Endometriosis Knowledgebase

Search Result

Gene id

7042

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TGFB2 Gene UCSC Ensembl

Aliases

G-TSF, LDS4, TGF-beta2

Gene name

transforming growth factor beta 2

Alternate names

transforming growth factor beta-2, BSC-1 cell growth inhibitor, cetermin, glioblastoma-derived T-cell suppressor factor, polyergin, prepro-transforming growth factor beta-2,

Gene location

1q41 (218345333: 218444618) Exons: 8 NC_000001.11

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 gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]

OMIM

190220

Protein Summary

Protein general information

P61812

Name: Transforming growth factor beta 2 (TGF beta 2) (BSC 1 cell growth inhibitor) (Cetermin) (Glioblastoma derived T cell suppressor factor) (G TSF) (Polyergin) [Cleaved into: Latency associated peptide (LAP)]

Length: 414 Mass: 47,748

Sequence

MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEPEEVPPEVISIYNSTR
DLLQEKASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPPTFYRPYFRIVRFDVSAMEKNASNLVKAEFR
VFRLQNPKARVPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLH
CPCCTFVPSNNYIIPNKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRK
KRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINPEAS
ASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS

Structural information

Interpro:	IPR029034 IPR001839 IPR001111 IPR016319 IPR015615 IPR003940 IPR017948
Prosite:	PS00250 PS51362
Pfam:	PF00019 PF00688
PDB:	1TFG 2TGI 4KXZ 5TX4
PDBsum:	1TFG 2TGI 4KXZ 5TX4
DIP:	5936

Other Databases

GeneCards: TGFB2; Malacards: TGFB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000902	cell morphogenesis	IDA	biological_process
GO:0001502	cartilage condensation	IEA	biological_process
GO:0001525	angiogenesis	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001654	eye development	IDA	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001837	epithelial to mesenchymal transition	TAS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001942	hair follicle development	ISS	biological_process
GO:0001942	hair follicle development	IDA	biological_process
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003007	heart morphogenesis	IDA	biological_process
GO:0003179	heart valve morphogenesis	IEA	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0004702	signal transducer, downst ream of receptor, with se rine/threonine kinase act ivity	IDA	molecular_function
GO:0005102	receptor binding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IDA	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor 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:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IDA	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	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0007050	cell cycle arrest	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007184	SMAD protein import into nucleus	IDA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007435	salivary gland morphogene sis	IEP	biological_process
GO:0007507	heart development	IDA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008219	cell death	IDA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008347	glial cell migration	IDA	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009790	embryo development	TAS	biological_process
GO:0010002	cardioblast differentiati on	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010634	positive regulation of ep ithelial cell migration	IDA	biological_process
GO:0010693	negative regulation of al kaline phosphatase activi ty	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0010936	negative regulation of ma crophage cytokine product ion	IDA	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	IDA	biological_process
GO:0016049	cell growth	IEA	biological_process
GO:0016477	cell migration	IDA	biological_process
GO:0023014	signal transduction by pr otein phosphorylation	IEA	biological_process
GO:0030097	hemopoiesis	ISS	biological_process
GO:0030199	collagen fibril organizat ion	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030424	axon	ISS	cellular_component
GO:0030593	neutrophil chemotaxis	ISS	biological_process
GO:0030593	neutrophil chemotaxis	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031069	hair follicle morphogenes is	ISS	biological_process
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032570	response to progesterone	IDA	biological_process
GO:0032874	positive regulation of st ress-activated MAPK casca de	IDA	biological_process
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0032956	regulation of actin cytos keleton organization	IEA	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0042060	wound healing	ISS	biological_process
GO:0042416	dopamine biosynthetic pro cess	ISS	biological_process
GO:0042476	odontogenesis	NAS	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0042637	catagen	IDA	biological_process
GO:0042704	uterine wall breakdown	TAS	biological_process
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0043025	neuronal cell body	ISS	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IDA	biological_process
GO:0045216	cell-cell junction organi zation	IDA	biological_process
GO:0045726	positive regulation of in tegrin biosynthetic proce ss	IDA	biological_process
GO:0045778	positive regulation of os sification	IEP	biological_process
GO:0045787	positive regulation of ce ll cycle	ISS	biological_process
GO:0045823	positive regulation of he art contraction	IDA	biological_process
GO:0046580	negative regulation of Ra s protein signal transduc tion	ISS	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0048103	somatic stem cell divisio n	ISS	biological_process
GO:0048566	embryonic digestive tract development	IEP	biological_process
GO:0048663	neuron fate commitment	IEA	biological_process
GO:0048666	neuron development	ISS	biological_process
GO:0048699	generation of neurons	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IMP	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	IDA	biological_process
GO:0050777	negative regulation of im mune response	TAS	biological_process
GO:0050778	positive regulation of im mune response	ISS	biological_process
GO:0051781	positive regulation of ce ll division	IEA	biological_process
GO:0051795	positive regulation of ca tagen	IDA	biological_process
GO:0051891	positive regulation of ca rdioblast differentiation	IDA	biological_process
GO:0060038	cardiac muscle cell proli feration	IDA	biological_process
GO:0060317	cardiac epithelial to mes enchymal transition	IDA	biological_process
GO:0060325	face morphogenesis	IEA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0061037	negative regulation of ca rtilage development	IEA	biological_process
GO:0070237	positive regulation of ac tivation-induced cell dea th of T cells	IEA	biological_process
GO:0090091	positive regulation of ex tracellular matrix disass embly	IEA	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:1900182	positive regulation of pr otein localization to nuc leus	IEA	biological_process
GO:1904426	positive regulation of GT P binding	IEA	biological_process
GO:1905006	negative regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:1905007	positive regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:1903659	regulation of complement- dependent cytotoxicity	IMP	biological_process
GO:0000902	cell morphogenesis	IDA	biological_process
GO:0001501	skeletal system developme nt	IEA	biological_process
GO:0001502	cartilage condensation	IEA	biological_process
GO:0001525	angiogenesis	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001568	blood vessel development	IEA	biological_process
GO:0001654	eye development	IDA	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001837	epithelial to mesenchymal transition	TAS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001942	hair follicle development	IEA	biological_process
GO:0001942	hair follicle development	ISS	biological_process
GO:0001942	hair follicle development	IDA	biological_process
GO:0001974	blood vessel remodeling	IEA	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003007	heart morphogenesis	IDA	biological_process
GO:0003179	heart valve morphogenesis	IEA	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0004702	signal transducer, downst ream of receptor, with se rine/threonine kinase act ivity	IDA	molecular_function
GO:0005102	receptor binding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IDA	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IEA	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor 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: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	IEA	cellular_component
GO:0005576	extracellular region	IDA	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	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005768	endosome	IEA	cellular_component
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0007050	cell cycle arrest	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007184	SMAD protein import into nucleus	IDA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007411	axon guidance	IEA	biological_process
GO:0007435	salivary gland morphogene sis	IEP	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007507	heart development	IDA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008219	cell death	IDA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008347	glial cell migration	IDA	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009790	embryo development	TAS	biological_process
GO:0010002	cardioblast differentiati on	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010629	negative regulation of ge ne expression	IEA	biological_process
GO:0010634	positive regulation of ep ithelial cell migration	IDA	biological_process
GO:0010693	negative regulation of al kaline phosphatase activi ty	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0010936	negative regulation of ma crophage cytokine product ion	IDA	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	IDA	biological_process
GO:0016049	cell growth	IEA	biological_process
GO:0016477	cell migration	IDA	biological_process
GO:0023014	signal transduction by pr otein phosphorylation	IEA	biological_process
GO:0030097	hemopoiesis	IEA	biological_process
GO:0030097	hemopoiesis	ISS	biological_process
GO:0030198	extracellular matrix orga nization	IEA	biological_process
GO:0030199	collagen fibril organizat ion	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0030424	axon	ISS	cellular_component
GO:0030593	neutrophil chemotaxis	ISS	biological_process
GO:0030593	neutrophil chemotaxis	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031069	hair follicle morphogenes is	IEA	biological_process
GO:0031069	hair follicle morphogenes is	ISS	biological_process
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032570	response to progesterone	IDA	biological_process
GO:0032874	positive regulation of st ress-activated MAPK casca de	IDA	biological_process
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0032956	regulation of actin cytos keleton organization	IEA	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0040007	growth	IEA	biological_process
GO:0042060	wound healing	ISS	biological_process
GO:0042416	dopamine biosynthetic pro cess	IEA	biological_process
GO:0042416	dopamine biosynthetic pro cess	ISS	biological_process
GO:0042476	odontogenesis	NAS	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0042637	catagen	IDA	biological_process
GO:0042704	uterine wall breakdown	TAS	biological_process
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0042981	regulation of apoptotic p rocess	IEA	biological_process
GO:0043025	neuronal cell body	IEA	cellular_component
GO:0043025	neuronal cell body	ISS	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IDA	biological_process
GO:0045216	cell-cell junction organi zation	IDA	biological_process
GO:0045726	positive regulation of in tegrin biosynthetic proce ss	IDA	biological_process
GO:0045778	positive regulation of os sification	IEP	biological_process
GO:0045787	positive regulation of ce ll cycle	IEA	biological_process
GO:0045787	positive regulation of ce ll cycle	ISS	biological_process
GO:0045823	positive regulation of he art contraction	IDA	biological_process
GO:0046580	negative regulation of Ra s protein signal transduc tion	ISS	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0048103	somatic stem cell divisio n	IEA	biological_process
GO:0048103	somatic stem cell divisio n	ISS	biological_process
GO:0048566	embryonic digestive tract development	IEP	biological_process
GO:0048663	neuron fate commitment	IEA	biological_process
GO:0048666	neuron development	IEA	biological_process
GO:0048666	neuron development	ISS	biological_process
GO:0048699	generation of neurons	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IMP	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	IDA	biological_process
GO:0050777	negative regulation of im mune response	TAS	biological_process
GO:0050778	positive regulation of im mune response	ISS	biological_process
GO:0051781	positive regulation of ce ll division	IEA	biological_process
GO:0051795	positive regulation of ca tagen	IDA	biological_process
GO:0051891	positive regulation of ca rdioblast differentiation	IDA	biological_process
GO:0060038	cardiac muscle cell proli feration	IDA	biological_process
GO:0060317	cardiac epithelial to mes enchymal transition	IDA	biological_process
GO:0060325	face morphogenesis	IEA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IEA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0061037	negative regulation of ca rtilage development	IEA	biological_process
GO:0070237	positive regulation of ac tivation-induced cell dea th of T cells	IEA	biological_process
GO:0090091	positive regulation of ex tracellular matrix disass embly	IEA	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:1900182	positive regulation of pr otein localization to nuc leus	IEA	biological_process
GO:1903053	regulation of extracellul ar matrix organization	IEA	biological_process
GO:1904426	positive regulation of GT P binding	IEA	biological_process
GO:1905006	negative regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:1905007	positive regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:2001241	positive regulation of ex trinsic apoptotic signali ng pathway in absence of ligand	IEA	biological_process
GO:1903659	regulation of complement- dependent cytotoxicity	IMP	biological_process
GO:0000902	cell morphogenesis	IDA	biological_process
GO:0001525	angiogenesis	TAS	biological_process
GO:0001540	beta-amyloid binding	IDA	molecular_function
GO:0001654	eye development	IDA	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001837	epithelial to mesenchymal transition	TAS	biological_process
GO:0001837	epithelial to mesenchymal transition	IDA	biological_process
GO:0001942	hair follicle development	ISS	biological_process
GO:0001942	hair follicle development	IDA	biological_process
GO:0002576	platelet degranulation	TAS	biological_process
GO:0003007	heart morphogenesis	IDA	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0004702	signal transducer, downst ream of receptor, with se rine/threonine kinase act ivity	IDA	molecular_function
GO:0005102	receptor binding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IDA	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IPI	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005114	type II transforming grow th factor beta receptor b inding	IMP	molecular_function
GO:0005125	cytokine activity	TAS	molecular_function
GO:0005160	transforming growth facto r beta receptor binding	IDA	molecular_function
GO:0005160	transforming growth facto r beta receptor 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:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IDA	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	IDA	cellular_component
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0007050	cell cycle arrest	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007179	transforming growth facto r beta receptor signaling pathway	IDA	biological_process
GO:0007184	SMAD protein import into nucleus	IDA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0007435	salivary gland morphogene sis	IEP	biological_process
GO:0007507	heart development	IDA	biological_process
GO:0008219	cell death	IDA	biological_process
GO:0008283	cell proliferation	TAS	biological_process
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0008285	negative regulation of ce ll proliferation	IDA	biological_process
GO:0008347	glial cell migration	IDA	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009611	response to wounding	IEP	biological_process
GO:0009790	embryo development	TAS	biological_process
GO:0010002	cardioblast differentiati on	IDA	biological_process
GO:0010634	positive regulation of ep ithelial cell migration	IDA	biological_process
GO:0010693	negative regulation of al kaline phosphatase activi ty	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IDA	biological_process
GO:0010862	positive regulation of pa thway-restricted SMAD pro tein phosphorylation	IBA	biological_process
GO:0010936	negative regulation of ma crophage cytokine product ion	IDA	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	IDA	biological_process
GO:0016477	cell migration	IDA	biological_process
GO:0030097	hemopoiesis	ISS	biological_process
GO:0030199	collagen fibril organizat ion	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030307	positive regulation of ce ll growth	IDA	biological_process
GO:0030308	negative regulation of ce ll growth	IDA	biological_process
GO:0030424	axon	ISS	cellular_component
GO:0030593	neutrophil chemotaxis	ISS	biological_process
GO:0030593	neutrophil chemotaxis	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031069	hair follicle morphogenes is	ISS	biological_process
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032147	activation of protein kin ase activity	IDA	biological_process
GO:0032570	response to progesterone	IDA	biological_process
GO:0032874	positive regulation of st ress-activated MAPK casca de	IDA	biological_process
GO:0032909	regulation of transformin g growth factor beta2 pro duction	IMP	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0033630	positive regulation of ce ll adhesion mediated by i ntegrin	IDA	biological_process
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IPI	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0034714	type III transforming gro wth factor beta receptor binding	IMP	molecular_function
GO:0042060	wound healing	ISS	biological_process
GO:0042416	dopamine biosynthetic pro cess	ISS	biological_process
GO:0042476	odontogenesis	NAS	biological_process
GO:0042493	response to drug	IDA	biological_process
GO:0042637	catagen	IDA	biological_process
GO:0042704	uterine wall breakdown	TAS	biological_process
GO:0042803	protein homodimerization activity	IDA	molecular_function
GO:0043025	neuronal cell body	ISS	cellular_component
GO:0043525	positive regulation of ne uron apoptotic process	IDA	biological_process
GO:0045216	cell-cell junction organi zation	IDA	biological_process
GO:0045726	positive regulation of in tegrin biosynthetic proce ss	IDA	biological_process
GO:0045778	positive regulation of os sification	IEP	biological_process
GO:0045787	positive regulation of ce ll cycle	ISS	biological_process
GO:0045823	positive regulation of he art contraction	IDA	biological_process
GO:0046580	negative regulation of Ra s protein signal transduc tion	ISS	biological_process
GO:0046982	protein heterodimerizatio n activity	TAS	molecular_function
GO:0048103	somatic stem cell divisio n	ISS	biological_process
GO:0048566	embryonic digestive tract development	IEP	biological_process
GO:0048666	neuron development	ISS	biological_process
GO:0048699	generation of neurons	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IMP	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IDA	biological_process
GO:0050714	positive regulation of pr otein secretion	IDA	biological_process
GO:0050777	negative regulation of im mune response	TAS	biological_process
GO:0050778	positive regulation of im mune response	ISS	biological_process
GO:0051795	positive regulation of ca tagen	IDA	biological_process
GO:0051891	positive regulation of ca rdioblast differentiation	IDA	biological_process
GO:0060038	cardiac muscle cell proli feration	IDA	biological_process
GO:0060317	cardiac epithelial to mes enchymal transition	IDA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060389	pathway-restricted SMAD p rotein phosphorylation	IDA	biological_process
GO:0060395	SMAD protein signal trans duction	IBA	biological_process
GO:0097191	extrinsic apoptotic signa ling pathway	IDA	biological_process
GO:1905006	negative regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:1905007	positive regulation of ep ithelial to mesenchymal t ransition involved in end ocardial cushion formatio n	ISS	biological_process
GO:1903659	regulation of complement- dependent cytotoxicity	IMP	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04060  Cytokine-cytokine receptor interaction
hsa05206  MicroRNAs in cancer
hsa05166  HTLV-I infection
hsa05205  Proteoglycans in cancer
hsa04010  MAPK signaling pathway
hsa05152  Tuberculosis
hsa05161  Hepatitis B
hsa04068  FoxO signaling pathway
hsa05145  Toxoplasmosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04144  Endocytosis
hsa05142  Chagas disease
hsa04390  Hippo signaling pathway
hsa04380  Osteoclast differentiation
hsa05323  Rheumatoid arthritis
hsa05321  Inflammatory bowel disease
hsa04110  Cell cycle
hsa05146  Amoebiasis
hsa05140  Leishmaniasis
hsa05220  Chronic myeloid leukemia
hsa05212  Pancreatic cancer
hsa05210  Colorectal cancer
hsa04350  TGF-beta signaling pathway
hsa05144  Malaria
hsa05211  Renal cell carcinoma
hsa05410  Hypertrophic cardiomyopathy
hsa05414  Dilated cardiomyopathy

Diseases

Associated diseases	References
Asthma	PMID: 17651146
Attention-deficit hyperactivity disorder (ADHD)	PMID: 18821565
Cancer	PMID: 16885354
Celiac disease	PMID: 16608413
Cleft lip	PMID: 12030886
Dupuytren's disease	PMID: 11895345
Endometriosis	PMID: 28030938
Keloid disease	PMID: 15009106
Loeys-Dietz syndrome	KEGG: H00800, OMIM: 190220
Peritoneal endometriosis	INFBASE28030938
Osteoporosis	PMID: 17201588
Parkinson's disease	PMID: 17431704
Platelet aggregation	PMID: 17903294
Polycystic ovary syndrome (PCOS)	PMID: 11427921
Pulmonary fibrosis	PMID: 16778279
Systemic lupus erythematosus	PMID: 12064833
Turner Syndrome (TS)	PMID: 22342295

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28030938	Endometrio sis			42 (18 ((n=14; primary � 11, s econdary � 3), suspicion of e ndometriosis (n =7), recurrent miscarriages (n =4) or bilater al occlusion of the fallopian tubes (n=2)), 2 2 in thecontrol group( inferti lity (n=16; pri mary � 13, sec ondary � 3; amo ng them, male f actor � 3), occ lusion of the fallopian tubes (n=11; bilater al � 5, unilate ral � 6), uteri ne fibroids (n =5), recurrent miscarriages (n =3) or suspicio n of endometri osis (n=1)))	Female infertility	MMP2 MMP9 TIMP1 TGFB2	Show abstract