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TGFB3 transforming growth factor beta 3 [ Homo sapiens (human) ]

Gene ID: 7043, updated on 13-Feb-2019

Summary

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Official Symbol
TGFB3provided by HGNC
Official Full Name
transforming growth factor beta 3provided by HGNC
Primary source
HGNC:HGNC:11769
See related
Ensembl:ENSG00000119699 MIM:190230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARVD; LDS5; RNHF; ARVD1; TGF-beta3
Summary
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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
Expression
Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues See more
Orthologs
mouse all

Genomic context

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See TGFB3 in Genome Data Viewer
Location:
14q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (75958061..75983011, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76424440..76449334, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ergosterol biosynthesis 28 homolog Neighboring gene tubulin tyrosine ligase like 5 Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene VISTA enhancer hs2157 Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene intraflagellar transport 43

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Reevaluation of Pluripotent Cytokine TGF-β3 in Immunity. Komai T, et al. Int J Mol Sci, 2018 Aug 1. PMID 30071700, Free PMC Article
  2. Ethnic differences in TGFβ-signaling pathway may contribute to prostate cancer health disparity. Elliott B, et al. Carcinogenesis, 2018 Apr 5. PMID 29474521,
  3. TGFß3 / SfaN1 gene variant and the risk factor of nonsyndromic cleft palate only among Indonesian patients. Nasroen SL, et al. Cell Mol Biol (Noisy-le-grand), 2017 Feb 28. PMID 28364787
  4. Influence of vitamin D and transforming growth factor β3 serum concentrations, obesity, and family history on the risk for uterine fibroids. Ciebiera M, et al. Fertil Steril, 2016 Dec. PMID 27743697
  5. Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Kuechler A, et al. Mol Cell Probes, 2015 Oct. PMID 26184463

See all (212) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. YOD1 RNAi may inhibit cell proliferation and migration associated with the pathogenesis of NSCL/P through TGF-beta3 signaling. The study indicates a novel role of YOD1 in regulating TGF-beta3 signaling to affect cell proliferation and migration resulting in cleft lip with or without cleft palate.
    Title: Targeting YOD1 by RNA Interference Inhibits Proliferation and Migration of Human Oral Keratinocytes through Transforming Growth Factor-<i>β</i>3 Signaling Pathway.
  2. Elevations of TGF-beta3, SMAD2 and SMAD4 in hypertrophic scars and increase of IGF-1R in immature stages may give some clues for acne hypertrophic scar formation.
    Title: Expression of inflammatory and fibrogenetic markers in acne hypertrophic scar formation: focusing on role of TGF-β and IGF-1R.
  3. This review highlights advances in the understanding of the cellular sources, activation processes, contextual determinants, and immunological roles of TGF-beta3 with comparisons to other TGF-beta isoforms.
    Title: Reevaluation of Pluripotent Cytokine TGF-β3 in Immunity.
  4. This study showed that YOD1 overexpression enhances cell migration by promoting TGF-beta3 signaling which may play an important role in lip and palate formation.
    Title: Overexpression of YOD1 Promotes the Migration of Human Oral Keratinocytes by Enhancing TGF-β3 Signaling.
  5. We suggest that increased TGFbeta3 levels are responsible for development of aggressive prostate cancer in African American patients as a consequence of development of resistance to inhibitory effects of TGFbeta on cell proliferation and induction of invasive metastatic behavior
    Title: Ethnic differences in TGFβ-signaling pathway may contribute to prostate cancer health disparity.
  6. data implies that miR-140 is a potent chondrogenic differentiation inducer for iPSCs and also, we have showed increasing chondrogenic differentiation by using overexpression of miR-140 and TGFbeta3.
    Title: Enhanced chondrogenesis differentiation of human induced pluripotent stem cells by MicroRNA-140 and transforming growth factor beta 3 (TGFβ3).
  7. The increase in TGF-beta3 found in inflammatory wound healing (WF) highlights its negative effect on wound healing, while the increased levels of sEng in granulating WF affects the leukocyte adhesion/transmigration through the endothelium, reducing the inflammatory response and favoring the wound healing.
    Title: Chronic Venous Insufficiency: Transforming Growth Factor-β Isoforms and Soluble Endoglin Concentration in Different States of Wound Healing.
  8. Data indicate that TGFb1 and TGFb3, but not TGFb2, showed higher expression levels in invasive breast cancer compared to normal tissues.
    Title: Differential expression of TGFβ isoforms in breast cancer highlights different roles during breast cancer progression.
  9. In nonsyndromic CL+/-P Malay patients,the prevalence of the mutations in the TGFbeta3 gene was 17.7%. For the TGFbeta3 gene, there was no mutation in the coding region in either of the groups.
    Title: Screening of Transforming Growth Factor Beta 3 and Jagged2 Genes in the Malay Population With Nonsyndromic Cleft Lip With or Without Cleft Palate.
  10. Cancer cachexia promotes the development of adipose tissue (AT) fibrosis, in association with altered transforming growth factor-beta (TGFbeta) signaling, compromising AT organization and function.
    Title: Adipose tissue fibrosis in human cancer cachexia: the role of TGFβ pathway.
Submit: New GeneRIF Correction See all GeneRIFs (137)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of transforming growth factor, beta 3 (TGFB3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed
vpu HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to activate release of transforming growth factor beta to culture supernatant, which correlates with increased activity of the AP-1 transcription factor PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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  • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
    AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
  • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ALK1 signaling events, organism-specific biosystem
    ALK1 signaling events
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Cell cycle, organism-specific biosystem (from KEGG)
    Cell cycle, organism-specific biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Cell cycle, conserved biosystem (from KEGG)
    Cell cycle, conserved biosystemMitotic cell cycle progression is accomplished through a reproducible sequence of events, DNA replication (S phase) and mitosis (M phase) separated temporally by gaps known as G1 and G2 phases. Cycli...
  • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
    Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
  • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
    Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Chronic myeloid leukemia, conserved biosystem (from KEGG)
    Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Colorectal cancer, organism-specific biosystem (from KEGG)
    Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Colorectal cancer, conserved biosystem (from KEGG)
    Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
  • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
    Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
  • Differentiation Pathway, organism-specific biosystem (from WikiPathways)
    Differentiation Pathway, organism-specific biosystemThis pathway provides an overview of the directed differentiation molecules used to induce early and derivative cell lineages from human pluripotent stem cells. The initial version of this pathway is...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystem (from WikiPathways)
    Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystemProtein sorting during formation of multivesicular bodies results in packaging of key molecules in exosomes. Exosomes bound-signaling ligands once released from host cells interacts with the receptor...
  • FoxO signaling pathway, organism-specific biosystem (from KEGG)
    FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Hepatitis B, organism-specific biosystem (from KEGG)
    Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypothetical Craniofacial Development Pathway, organism-specific biosystem (from WikiPathways)
    Hypothetical Craniofacial Development Pathway, organism-specific biosystemHypothetical pathway linking cranio-facial development pathway (IRF6, TP63, TFAP2A, and TGFB3) to Rho signaling pathway through ARHGAP29 regulation. Authors of literature suspect that a decrease of A...
  • Inflammatory bowel disease (IBD), organism-specific biosystem (from KEGG)
    Inflammatory bowel disease (IBD), organism-specific biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Inflammatory bowel disease (IBD), conserved biosystem (from KEGG)
    Inflammatory bowel disease (IBD), conserved biosystemInflammatory bowel disease (IBD), which includes Crohn disease (CD) and ulcerative colitis (UC), is characterized by chronic inflammation of the gastrointestinal tract due to environmental and geneti...
  • Leishmaniasis, organism-specific biosystem (from KEGG)
    Leishmaniasis, organism-specific biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • Leishmaniasis, conserved biosystem (from KEGG)
    Leishmaniasis, conserved biosystemLeishmania is an intracellular protozoan parasite of macrophages that causes visceral, mucosal, and cutaneous diseases. The parasite is transmitted to humans by sandflies, where they survive and prol...
  • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
    MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Malaria, organism-specific biosystem (from KEGG)
    Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Malaria, conserved biosystem (from KEGG)
    Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
    Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...
  • Pancreatic cancer, organism-specific biosystem (from KEGG)
    Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pancreatic cancer, conserved biosystem (from KEGG)
    Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystem (from WikiPathways)
    Photodynamic therapy-induced HIF-1 survival signaling, organism-specific biosystemPhotodynamic therapy may induce a hypoxic survival response mediated by HIF-1.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Renal cell carcinoma, organism-specific biosystem (from KEGG)
    Renal cell carcinoma, organism-specific biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Renal cell carcinoma, conserved biosystem (from KEGG)
    Renal cell carcinoma, conserved biosystemRenal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal canc...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
    Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • Rheumatoid arthritis, conserved biosystem (from KEGG)
    Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TGF-beta signaling, organism-specific biosystem (from KEGG)
    TGF-beta signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • TGF-beta signaling, conserved biosystem (from KEGG)
    TGF-beta signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • Toxoplasmosis, organism-specific biosystem (from KEGG)
    Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Toxoplasmosis, conserved biosystem (from KEGG)
    Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Tuberculosis, organism-specific biosystem (from KEGG)
    Tuberculosis, organism-specific biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...
  • Tuberculosis, conserved biosystem (from KEGG)
    Tuberculosis, conserved biosystemTuberculosis, or TB, is an infectious disease caused by Mycobacterium tuberculosis. One third of the world's population is thought to be infected with TB. About 90% of those infected result in latent...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ16571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
  
identical protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
  
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
 PubMed 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
type I transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
type II transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
type II transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
type II transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
type II transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
type III transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
  
aging IEA
Inferred from Electronic Annotation
more info
  
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cell-cell junction organization IDA
Inferred from Direct Assay
more info
 PubMed 
detection of hypoxia IDA
Inferred from Direct Assay
more info
 PubMed 
digestive tract development IEA
Inferred from Electronic Annotation
more info
  
embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
  
face morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
female pregnancy IEA
Inferred from Electronic Annotation
more info
  
frontal suture morphogenesis IEA
Inferred from Electronic Annotation
more info
  
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
  
inner ear development IEA
Inferred from Electronic Annotation
more info
  
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
  
mammary gland development ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of macrophage cytokine production IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
negative regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
negative regulation of vascular smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
odontogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
ossification involved in bone remodeling IEP
Inferred from Expression Pattern
more info
 PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
  
positive regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of bone mineralization IEP
Inferred from Expression Pattern
more info
 PubMed 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
  
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of tight junction disassembly IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
NOT regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
  
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
response to estrogen IEA
Inferred from Electronic Annotation
more info
  
response to hypoxia IDA
Inferred from Direct Assay
more info
 PubMed 
response to laminar fluid shear stress IEA
Inferred from Electronic Annotation
more info
  
response to progesterone IDA
Inferred from Direct Assay
more info
 PubMed 
salivary gland morphogenesis IEP
Inferred from Expression Pattern
more info
 PubMed 
secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
  
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
uterine wall breakdown TAS
Traceable Author Statement
more info
 PubMed 
wound healing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
  
cell surface IEA
Inferred from Electronic Annotation
more info
  
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
 PubMed 
extracellular region TAS
Traceable Author Statement
more info
  
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
neuronal cell body IEA
Inferred from Electronic Annotation
more info
  
nucleus IEA
Inferred from Electronic Annotation
more info
  
plasma membrane IC
Inferred by Curator
more info
 PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
transforming growth factor beta-3 proprotein
Names
prepro-transforming growth factor beta-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011715.1 RefSeqGene

    Range
    4728..28653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_399

mRNA and Protein(s)

  1. NM_001329938.1 → NP_001316867.1  transforming growth factor beta-3 proprotein isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in an early stop codon and a novel 3' UTR compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1.
    Source sequence(s)
    AF107885, BC018503, BM804677, CN417712, DA196236
    Consensus CDS
    CCDS86415.1
    UniProtKB/Swiss-Prot
    P10600
    Related
    ENSP00000451110.1, ENST00000556285.1
    Conserved Domains (1) summary
    pfam00688
    Location:24 → 230
    TGFb_propeptide; TGF-beta propeptide

  2. NM_001329939.1 → NP_001316868.1  transforming growth factor beta-3 proprotein isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF107885, BQ448273
    Consensus CDS
    CCDS9846.1
    UniProtKB/Swiss-Prot
    P10600
    UniProtKB/TrEMBL
    A5YM40
    Conserved Domains (2) summary
    pfam00019
    Location:315 → 411
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:24 → 230
    TGFb_propeptide; TGF-beta propeptide

  3. NM_003239.4 → NP_003230.1  transforming growth factor beta-3 proprotein isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003230.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AK122902, AK313564, BQ448273, CN417712, DA196236
    Consensus CDS
    CCDS9846.1
    UniProtKB/Swiss-Prot
    P10600
    UniProtKB/TrEMBL
    A5YM40, B3KVH9
    Related
    ENSP00000238682.3, ENST00000238682.7
    Conserved Domains (2) summary
    pfam00019
    Location:315 → 411
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:24 → 230
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    75958061..75983011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10600.1 GenPept UniProtKB/Swiss-Prot:P10600

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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