TGFB3 - transforming growth factor beta 3 Gene
Also Known as ARVD; LDS5; RNHF; ARVD1; TGF-beta3
Species: Homo sapiens
About TGFB3
This gene has 7 transcripts (splice variants), 266 orthologues, 31 paralogues and is associated with 7 phenotypes. Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues.
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]
TGFB3 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001329938.2 | NP_001316867.1 | transforming growth factor beta-3 proprotein isoform 2 precursor |
| NM_001329939.2 | NP_001316868.1 | transforming growth factor beta-3 proprotein isoform 1 preproprotein |
| NM_003239.5 | NP_003230.1 | transforming growth factor beta-3 proprotein isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
18243111 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
19073914 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1326540 | GOA |
| enables transforming growth factor beta binding |
IDA
IDA: Inferred from direct assay
|
18243111 | GOA |
| enables type I transforming growth factor beta receptor binding |
IDA
IDA: Inferred from direct assay
|
18243111 | GOA |
| enables type II transforming growth factor beta receptor binding |
IDA
IDA: Inferred from direct assay
|
11157754 | GOA |
| enables type II transforming growth factor beta receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
8167376 | GOA |
| enables type II transforming growth factor beta receptor binding |
IPI
IPI: Inferred from physical interaction
|
1333888 | GOA |
| enables type III transforming growth factor beta receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
8167376 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in collagen-containing extracellular matrix |
IDA
IDA: Inferred from direct assay
|
18049952 | GOA |
TGFB3 Protein Structure
TGFb_propeptide: TGF-beta propeptide (23 - 225)
TGF_beta: Transforming growth factor beta like domain (313 - 412)
- 0
- 100
- 200
- 300
- 412 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transforming growth factor beta-3 proprotein |
|
TGFB3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TGFB3 | P10600 | ZMYM3 | Homo sapiens | Q14202 | 30021884 | |
|
Intra
|
TGFB3 | P10600 | TGFBR3 | Homo sapiens | Q03167 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR2 | Homo sapiens | P37173 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | SDC4 | Homo sapiens | P31431 | 21988832 | |
|
Intra
|
TGFB3 | P10600 | TGFBR1 | Homo sapiens | P36897 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR2 | Homo sapiens | P37173 | 11850637 | |
|
Intra
|
TGFB3 | P10600 | TGFBR1 | Homo sapiens | P36897 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR1 | Homo sapiens | P36897 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFB3 | Homo sapiens | P10600 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR2 | Homo sapiens | P37173 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFB3 | Homo sapiens | P10600 | 19073914 | |
|
Intra
|
TGFB3 | P10600 | TGFBR2 | Homo sapiens | P37173 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR1 | Homo sapiens | P36897 | 21423151 | |
|
Intra
|
TGFB3 | P10600 | TGFBR2 | Homo sapiens | P37173 | 21423151 |
Recombinant TGFB3 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7120 | TGF beta 3/TGFB3 Protein, Human (HEK293) | P10600-1 (A301-S412) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P78802 | Latent TGF beta 3/Latent TGFB3 Protein, Human (Biotinylated, HEK293, His-Avi) | P10600-1 (L24-S412) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P700152AF | Animal-Free TGF beta 3/TGFB3 Protein, Human (His) | P10600-1 (A301-S412) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700786 | TGF beta 3/TGFB3 Protein, Human (Biotinylated, HEK293, Avi) | P10600-1 (A301-S412) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P700890 | Latent TGF beta 3/Latent TGFB3 Protein, Human (HEK293, His) | P10600-1 (L24-S412) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P701080 | Latent TGF beta 3/Latent TGFB3 Protein, Human (Biotinylated, HEK293, His) | P10600-1 (L24-S412) | ≥ 95%, as determined by reducing SDS-PAGE. |
TGFB3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P86472 | TGF beta 1/TGF beta 3 Antibody (YA6164) | WB, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P87104 | TGF beta 3 Antibody (YA6797) | WB, ICC/IF, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Loeys-Dietz Syndrome 5 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
|
| Loeys-Dietz Syndrome 4 |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Cleft Lip |
|
|
| Loeys-Dietz Syndrome |
|
|
| Mitral Valve Disease |
|
|
| Mucositis |
|
|
| Leiomyoma |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Bullous Keratopathy |
|
|
| Aortic Dissection |
|
|
| Acute Diffuse Nephritis |
|
|
| Cleft Palate, Isolated |
|
|
| Heart Disease |
|
|
| Venous Insufficiency |
|
|
| Hellp Syndrome |
|
|
| Aortic Valve Disease 1 |
|
|
| Loeys-Dietz Syndrome 3 |
|
|
| Pre-Eclampsia |
|
|
| Renal Fibrosis |
|
|
| Fibrochondrogenesis |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
|
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
|
| Tooth Agenesis |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
|
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
|
| Naxos Disease |
|
|
| Clubfoot |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
|
| Aortic Aneurysm |
|
|
| Van Der Woude Syndrome |
|
|
| Colorectal Cancer |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
|
| Orofacial Cleft |
|
|
| Neural Tube Defects |
|
|
| Tracheal Stenosis |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
|
| Breast Cancer |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic |
|
|
| Popliteal Pterygium Syndrome |
|
|
| Tricuspid Valve Prolapse |
|
|
| Cataract |
|
|
| Ovarian Cancer |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Uterine Benign Neoplasm |
|
|
| Cartilage Disease |
|
|
| Cleft Soft Palate |
|
|
| Myopia |
|
|
| Endometrial Cancer |
|
|
| Reproductive Organ Benign Neoplasm |
|
|
| Spastic Paraplegia 76, Autosomal Recessive |
|
|
| Familial Woolly Hair Syndrome |
|
|
| Cardiac Tuberculosis |
|
|
| Orthostatic Intolerance |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Thrombocytopenia |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Craniosynostosis |
|
|
| Interstitial Lung Disease 2 |
|
|
| Osteochondrodysplasia |
|
|
| Brittle Bone Disorder |
|
|
| Dilated Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TGFB3 | VGNC | VGNC:35803 |
| Rattus norvegicus | TGFB3 | RGD | RGD:3851 |
| Canis familiaris | TGFB3 | VGNC | VGNC:47310 |
| Macaca mulatta | TGFB3 | VGNC | VGNC:78335 |
| Mus musculus | TGFB3 | MGD | MGI:98727 |
| Felis catus | TGFB3 | VGNC | VGNC:66133 |
| Others | TGFB3 | NCBI |