• Gene id: 7042

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 proprotein, BSC-1 cell growth inhibitor, cetermin, glioblastoma-derived T-cell suppressor factor, polyergin, prepro-transforming growth factor beta-2,
• Gene location: 1q41 (218345283: 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
• OMIM: 190220

SNPs

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

Protein Summary

• Protein general information: P61812  
  • Name: Transforming growth factor beta 2 proprotein (Cetermin) (Glioblastoma derived T cell suppressor factor) (G TSF) [Cleaved into: Latency associated peptide (LAP); Transforming growth factor beta 2 (TGF beta 2)]
  • Length: 414  
  • Mass: 47748
• Sequence:

  MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEPEEVPPEVISIYNSTR
  DLLQEKASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPPTFYRPYFRIVRFDVSAMEKNASNLVKAEFR
  VFRLQNPKARVPEQRIELYQILKSKDLTSPTQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLH
  CPCCTFVPSNNYIIPNKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRK
  KRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQHSRVLSLYNTINPEAS
  ASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR016319  IPR015615   IPR003940  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 1TFG 2TGI 4KXZ 5TX4 5TY4 6I9J
  • PDBsum: 1TFG 2TGI 4KXZ 5TX4 5TY4 6I9J
  • DIP: 5936
  • STRING: ENSP00000355896
• Other Databases: GeneCards:  TGFB2  Malacards:  TGFB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001837	epithelial to mesenchymal transition	TAS	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0042127	regulation of cell population proliferation	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0005125	cytokine activity	IBA	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IBA	molecular function
GO:0030509	BMP signaling pathway	IBA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0005114	type II transforming growth factor beta receptor binding	IBA	molecular function
GO:0010936	negative regulation of macrophage cytokine production	IDA	biological process
GO:0048566	embryonic digestive tract development	IEP	biological process
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:0005615	extracellular space	IEA	cellular component
GO:0005160	transforming growth factor beta receptor binding	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:1903659	regulation of complement-dependent cytotoxicity	IMP	NOT|biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IPI	molecular function
GO:0007050	cell cycle arrest	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0008347	glial cell migration	IDA	biological process
GO:0010634	positive regulation of epithelial cell migration	IDA	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0016477	cell migration	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0032570	response to progesterone	IDA	biological process
GO:0032874	positive regulation of stress-activated MAPK cascade	IDA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0033630	positive regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0045216	cell-cell junction organization	IDA	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IDA	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0009611	response to wounding	IEP	biological process
GO:0009611	response to wounding	IEP	biological process
GO:0045778	positive regulation of ossification	IEP	biological process
GO:0050680	negative regulation of epithelial cell proliferation	IMP	biological process
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0001837	epithelial to mesenchymal transition	IDA	biological process
GO:0003007	heart morphogenesis	IDA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0010693	negative regulation of alkaline phosphatase activity	IDA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0030199	collagen fibril organization	IDA	biological process
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0032147	activation of protein kinase activity	IDA	biological process
GO:0045726	positive regulation of integrin biosynthetic process	IDA	biological process
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0097191	extrinsic apoptotic signaling pathway	IDA	biological process
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0001501	skeletal system development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0003407	neural retina development	ISS	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0003274	endocardial cushion fusion	ISS	biological process
GO:0003289	atrial septum primum morphogenesis	ISS	biological process
GO:0061626	pharyngeal arch artery morphogenesis	ISS	biological process
GO:1902256	regulation of apoptotic process involved in outflow tract morphogenesis	ISS	biological process
GO:1905006	negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	ISS	biological process
GO:0060413	atrial septum morphogenesis	ISS	biological process
GO:0007435	salivary gland morphogenesis	IEP	biological process
GO:0042704	uterine wall breakdown	TAS	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0042476	odontogenesis	NAS	biological process
GO:0001843	neural tube closure	ISS	biological process
GO:0008584	male gonad development	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0062009	secondary palate development	ISS	biological process
GO:0060065	uterus development	ISS	biological process
GO:1903701	substantia propria of cornea development	ISS	biological process
GO:1904888	cranial skeletal system development	ISS	biological process
GO:0003149	membranous septum morphogenesis	ISS	biological process
GO:0003179	heart valve morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0046580	negative regulation of Ras protein signal transduction	ISS	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0003181	atrioventricular valve morphogenesis	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0035910	ascending aorta morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0051795	positive regulation of timing of catagen	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0051794	regulation of timing of catagen	IDA	biological process
GO:0001942	hair follicle development	IDA	biological process
GO:0000902	cell morphogenesis	IDA	biological process
GO:0010002	cardioblast differentiation	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0005576	extracellular region	IDA	cellular component
GO:0051891	positive regulation of cardioblast differentiation	IDA	biological process
GO:0045823	positive regulation of heart contraction	IDA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IDA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0005160	transforming growth factor beta receptor binding	IDA	molecular function
GO:0060038	cardiac muscle cell proliferation	IDA	biological process
GO:0042493	response to drug	IDA	biological process
GO:0008219	cell death	IDA	biological process
GO:0007507	heart development	IDA	biological process
GO:0001654	eye development	IDA	biological process
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0042416	dopamine biosynthetic process	ISS	biological process
GO:0030097	hemopoiesis	ISS	biological process
GO:0009792	embryo development ending in birth or egg hatching	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050778	positive regulation of immune response	ISS	biological process
GO:0031069	hair follicle morphogenesis	ISS	biological process
GO:0048666	neuron development	ISS	biological process
GO:0048103	somatic stem cell division	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048699	generation of neurons	TAS	biological process
GO:0045787	positive regulation of cell cycle	ISS	biological process
GO:0042060	wound healing	ISS	biological process
GO:0030593	neutrophil chemotaxis	ISS	biological process
GO:0030424	axon	ISS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0001942	hair follicle development	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa05206	MicroRNAs in cancer
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa05205	Proteoglycans in cancer
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05152	Tuberculosis
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa04110	Cell cycle
hsa04068	FoxO signaling pathway
hsa05414	Dilated cardiomyopathy
hsa04350	TGF-beta signaling pathway
hsa05145	Toxoplasmosis
hsa05410	Hypertrophic cardiomyopathy
hsa05142	Chagas disease
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05146	Amoebiasis
hsa05323	Rheumatoid arthritis
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa05211	Renal cell carcinoma
hsa05140	Leishmaniasis
hsa05321	Inflammatory bowel disease
hsa05144	Malaria

Diseases

Associated diseases	References
Loeys-Dietz syndrome	KEGG:H00800
Loeys-Dietz syndrome	KEGG:H00800
Colon carcinoma	PMID:11166150
colorectal cancer	PMID:15057430
colorectal cancer	PMID:19661324
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)