Human Gene TGFB2 (ENST00000366930.9_9) from GENCODE V47lift37
  Description: transforming growth factor beta 2, transcript variant 3 (from RefSeq NR_138148.2)
Gencode Transcript: ENST00000366930.9_9
Gencode Gene: ENSG00000092969.12_11
Transcript (Including UTRs)
   Position: hg19 chr1:218,518,678-218,617,961 Size: 99,284 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:218,520,044-218,614,704 Size: 94,661 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:218,518,678-218,617,961)mRNA (may differ from genome)Protein (414 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TGFB2_HUMAN
DESCRIPTION: RecName: Full=Transforming growth factor beta-2; Short=TGF-beta-2; AltName: Full=BSC-1 cell growth inhibitor; AltName: Full=Cetermin; AltName: Full=Glioblastoma-derived T-cell suppressor factor; Short=G-TSF; AltName: Full=Polyergin; Flags: Precursor;
FUNCTION: TGF-beta 2 has suppressive effects on interleukin-2 dependent T-cell growth.
SUBUNIT: Homodimer; disulfide-linked (By similarity). Heterodimers with TGFB1 and with TGFB3 have been found in bone (By similarity). Interacts with the serine proteases, HTRA1 and HTRA3 (By similarity). Interacts with ASPN.
INTERACTION: P05067:APP; NbExp=6; IntAct=EBI-779581, EBI-77613;
SUBCELLULAR LOCATION: Secreted.
DISEASE: Note=A chromosomal aberration involving TGFB2 is found in a family with Peters anomaly. Translocation t(1;7)(q41;p21) with HDAC9.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tgfb2/";
WEB RESOURCE: Name=Wikipedia; Note=TGF beta-2 entry; URL="http://en.wikipedia.org/wiki/TGF_beta_2";

-  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: TGFB2
Diseases sorted by gene-association score: loeys-dietz syndrome 4* (1230), tgfb2-related loeys-dietz syndrome* (500), holt-oram syndrome* (283), loeys-dietz syndrome (33), breast cyst (30), macular holes (25), fuchs' heterochromic uveitis (23), chronic closed-angle glaucoma (21), neovascular glaucoma (19), vitreoretinopathy, neovascular inflammatory (18), vitreous disease (17), bullous keratopathy (16), aortic disease (16), mitral valve disease (11), keratosis, seborrheic, somatic (10), open-angle glaucoma (10), warthin tumor (10), aortic aneurysm (10), glaucoma 1, open angle, e (10), preretinal fibrosis (9), stiff skin syndrome (9), peyronie's disease (9), milk allergy (9), aneurysm (8), tuberculoid leprosy (8), uveitis (7), bifid uvula (6), multilocular clear cell renal cell carcinoma (6), alopecia, androgenetic, 1 (6), tendinosis (5), hereditary hemorrhagic telangiectasia (5), corneal disease (5), microvascular complications of diabetes 1 (5), aortic aneurysm, familial thoracic 1 (5), pancreatic cancer (5), usher syndrome, type 2a (4), corneal dystrophy, posterior polymorphous, 3 (4), peripheral osteosarcoma (4), juvenile glaucoma (4), osteochondroma (3), uveal melanoma (2), dilated cardiomyopathy (2), malaria (2), hydrocephalus (2), colorectal cancer (2), ovarian cancer, somatic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.84 RPKM in Minor Salivary Gland
Total median expression: 131.64 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 -480.101366-0.351 Picture PostScript Text
3' UTR -756.503257-0.232 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
IPR003940 - TGFb2
IPR017948 - TGFb_CS

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

SCOP Domains:
57501 - Cystine-knot cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1TFG - X-ray MuPIT 2TGI - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61812
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0005102 receptor binding
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:0034714 type III transforming growth factor beta receptor binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000902 cell morphogenesis
GO:0001501 skeletal system development
GO:0001525 angiogenesis
GO:0001654 eye development
GO:0001666 response to hypoxia
GO:0001822 kidney development
GO:0001837 epithelial to mesenchymal transition
GO:0001843 neural tube closure
GO:0001942 hair follicle development
GO:0002576 platelet degranulation
GO:0003007 heart morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003149 membranous septum morphogenesis
GO:0003179 heart valve morphogenesis
GO:0003181 atrioventricular valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003215 cardiac right ventricle morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0003274 endocardial cushion fusion
GO:0003289 atrial septum primum morphogenesis
GO:0003407 neural retina development
GO:0006468 protein phosphorylation
GO:0007050 cell cycle arrest
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0007435 salivary gland morphogenesis
GO:0007507 heart development
GO:0008219 cell death
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0008347 glial cell migration
GO:0008584 male gonad development
GO:0009611 response to wounding
GO:0009792 embryo development ending in birth or egg hatching
GO:0010002 cardioblast differentiation
GO:0010469 regulation of receptor activity
GO:0010629 negative regulation of gene expression
GO:0010634 positive regulation of epithelial cell migration
GO:0010693 negative regulation of alkaline phosphatase 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:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016477 cell migration
GO:0016525 negative regulation of angiogenesis
GO:0030097 hemopoiesis
GO:0030199 collagen fibril organization
GO:0030307 positive regulation of cell growth
GO:0030308 negative regulation of cell growth
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0030593 neutrophil chemotaxis
GO:0031069 hair follicle morphogenesis
GO:0032147 activation of protein kinase activity
GO:0032570 response to progesterone
GO:0032874 positive regulation of stress-activated MAPK cascade
GO:0032909 regulation of transforming growth factor beta2 production
GO:0033630 positive regulation of cell adhesion mediated by integrin
GO:0035910 ascending aorta morphogenesis
GO:0042060 wound healing
GO:0042416 dopamine biosynthetic process
GO:0042476 odontogenesis
GO:0042493 response to drug
GO:0042704 uterine wall breakdown
GO:0043525 positive regulation of neuron apoptotic process
GO:0045216 cell-cell junction organization
GO:0045726 positive regulation of integrin biosynthetic process
GO:0045747 positive regulation of Notch signaling pathway
GO:0045778 positive regulation of ossification
GO:0045787 positive regulation of cell cycle
GO:0045823 positive regulation of heart contraction
GO:0046580 negative regulation of Ras protein signal transduction
GO:0048103 somatic stem cell division
GO:0048468 cell development
GO:0048566 embryonic digestive tract development
GO:0048666 neuron development
GO:0048699 generation of neurons
GO:0048839 inner ear development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050714 positive regulation of protein secretion
GO:0050777 negative regulation of immune response
GO:0050778 positive regulation of immune response
GO:0051781 positive regulation of cell division
GO:0051794 regulation of catagen
GO:0051795 positive regulation of catagen
GO:0051891 positive regulation of cardioblast differentiation
GO:0060038 cardiac muscle cell proliferation
GO:0060065 uterus development
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:0060395 SMAD protein signal transduction
GO:0060412 ventricular septum morphogenesis
GO:0060413 atrial septum morphogenesis
GO:0061626 pharyngeal arch artery morphogenesis
GO:0097191 extrinsic apoptotic signaling pathway
GO:1902256 regulation of apoptotic process involved in outflow tract morphogenesis
GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter
GO:1903701 substantia propria of cornea development
GO:1904888 cranial skeletal system development
GO:1905006 negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
GO:1903659 regulation of complement-dependent cytotoxicity

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0030424 axon
GO:0031012 extracellular matrix
GO:0031093 platelet alpha granule lumen
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AB209842 - Homo sapiens mRNA for transforming growth factor, beta 2 variant protein.
M19154 - Human transforming growth factor-beta-2 mRNA, complete cds.
Y00083 - Human mRNA for glioblastoma-derived T-cell suppressor factor G-TsF (transforming growth factor-beta2, TGF-beta2).
BC096235 - Homo sapiens transforming growth factor, beta 2, mRNA (cDNA clone MGC:116890 IMAGE:40005424), complete cds.
BC096236 - Homo sapiens cDNA clone IMAGE:40005425.
BC099635 - Homo sapiens transforming growth factor, beta 2, mRNA (cDNA clone MGC:116892 IMAGE:40005426), complete cds.
BC099636 - Homo sapiens cDNA clone IMAGE:40005427, containing frame-shift errors.
AK313106 - Homo sapiens cDNA, FLJ93591, highly similar to Homo sapiens transforming growth factor, beta 2 (TGFB2), mRNA.
AK296504 - Homo sapiens cDNA FLJ53052 complete cds, highly similar to Transforming growth factor beta-2 precursor.
KJ897663 - Synthetic construct Homo sapiens clone ccsbBroadEn_07057 TGFB2 gene, encodes complete protein.
AB590532 - Synthetic construct DNA, clone: pFN21AE1906, Homo sapiens TGFB2 gene for transforming growth factor, beta 2, without stop codon, in Flexi system.
AK295671 - Homo sapiens cDNA FLJ51862 complete cds, highly similar to Transforming growth factor beta-2 precursor.
AK299839 - Homo sapiens cDNA FLJ50852 complete cds, highly similar to Transforming growth factor beta-2 precursor.
A23756 - TGF-beta2(44/45)beta1 hybrid coding region.
A23757 - TGF-beta2(44/45)beta3 hybrid coding region.
A23752 - TGF-beta2 coding region.
JD045047 - Sequence 26071 from Patent EP1572962.
JD103073 - Sequence 84097 from Patent EP1572962.
JD565942 - Sequence 546966 from Patent EP1572962.
AK021874 - Homo sapiens cDNA FLJ11812 fis, clone HEMBA1006364.

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

Reactome (by CSHL, EBI, and GO)

Protein P61812 (Reactome details) participates in the following event(s):

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-3000178 ECM proteoglycans
R-HSA-114608 Platelet degranulation
R-HSA-2129379 Molecules associated with elastic fibres
R-HSA-1474244 Extracellular matrix organization
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-1566948 Elastic fibre formation
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B4DKC5, ENST00000366930.1, ENST00000366930.2, ENST00000366930.3, ENST00000366930.4, ENST00000366930.5, ENST00000366930.6, ENST00000366930.7, ENST00000366930.8, NR_138148, P08112, P61812, Q15579, Q15581, Q4VAV9, TGFB2_HUMAN, uc318fme.1, uc318fme.2
UCSC ID: ENST00000366930.9_9
RefSeq Accession: NM_003238.6
Protein: P61812 (aka TGFB2_HUMAN or TGF2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TGFB2:
loeys-dietz (Loeys-Dietz Syndrome)
taa (Heritable Thoracic Aortic Disease Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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