Human Gene TGFB2 (uc001hlo.3)
  Description: Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.
RefSeq Summary (NM_003238): 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. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016].
Transcript (Including UTRs)
   Position: hg19 chr1:218,518,676-218,617,961 Size: 99,286 Total Exon Count: 7 Strand: +


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:218,518,676-218,617,961)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkHGNCLynx
MalacardsPubMedTreefamWikipedia

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TGFB2
CDC HuGE Published Literature: TGFB2
Positive Disease Associations: Attention Deficit Disorder with Hyperactivity , Exercise Test , Heart Rate , Iron , Magnesium , Platelet Aggregation , Respiratory Function Tests
Related Studies:
  1. Attention Deficit Disorder with Hyperactivity
    Jessica Lasky-Su et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2008, Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic. [PubMed 18821565]
  2. Exercise Test
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  3. Heart Rate
    , , . [PubMed 0]
           more ... click here to view the complete list

-  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           more ... click here to view the complete list

-  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.

-  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
      
      
      
      
      

-  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
  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_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

-  Other Names for This Gene
  Alternate Gene Symbols: BC096236
UCSC ID: uc001hlo.3
RefSeq Accession: NM_003238

-  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
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: BC096236.4
exon count: 7CDS single in 3' UTR: no RNA size: 1315
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1450.00frame shift in genome: no % Coverage: 99.62
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.