Gene: TGFB2

Basic information

Tag Content
Uniprot ID P61812; B4DKC5; P08112; Q15579; Q15581; Q4VAV9;
Entrez ID 7042
Genbank protein ID EAW93326.1; AAR05442.1; AAH96235.1; AAA61162.1; AAH99635.1; CAA68279.1; AAA50405.1; AAA50404.1; BAG59137.1;
Genbank nucleotide ID NM_001135599.3; NM_003238.4;
Ensembl protein ID ENSP00000355897; ENSP00000355896;
Ensembl nucleotide ID ENSG00000092969
Gene name Transforming growth factor beta-2 proprotein
Gene symbol TGFB2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 8454288; 10918043;
Functional description Transforming growth factor beta-2 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively.
Sequence
MHYCVLSAFL ILHLVTVALS LSTCSTLDMD QFMRKRIEAI RGQILSKLKL TSPPEDYPEP 60
EEVPPEVISI YNSTRDLLQE KASRRAAACE RERSDEEYYA KEVYKIDMPP FFPSENAIPP 120
TFYRPYFRIV RFDVSAMEKN ASNLVKAEFR VFRLQNPKAR VPEQRIELYQ ILKSKDLTSP 180
TQRYIDSKVV KTRAEGEWLS FDVTDAVHEW LHHKDRNLGF KISLHCPCCT FVPSNNYIIP 240
NKSEELEARF AGIDGTSTYT SGDQKTIKST RKKNSGKTPH LLLMLLPSYR LESQQTNRRK 300
KRALDAAYCF RNVQDNCCLR PLYIDFKRDL GWKWIHEPKG YNANFCAGAC PYLWSSDTQH 360
SRVLSLYNTI NPEASASPCC VSQDLEPLTI LYYIGKTPKI EQLSNMIVKS CKCS 414

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTGFB2534069P21214Bos taurusPredictionMore>>
1:1 orthologTGFB2488596F1PKH2Canis lupus familiarisPredictionMore>>
1:1 orthologTGFB2100861228A0A452FPN4Capra hircusPredictionMore>>
1:1 orthologTGFB2100050377F6WJJ3Equus caballusPredictionMore>>
1:1 orthologTGFB27042P61812Homo sapiensPublicationMore>>
1:1 orthologTgfb221808P27090CPOE12.5, E14.0, E13.5, E14.5, E15.5Mus musculusPublicationMore>>
1:1 orthologTGFB2A0A2I3S6G8Pan troglodytesPredictionMore>>
1:1 orthologTGFB2F1S9L0Sus scrofaPredictionMore>>
1:1 orthologTGFB2G1SNK8Oryctolagus cuniculusPredictionMore>>
1:1 orthologTgfb2G3V6B1Rattus norvegicusPredictionMore>>
1:1 orthologtgfb2F8W4A6Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001540 amyloid-beta bindingIDA
GO:0005102 signaling receptor bindingIMP
GO:0005114 type II transforming growth factor beta receptor bindingIDA
GO:0005114 type II transforming growth factor beta receptor bindingIPI
GO:0005114 type II transforming growth factor beta receptor bindingIBA
GO:0005114 type II transforming growth factor beta receptor bindingIMP
GO:0005125 cytokine activityIBA
GO:0005160 transforming growth factor beta receptor bindingIDA
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIEA
GO:0034714 type III transforming growth factor beta receptor bindingIPI
GO:0034714 type III transforming growth factor beta receptor bindingIBA
GO:0034714 type III transforming growth factor beta receptor bindingIMP
GO:0042803 protein homodimerization activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0000902 cell morphogenesisIDA
GO:0001501 skeletal system developmentISS
GO:0001654 eye developmentIDA
GO:0001666 response to hypoxiaIMP
GO:0001822 kidney developmentISS
GO:0001837 epithelial to mesenchymal transitionIDA
GO:0001837 epithelial to mesenchymal transitionTAS
GO:0001843 neural tube closureISS
GO:0001942 hair follicle developmentISS
GO:0001942 hair follicle developmentIDA
GO:0002576 platelet degranulationTAS
GO:0003007 heart morphogenesisIDA
GO:0003148 outflow tract septum morphogenesisISS
GO:0003149 membranous septum morphogenesisISS
GO:0003179 heart valve morphogenesisISS
GO:0003181 atrioventricular valve morphogenesisISS
GO:0003184 pulmonary valve morphogenesisISS
GO:0003203 endocardial cushion morphogenesisISS
GO:0003215 cardiac right ventricle morphogenesisISS
GO:0003222 ventricular trabecula myocardium morphogenesisISS
GO:0003274 endocardial cushion fusionISS
GO:0003289 atrial septum primum morphogenesisISS
GO:0003407 neural retina developmentISS
GO:0006468 protein phosphorylationIDA
GO:0007050 cell cycle arrestIDA
GO:0007179 transforming growth factor beta receptor signaling pathwayIDA
GO:0007179 transforming growth factor beta receptor signaling pathwayIBA
GO:0007435 salivary gland morphogenesisIEP
GO:0007507 heart developmentIDA
GO:0008219 cell deathIDA
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008285 negative regulation of cell population proliferationIDA
GO:0008347 glial cell migrationIDA
GO:0008584 male gonad developmentISS
GO:0009611 response to woundingIEP
GO:0009792 embryo development ending in birth or egg hatchingTAS
GO:0010002 cardioblast differentiationIDA
GO:0010629 negative regulation of gene expressionIDA
GO:0010634 positive regulation of epithelial cell migrationIDA
GO:0010693 negative regulation of alkaline phosphatase activityIDA
GO:0010718 positive regulation of epithelial to mesenchymal transitionIDA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0010936 negative regulation of macrophage cytokine productionIDA
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signalingIDA
GO:0016477 cell migrationIDA
GO:0016525 negative regulation of angiogenesisIDA
GO:0030097 hemopoiesisISS
GO:0030199 collagen fibril organizationIDA
GO:0030307 positive regulation of cell growthIDA
GO:0030308 negative regulation of cell growthIDA
GO:0030326 embryonic limb morphogenesisISS
GO:0030509 BMP signaling pathwayIBA
GO:0030593 neutrophil chemotaxisISS
GO:0031069 hair follicle morphogenesisISS
GO:0032147 activation of protein kinase activityIDA
GO:0032570 response to progesteroneIDA
GO:0032874 positive regulation of stress-activated MAPK cascadeIDA
GO:0032909 regulation of transforming growth factor beta2 productionIMP
GO:0033630 positive regulation of cell adhesion mediated by integrinIDA
GO:0035910 ascending aorta morphogenesisISS
GO:0042060 wound healingISS
GO:0042127 regulation of cell population proliferationIBA
GO:0042416 dopamine biosynthetic processISS
GO:0042476 odontogenesisNAS
GO:0042493 response to drugIDA
GO:0042704 uterine wall breakdownTAS
GO:0043525 positive regulation of neuron apoptotic processIDA
GO:0045216 cell-cell junction organizationIDA
GO:0045726 positive regulation of integrin biosynthetic processIDA
GO:0045747 positive regulation of Notch signaling pathwayIDA
GO:0045778 positive regulation of ossificationIEP
GO:0045787 positive regulation of cell cycleISS
GO:0045823 positive regulation of heart contractionIDA
GO:0046580 negative regulation of Ras protein signal transductionISS
GO:0048103 somatic stem cell divisionISS
GO:0048566 embryonic digestive tract developmentIEP
GO:0048666 neuron developmentISS
GO:0048699 generation of neuronsTAS
GO:0048839 inner ear developmentISS
GO:0050680 negative regulation of epithelial cell proliferationIMP
GO:0050680 negative regulation of epithelial cell proliferationIDA
GO:0050714 positive regulation of protein secretionIDA
GO:0050778 positive regulation of immune responseISS
GO:0051781 positive regulation of cell divisionIEA
GO:0051794 regulation of timing of catagenIDA
GO:0051795 positive regulation of timing of catagenIDA
GO:0051891 positive regulation of cardioblast differentiationIDA
GO:0060038 cardiac muscle cell proliferationIDA
GO:0060065 uterus developmentISS
GO:0060317 cardiac epithelial to mesenchymal transitionIDA
GO:0060389 pathway-restricted SMAD protein phosphorylationIDA
GO:0060395 SMAD protein signal transductionIDA
GO:0060395 SMAD protein signal transductionIBA
GO:0060412 ventricular septum morphogenesisISS
GO:0060413 atrial septum morphogenesisISS
GO:0061626 pharyngeal arch artery morphogenesisISS
GO:0062009 secondary palate developmentISS
GO:0097191 extrinsic apoptotic signaling pathwayIDA
GO:1902256 regulation of apoptotic process involved in outflow tract morphogenesisISS
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase IIIDA
GO:1903701 substantia propria of cornea developmentISS
GO:1904888 cranial skeletal system developmentISS
GO:1905006 negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formationISS
GO:1905007 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationISS
GO:1903659 regulation of complement-dependent cytotoxicityIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionIDA
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIBA
GO:0005615 extracellular spaceIDA
GO:0030424 axonISS
GO:0031093 platelet alpha granule lumenTAS
GO:0043025 neuronal cell bodyISS
GO:0062023 collagen-containing extracellular matrixIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisTAS
R-HSA-114608 Platelet degranulation TAS
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1566948 Elastic fibre formationTAS
R-HSA-2129379 Molecules associated with elastic fibresTAS
R-HSA-3000178 ECM proteoglycansIEA
R-HSA-76002 Platelet activation, signaling and aggregationTAS
R-HSA-76005 Response to elevated platelet cytosolic Ca2+TAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0993 Aortic aneurysm
KW-0160 Chromosomal rearrangement
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0272 Extracellular matrix
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0497 Mitogen
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR016319 TGF-beta
IPR015615 TGF-beta-rel
IPR003940 TGFb2
IPR017948 TGFb_CS

PROSITE

PROSITE ID PROSITE Term
PS00250 TGF_BETA_1
PS51362 TGF_BETA_2

Pfam

Pfam ID Pfam Term
PF00019 TGF_beta
PF00688 TGFb_propeptide

Protein-protein interaction

Protein-miRNA interaction