• Gene id: 7043

Gene Summary

• Gene Symbol: TGFB3   Gene   UCSC   Ensembl
• Aliases: ARVD, ARVD1, LDS5, RNHF, TGF-beta3
• Gene name: transforming growth factor beta 3
• Alternate names: transforming growth factor beta-3, prepro-transforming growth factor beta-3,
• Gene location: 14q24.3 (75983010: 75958060)     Exons: 8     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: 190230

SNPs

rs3917158

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

NC_000014.9   g.75978126T>A
NC_000014.9   g.75978126T>C
NC_000014.9   g.75978126T>G
NC_000014.8   g.76444469T>A
NC_000014.8   g.76444469T>C
NC_000014.8   g.76444469T>G
NG_011715.1   g.8624A>T
NG_011715.1   g.8624A>G
NG_011715.1   g.8624A>C|SEQ=[T/A/C/G]|GENE=TGFB3

rs2284792

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

NC_000014.9   g.75977236G>A
NC_000014.9   g.75977236G>C
NC_000014.9   g.75977236G>T
NC_000014.8   g.76443579G>A
NC_000014.8   g.76443579G>C
NC_000014.8   g.76443579G>T
NG_011715.1   g.9514C>T
NG_011715.1   g.9514C>G
NG_011715.1   g.9514C>A|SEQ=[G/A/C/T]|GENE=TGFB3

rs2268626

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

NC_000014.9   g.75978424C>G
NC_000014.9   g.75978424C>T
NC_000014.8   g.76444767C>G
NC_000014.8   g.76444767C>T
NG_011715.1   g.8326G>C
NG_011715.1   g.8326G>A|SEQ=[C/G/T]|GENE=TGFB3

rs2268625

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

NC_000014.9   g.75973291C>G
NC_000014.9   g.75973291C>T
NC_000014.8   g.76439634C>G
NC_000014.8   g.76439634C>T
NG_011715.1   g.13459G>C
NG_011715.1   g.13459G>A|SEQ=[C/G/T]|GENE=TGFB3

rs3917187

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

NC_000014.9   g.75965793T>C
NC_000014.8   g.76432136T>C
NG_011715.1   g.20957A>G|SEQ=[T/C]|GENE=TGFB3

Protein Summary

• Protein general information: P10600  
  • Name: Transforming growth factor beta 3 (TGF beta 3) [Cleaved into: Latency associated peptide (LAP)]
  • Length: 412  
  • Mass: 47,328
  • Tissue specificity: Hair follicles (at protein level). Expressed in all tissues examined including spleen, thymus, prostate, testis, ovary, small intestine, colon, leukocytes, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. High
• Sequence:

  MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPTVMTHVPYQVLALYNS
  TRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNELAVCPKGITSKVFRFNVSSVEKNRTNLFRAE
  FRVLRVPNPSSKRNEQRIELFQILRPDEHIAKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISI
  HCPCHTFQPNGDILENIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKR
  ALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHSTVLGLYNTLNPEASAS
  PCCVPQDLEPLTILYYVGRTPKVEQLSNMVVKSCKCS

• Structural information:
  • Interpro: IPR029034  IPR001839  IPR001111  IPR016319  IPR015615   IPR015618  IPR017948  
  • Prosite: PS00250 PS51362
  • PDB: 1KTZ 1TGJ 1TGK 2PJY 3EO1 4UM9
  • PDBsum: 1KTZ 1TGJ 1TGK 2PJY 3EO1 4UM9
  • DIP: 5937
  • STRING: ENSP00000238682
• Other Databases: GeneCards:  TGFB3  Malacards:  TGFB3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005125	cytokine activity	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007184	SMAD protein import into nucleus	IEA	biological process
GO:0007435	salivary gland morphogenesis	IEP	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0010936	negative regulation of macrophage cytokine production	IDA	biological process
GO:0016049	cell growth	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IEP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030879	mammary gland development	ISS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032570	response to progesterone	IDA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IMP	biological process
GO:0034616	response to laminar fluid shear stress	IEA	biological process
GO:0034713	type I transforming growth factor beta receptor binding	IDA	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0042060	wound healing	IEA	biological process
GO:0042127	regulation of cell proliferation	IBA	biological process
GO:0042476	odontogenesis	NAS	biological process
GO:0042704	uterine wall breakdown	TAS	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0043932	ossification involved in bone remodeling	IEP	biological process
GO:0045216	cell-cell junction organization	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048286	lung alveolus development	ISS	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0060021	palate development	ISS	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060364	frontal suture morphogenesis	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	ISS	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0070483	detection of hypoxia	IDA	biological process
GO:1905005	regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0000187	activation of MAPK activity	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005125	cytokine activity	IBA	molecular function
GO:0005160	transforming growth factor beta receptor binding	IEA	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: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	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	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007184	SMAD protein import into nucleus	IEA	biological process
GO:0007435	salivary gland morphogenesis	IEP	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0010936	negative regulation of macrophage cytokine production	IDA	biological process
GO:0016049	cell growth	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0030501	positive regulation of bone mineralization	IEP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0030879	mammary gland development	ISS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032570	response to progesterone	IDA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IMP	biological process
GO:0034616	response to laminar fluid shear stress	IEA	biological process
GO:0034713	type I transforming growth factor beta receptor binding	IDA	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0040007	growth	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0042127	regulation of cell proliferation	IBA	biological process
GO:0042476	odontogenesis	NAS	biological process
GO:0042704	uterine wall breakdown	TAS	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0043932	ossification involved in bone remodeling	IEP	biological process
GO:0045216	cell-cell junction organization	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0048286	lung alveolus development	ISS	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048702	embryonic neurocranium morphogenesis	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0051781	positive regulation of cell division	IEA	biological process
GO:0060021	palate development	ISS	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060364	frontal suture morphogenesis	IEA	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	ISS	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0070483	detection of hypoxia	IDA	biological process
GO:1905005	regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:0001666	response to hypoxia	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IPI	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IDA	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005114	type II transforming growth factor beta receptor binding	IMP	molecular function
GO:0005125	cytokine activity	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007435	salivary gland morphogenesis	IEP	biological process
GO:0008156	negative regulation of DNA replication	IMP	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0010936	negative regulation of macrophage cytokine production	IDA	biological process
GO:0030501	positive regulation of bone mineralization	IEP	biological process
GO:0030879	mammary gland development	ISS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0032570	response to progesterone	IDA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IMP	biological process
GO:0034713	type I transforming growth factor beta receptor binding	IDA	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0034714	type III transforming growth factor beta receptor binding	IMP	molecular function
GO:0042127	regulation of cell proliferation	IBA	biological process
GO:0042476	odontogenesis	NAS	biological process
GO:0042704	uterine wall breakdown	TAS	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043408	regulation of MAPK cascade	IBA	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0043932	ossification involved in bone remodeling	IEP	biological process
GO:0045216	cell-cell junction organization	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	ISS	biological process
GO:0048286	lung alveolus development	ISS	biological process
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0051491	positive regulation of filopodium assembly	ISS	biological process
GO:0060021	palate development	ISS	biological process
GO:0060325	face morphogenesis	IMP	biological process
GO:0060391	positive regulation of SMAD protein import into nucleus	ISS	biological process
GO:0060395	SMAD protein signal transduction	IBA	biological process
GO:0070483	detection of hypoxia	IDA	biological process
GO:1905005	regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Cancer (ovarian)	GAD: 20628624
Aortic aneurysm	GAD: 19897194
Atherosclerosis	GAD: 20485444
Hypertension	GAD: 15924806
Arrhythmogenic right ventricular cardiomyopathy	KEGG: H00293
Cleft defects	GAD: 16247549
Systemic lupus erythematosus (SLE)	GAD: 18174230
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Albuminuria	GAD: 18293167
Male factor infertility	MIK: 26612435
Pulmonary fibrosis	GAD: 16778279
Pulmonary fibrosis	GAD: 15924806
Keloids	GAD: 16043141
Ossification of the posterior longitudinal ligament of spine	KEGG: H00431
Loeys-Dietz syndrome 5	OMIM: 190230
Isolated orofacial clefts	KEGG: H00516
Male infertility	MIK: 26612435
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26612435	Male infertility	TGFB3 (rs2268626:T?>?C, rs3917158:C?>?T, rs2284792:A?>?G, rs2268625:T?>?C, rs3917187:C?>?T) and TNF (rs1800629:-308G?>?A)	Polish	846 (423 infertile and 423 fertile men)	Male infertility	TNF-?
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)