Human Gene TGFB3 (ENST00000238682.8) from GENCODE V44
  Description: Homo sapiens transforming growth factor beta 3 (TGFB3), transcript variant 1, mRNA. (from RefSeq NM_003239)
RefSeq Summary (NM_003239): 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].
Gencode Transcript: ENST00000238682.8
Gencode Gene: ENSG00000119699.8
Transcript (Including UTRs)
   Position: hg38 chr14:75,958,097-75,981,995 Size: 23,899 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr14:75,959,187-75,980,893 Size: 21,707 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:75,958,097-75,981,995)mRNA (may differ from genome)Protein (412 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGFB3_HUMAN
DESCRIPTION: RecName: Full=Transforming growth factor beta-3; Short=TGF-beta-3; Flags: Precursor;
FUNCTION: Involved in embryogenesis and cell differentiation.
SUBUNIT: Homodimer; disulfide-linked. Interacts with ASPN.
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in TGFB3 are a cause of familial arrhythmogenic right ventricular dysplasia type 1 (ARVD1) [MIM:107970]; also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1). ARVD is an autosomal dominant disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall.
SIMILARITY: Belongs to the TGF-beta family.
SEQUENCE CAUTION: Sequence=CAA33024.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFB3";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb3/";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tgfb3/";
WEB RESOURCE: Name=Wikipedia; Note=TGF beta-3 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_3";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TGFB3
Diseases sorted by gene-association score: loeys-dietz syndrome 5* (1229), arrhythmogenic right ventricular dysplasia 1* (937), tgfb3-related loeys-dietz syndrome* (500), loeys-dietz syndrome 4* (283), tgfb2-related loeys-dietz syndrome* (283), familial isolated arrhythmogenic ventricular dysplasia, right dominant form* (202), familial isolated arrhythmogenic ventricular dysplasia, biventricular form* (202), familial isolated arrhythmogenic ventricular dysplasia, left dominant form* (202), arrhythmogenic right ventricular dysplasia/cardiomyopathy 1* (100), loeys-dietz syndrome (22), colon carcinoma in situ (17), acute diffuse nephritis (16), cleft lip (15), mucositis (12), leiomyoma (11), cleft palate, isolated (10), diffuse glomerulonephritis (10), keloids (10), peyronie's disease (10), gastroschisis (9), arrhythmogenic right ventricular cardiomyopathy (8), multilocular clear cell renal cell carcinoma (7), tuberculoid leprosy (7), hypertrophic scars (7), tooth agenesis (7), bamforth-lazarus syndrome (7), cocoon syndrome (7), arrhythmogenic right ventricular dysplasia 8 (6), bullous keratopathy (6), arrhythmogenic right ventricular dysplasia 9 (6), juvenile nasopharyngeal angiofibroma (6), bifid uvula (6), mitral valve disease (5), synovial chondromatosis (5), uterine fibroid (5), hypochondrogenesis (5), uterine benign neoplasm (5), distal arthrogryposis (5), reproductive organ benign neoplasm (4), enchondromatosis, multiple, ollier type (4), thrombocytopenia-absent radius syndrome (4), heart disease (2), orofacial cleft (2), physical disorder (2), colorectal cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.45 RPKM in Prostate
Total median expression: 428.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -370.001102-0.336 Picture PostScript Text
3' UTR -346.601090-0.318 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR016319 - TGF-beta
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS
IPR015618 - Transform_grow_fac_b3

Pfam Domains:
PF00019 - Transforming growth factor beta like domain
PF00688 - TGF-beta propeptide

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1KTZ - X-ray MuPIT 1TGJ - X-ray MuPIT 1TGK - X-ray MuPIT 2PJY - X-ray MuPIT 3EO1 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P10600
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005114 type II transforming growth factor beta receptor binding
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0034713 type I transforming growth factor beta receptor binding
GO:0034714 type III transforming growth factor beta receptor binding
GO:0042802 identical protein binding
GO:0046982 protein heterodimerization activity
GO:0050431 transforming growth factor beta binding

Biological Process:
GO:0000187 activation of MAPK activity
GO:0001666 response to hypoxia
GO:0001701 in utero embryonic development
GO:0002576 platelet degranulation
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007435 salivary gland morphogenesis
GO:0007565 female pregnancy
GO:0007568 aging
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0010469 regulation of receptor activity
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0010936 negative regulation of macrophage cytokine production
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030879 mammary gland development
GO:0032570 response to progesterone
GO:0032967 positive regulation of collagen biosynthetic process
GO:0034616 response to laminar fluid shear stress
GO:0042060 wound healing
GO:0042476 odontogenesis
GO:0042704 uterine wall breakdown
GO:0042981 regulation of apoptotic process
GO:0043065 positive regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0043524 negative regulation of neuron apoptotic process
GO:0043627 response to estrogen
GO:0043932 ossification involved in bone remodeling
GO:0045216 cell-cell junction organization
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048286 lung alveolus development
GO:0048468 cell development
GO:0048565 digestive tract development
GO:0048702 embryonic neurocranium morphogenesis
GO:0048839 inner ear development
GO:0050714 positive regulation of protein secretion
GO:0051491 positive regulation of filopodium assembly
GO:0051496 positive regulation of stress fiber assembly
GO:0051781 positive regulation of cell division
GO:0060325 face morphogenesis
GO:0060364 frontal suture morphogenesis
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0060395 SMAD protein signal transduction
GO:0070483 detection of hypoxia
GO:1904706 negative regulation of vascular smooth muscle cell proliferation
GO:1905075 positive regulation of occluding junction disassembly
GO:1905005 regulation of epithelial to mesenchymal transition involved in endocardial cushion formation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0030141 secretory granule
GO:0030315 T-tubule
GO:0031012 extracellular matrix
GO:0031093 platelet alpha granule lumen
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK122902 - Homo sapiens cDNA FLJ16571 fis, clone TESOP2002804, highly similar to Transforming growth factor beta-3 precursor.
X14149 - Human mRNA for transforming growth factor-beta 3 (TGF-beta 3).
J03241 - Human transforming growth factor-beta 3 (TGF-beta3) mRNA, complete cds.
JD281914 - Sequence 262938 from Patent EP1572962.
JD504321 - Sequence 485345 from Patent EP1572962.
JD424785 - Sequence 405809 from Patent EP1572962.
JD381812 - Sequence 362836 from Patent EP1572962.
JD084961 - Sequence 65985 from Patent EP1572962.
JD254239 - Sequence 235263 from Patent EP1572962.
JD426511 - Sequence 407535 from Patent EP1572962.
JD496353 - Sequence 477377 from Patent EP1572962.
JD433382 - Sequence 414406 from Patent EP1572962.
JD302797 - Sequence 283821 from Patent EP1572962.
JD113856 - Sequence 94880 from Patent EP1572962.
JD148578 - Sequence 129602 from Patent EP1572962.
JD197003 - Sequence 178027 from Patent EP1572962.
JD211999 - Sequence 193023 from Patent EP1572962.
JD491133 - Sequence 472157 from Patent EP1572962.
JD545347 - Sequence 526371 from Patent EP1572962.
JD094433 - Sequence 75457 from Patent EP1572962.
JD289278 - Sequence 270302 from Patent EP1572962.
JD266345 - Sequence 247369 from Patent EP1572962.
EF560714 - Homo sapiens clone DKFZp761C107 TGFB3 protein (TGFB3) mRNA, complete cds.
JD331235 - Sequence 312259 from Patent EP1572962.
A23753 - TGF-beta3 coding region.
AK313564 - Homo sapiens cDNA, FLJ94128, Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.
AB590825 - Synthetic construct DNA, clone: pFN21AE1886, Homo sapiens TGFB3 gene for transforming growth factor, beta 3, without stop codon, in Flexi system.
A23758 - TGF-beta3(44/45)beta1 hybrid coding region.
A23759 - TGF-beta3(44/45)beta2 hybrid coding region.
BC018503 - Homo sapiens transforming growth factor, beta 3, mRNA (cDNA clone MGC:21261 IMAGE:4477175), complete cds.
KJ904574 - Synthetic construct Homo sapiens clone ccsbBroadEn_13968 TGFB3 gene, encodes complete protein.
BT007287 - Homo sapiens transforming growth factor, beta 3 mRNA, complete cds.
CQ873719 - Sequence 138 from Patent WO2004076622.
DD413556 - Regulation of Mammalian Cells.
JD488250 - Sequence 469274 from Patent EP1572962.
JD426424 - Sequence 407448 from Patent EP1572962.
JD277445 - Sequence 258469 from Patent EP1572962.
JD494730 - Sequence 475754 from Patent EP1572962.
JD404828 - Sequence 385852 from Patent EP1572962.
JD200969 - Sequence 181993 from Patent EP1572962.
JD074459 - Sequence 55483 from Patent EP1572962.
JD137133 - Sequence 118157 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04060 - Cytokine-cytokine receptor interaction
hsa04110 - Cell cycle
hsa04144 - Endocytosis
hsa04350 - TGF-beta signaling pathway
hsa05140 - Leishmaniasis
hsa05142 - Chagas disease
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05211 - Renal cell carcinoma
hsa05212 - Pancreatic cancer
hsa05220 - Chronic myeloid leukemia
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy

BioCarta from NCI Cancer Genome Anatomy Project
h_g1Pathway - Cell Cycle: G1/S Check Point
h_alkPathway - ALK in cardiac myocytes
h_erythPathway - Erythrocyte Differentiation Pathway
h_tob1Pathway - Role of Tob in T-cell activation
h_slrp2Pathway - Function of SLRP in Bone: An Integrated View
h_p38mapkPathway - p38 MAPK Signaling Pathway
h_il1rPathway - Signal transduction through IL1R
h_nktPathway - Selective expression of chemokine receptors during T-cell polarization
h_inflamPathway - Cytokines and Inflammatory Response
h_mapkPathway - MAPKinase Signaling Pathway
h_tgfbPathway - TGF beta signaling pathway
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor

Reactome (by CSHL, EBI, and GO)

Protein P10600 (Reactome details) participates in the following event(s):

R-HSA-2396029 Latent TGF-beta-3 binds integrins
R-HSA-2327886 SLRPs bind TGF Beta
R-HSA-481007 Exocytosis of platelet alpha granule contents
R-HSA-2395328 LTBP1, LTBP3 bind TGF-Beta
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-3000178 ECM proteoglycans
R-HSA-114608 Platelet degranulation
R-HSA-1566948 Elastic fibre formation
R-HSA-1474244 Extracellular matrix organization
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000238682.1, ENST00000238682.2, ENST00000238682.3, ENST00000238682.4, ENST00000238682.5, ENST00000238682.6, ENST00000238682.7, NM_003239, P10600, TGFB3_HUMAN, uc001xsc.1, uc001xsc.2, uc001xsc.3, uc001xsc.4
UCSC ID: ENST00000238682.8
RefSeq Accession: NM_003239
Protein: P10600 (aka TGFB3_HUMAN or TGF3_HUMAN)
CCDS: CCDS9846.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TGFB3:
loeys-dietz (Loeys-Dietz Syndrome)
taa (Heritable Thoracic Aortic Disease Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.