphogenesis	IEA	biological process
GO:0061047	positive regulation of branching involved in lung morphogenesis	ISS	biological process
GO:0061149	BMP signaling pathway involved in ureter morphogenesis	IEA	biological process
GO:0061149	BMP signaling pathway involved in ureter morphogenesis	ISS	biological process
GO:0061151	BMP signaling pathway involved in renal system segmentation	IEA	biological process
GO:0061151	BMP signaling pathway involved in renal system segmentation	ISS	biological process
GO:0061155	pulmonary artery endothelial tube morphogenesis	IDA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IMP	biological process
GO:0070368	positive regulation of hepatocyte differentiation	IEA	biological process
GO:0070372	regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0071731	response to nitric oxide	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IEA	biological process
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0071893	BMP signaling pathway involved in nephric duct formation	IDA	biological process
GO:0072001	renal system development	IEA	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072015	glomerular visceral epithelial cell development	IEA	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072104	glomerular capillary formation	IEA	biological process
GO:0072104	glomerular capillary formation	ISS	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:0072138	mesenchymal cell proliferation involved in ureteric bud development	IEA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA	biological process
GO:0072192	ureter epithelial cell differentiation	IEA	biological process
GO:0072192	ureter epithelial cell differentiation	ISS	biological process
GO:0072193	ureter smooth muscle cell differentiation	IEA	biological process
GO:0072193	ureter smooth muscle cell differentiation	ISS	biological process
GO:0072198	mesenchymal cell proliferation involved in ureter development	IEA	biological process
GO:0072200	negative regulation of mesenchymal cell proliferation involved in ureter development	IDA	biological process
GO:0072205	metanephric collecting duct development	IEA	biological process
GO:0072205	metanephric collecting duct development	ISS	biological process
GO:0090184	positive regulation of kidney development	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090194	negative regulation of glomerulus development	IDA	biological process
GO:0097067	cellular response to thyroid hormone stimulus	IEA	biological process
GO:1901341	positive regulation of store-operated calcium channel activity	IEA	biological process
GO:1902462	positive regulation of mesenchymal stem cell proliferation	IEA	biological process
GO:2000005	negative regulation of metanephric S-shaped body morphogenesis	IDA	biological process
GO:2000007	negative regulation of metanephric comma-shaped body morphogenesis	IDA	biological process
GO:2000105	positive regulation of DNA-dependent DNA replication	IDA	biological process
GO:2000137	negative regulation of cell proliferation involved in heart morphogenesis	IMP	biological process
GO:2000353	positive regulation of endothelial cell apoptotic process	IEA	biological process
GO:2001012	mesenchymal cell differentiation involved in renal system development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0000186	activation of MAPKK activity	IDA	biological process
GO:0001649	osteoblast differentiation	IDA	biological process
GO:0001657	ureteric bud development	IDA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001823	mesonephros development	IEP	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IDA	biological process
GO:0001958	endochondral ossification	ISS	biological process
GO:0002043	blood vessel endothelial cell proliferation involved in sprouting angiogenesis	IDA	biological process
GO:0002062	chondrocyte differentiation	ISS	biological process
GO:0002244	hematopoietic progenitor cell differentiation	IDA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IMP	biological process
GO:0003130	BMP signaling pathway involved in heart induction	IMP	biological process
GO:0003139	secondary heart field specification	IMP	biological process
GO:0003197	endocardial cushion development	TAS	biological process
GO:0003279	cardiac septum development	TAS	biological process
GO:0003323	type B pancreatic cell development	IDA	biological process
GO:0003337	mesenchymal to epithelial transition involved in metanephros morphogenesis	IDA	biological process
GO:0005125	cytokine activity	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IBA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	ISS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	ISS	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007182	common-partner SMAD protein phosphorylation	IDA	biological process
GO:0007224	smoothened signaling pathway	IEP	biological process
GO:0008285	negative regulation of cell proliferation	IDA	biological process
GO:0009791	post-embryonic development	IDA	biological process
GO:0010453	regulation of cell fate commitment	IDA	biological process
GO:0010595	positive regulation of endothelial cell migration	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0010942	positive regulation of cell death	IDA	biological process
GO:0021537	telencephalon development	IDA	biological process
GO:0030224	monocyte differentiation	IDA	biological process
GO:0030225	macrophage differentiation	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IDA	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IMP	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030513	positive regulation of BMP signaling pathway	ISS	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IDA	biological process
GO:0033085	negative regulation of T cell differentiation in thymus	IMP	biological process
GO:0033088	negative regulation of immature T cell proliferation in thymus	IMP	biological process
GO:0034504	protein localization to nucleus	IDA	biological process
GO:0035990	tendon cell differentiation	ISS	biological process
GO:0035993	deltoid tuberosity development	ISS	biological process
GO:0039706	co-receptor binding	IPI	molecular function
GO:0042056	chemoattractant activity	IDA	molecular function
GO:0042306	regulation of protein import into nucleus	IDA	biological process
GO:0042326	negative regulation of phosphorylation	IDA	biological process
GO:0042476	odontogenesis	IGI	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0043401	steroid hormone mediated signaling pathway	IMP	biological process
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0045606	positive regulation of epidermal cell differentiation	IDA	biological process
GO:0045662	negative regulation of myoblast differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IDA	biological process
GO:0045778	positive regulation of ossification	IDA	biological process
GO:0045786	negative regulation of cell cycle	IDA	biological process
GO:0045839	negative regulation of mitotic nuclear division	IDA	biological process
GO:0045843	negative regulation of striated muscle tissue development	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	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	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IGI	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0048286	lung alveolus development	IDA	biological process
GO:0048392	intermediate mesodermal cell differentiation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0048745	smooth muscle tissue development	ISS	biological process
GO:0048754	branching morphogenesis of an epithelial tube	IDA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IDA	biological process
GO:0055020	positive regulation of cardiac muscle fiber development	IMP	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	IDA	biological process
GO:0060393	regulation of pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060425	lung morphogenesis	IDA	biological process
GO:0060433	bronchus development	IDA	biological process
GO:0060438	trachea development	IDA	biological process
GO:0060441	epithelial tube branching involved in lung morphogenesis	IDA	biological process
GO:0060502	epithelial cell proliferation involved in lung morphogenesis	IDA	biological process
GO:0060503	bud dilation involved in lung branching	IDA	biological process
GO:0060548	negative regulation of cell death	IDA	biological process
GO:0061036	positive regulation of cartilage development	IDA	biological process
GO:0061047	positive regulation of branching involved in lung morphogenesis	ISS	biological process
GO:0061149	BMP signaling pathway involved in ureter morphogenesis	ISS	biological process
GO:0061151	BMP signaling pathway involved in renal system segmentation	ISS	biological process
GO:0061155	pulmonary artery endothelial tube morphogenesis	IDA	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	IMP	biological process
GO:0070700	BMP receptor binding	IDA	molecular function
GO:0071773	cellular response to BMP stimulus	IMP	biological process
GO:0071893	BMP signaling pathway involved in nephric duct formation	IDA	biological process
GO:0072001	renal system development	IEP	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072097	negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072101	specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway	IDA	biological process
GO:0072104	glomerular capillary formation	ISS	biological process
GO:0072125	negative regulation of glomerular mesangial cell proliferation	IDA	biological process
GO:0072192	ureter epithelial cell differentiation	ISS	biological process
GO:0072193	ureter smooth muscle cell differentiation	ISS	biological process
GO:0072200	negative regulation of mesenchymal cell proliferation involved in ureter development	IDA	biological process
GO:0072205	metanephric collecting duct development	ISS	biological process
GO:0090184	positive regulation of kidney development	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090191	negative regulation of branching involved in ureteric bud morphogenesis	IDA	biological process
GO:0090194	negative regulation of glomerulus development	IDA	biological process
GO:2000005	negative regulation of metanephric S-shaped body morphogenesis	IDA	biological process
GO:2000007	negative regulation of metanephric comma-shaped body morphogenesis	IDA	biological process
GO:2000105	positive regulation of DNA-dependent DNA replication	IDA	biological process
GO:2000137	negative regulation of cell proliferation involved in heart morphogenesis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04919	Thyroid hormone signaling pathway
hsa05200	Pathways in cancer
hsa05217	Basal cell carcinoma
hsa05418	Fluid shear stress and atherosclerosis

Diseases

Associated diseases	References
Cancer (melanoma)	GAD: 19557432
Cancer (ovarian)	GAD: 20628624
Cancer (colorectal)	GAD: 19011631
Microphthalmia	GAD: 20057906
Hemochromatosis	GAD: 17847004
Neural tube defects	GAD: 12404109
Cleft defects	GAD: 18771417
Anophthalmia and microphthalmia	KEGG: H01027
Anemia	GAD: 20144598
Obesity	GAD: 20734064
Diabetes	GAD: 20546278
Bone diseases	GAD: 16604289
Osteoporosis	GAD: 18551993
Alzheimer's disease	GAD: 19141999
Parkinson disease	GAD: 19915575
Chronic renal failure	GAD: 21085059
Hypospadias	GAD: 17003840
Premature ovarian insufficiency (POI)	INFBASE: 24559233
Female infertility	INFBASE: 24661731
Polycystic ovary syndrome (PCOS)	INFBASE: 23243014
Sertoli cell only syndrome (SCOS)	MIK: 25977194
Endometriosis	INFBASE: 23460397
Calcinosis	GAD: 19453255
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 23503944
Hypospadias	MIK: 31219235
Sertoli cell-only syndrome	MIK: 25977194
Maturation arrest	MIK: 25977194
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25977194	Sertoli cell-only syndrome, maturation arrest				Male infertility
31219235	Hypospadias	c.C751T(p.H251Y)	Chinese	135 cases	Male infertility	NGS
23503944	Azoospermia			200 (100 NOA patients (as cases) and 100 OApatients with normal spermatogenesis (as controls))	Male infertility	Microarray
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray