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FLASH GENE
Symbol TGFB2 contributors: mct - updated : 26-08-2015
HGNC name transforming growth factor, beta 2
HGNC id 11768
Location 1q41      Physical location : 218.518.675 - 218.617.959
Genatlas name transforming growth factor beta 2, including the lacking-associated peptide LAP
DNA
TYPE functioning gene
STRUCTURE 99.29 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status provisional
Map cen - D1S81 - TGFB2 - D1S48 - D1S74 - qter
Physical map
LOC391164 1 similar to protein tyrosine phosphatase, receptor type, Q isoform 1 precursor; glomerular mesangial cell receptor protein-tyrosine phosphatase LOC200125 1q41 similar to laminin A-chain USH2A 1q41 Usher syndrome 2A (autosomal recessive, mild) MRPS18BP1 6q22.33 mitochondrial ribosomal protein S17 pseudogene 5 ESRRG 1q32 estrogen-related receptor gamma FLJ10252 1q41 hypothetical protein FLJ10252 LOC128153 1q41 hypothetical protein BC014608 UBBP2 1q32 ubiquitin B pseudogene 2 CGI-115 1q41 CGI-115 protein LOC391165 1 similar to 40S ribosomal protein S26 TGFB2 1q41 transforming growth factor, beta 2 LYPLAL1 1q41 lysophospholipase-like 1 LOC388738 1 LOC388738 LOC388739 1 similar to KIAA0663 gene product DKFZp547M236 EPRS 1q41 glutamyl-prolyl-tRNA synthetase BPNT1 1q41 3'(2'), 5'-bisphosphate nucleotidase 1 FLJ10326 1q42.11 mitochondrial isoleucine tRNA synthetase RAB3-GAP150 1q42.12 mitochondrial isoleucine tRNA synthetase MORF4LP1 1q4.1-4.2 mortality factor 4 like pseudogene 1 LOC127086 1q42.11 similar to ATP-dependent DNA helicase II, 70 kDa subunit (Lupus Ku autoantigen protein p70) (Ku70) (70 kDa subunit of Ku antigen) (Thyroid-lupus autoantigen) (TLAA) (CTC box binding factor 75 kDa subunit) (CTCBF) (CTC75) MARK1 1q41 MAP/microtubule affinity-regulating kinase 1 FLJ14146 1q42.11 hypothetical protein FLJ14146 FLJ20605 1q42.11 hypothetical protein FLJ20605 FLJ22390 1q42.11 hypothetical protein FLJ22390
RNA
TRANSCRIPTS type messenger
text additional transcripts resulting from alternative polyadenylation
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 splicing 5882 47 414 widely 2011 21087928
8 splicing 5966 50 442 - 2011 21087928
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systembreastmammary gland highly
Skin/Tegumentskin   highly
Urinarykidney   highly
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connective    
cells
SystemCellPubmedSpeciesStageRna symbol
 chondrocyte
Blood/Hematopoieticmonocyte
Blood/Hematopoieticplatelet
Skin/Tegumentkeratinocyte
VisualMuller cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text in the vitreous body, lens, retina, and ciliary-iris complex of human eye at early stages of fetal development
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • precursor protein containing a N terminal LAP (latency associated peptide) sequence
  • EGF repeats
  • a C terminal TGFB sequence
  • mono polymer homomer , dimer
    isoforms Precursor a 112 amino acids mature peptide (12.7 kDa)
    HOMOLOGY
    interspecies homolog to rattus Tgfb2 (95.17 pc)
    homolog to murine Tgfb2 (95.41 pc)
    Homologene
    FAMILY TGF beta superfamily
    CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,endosome
    basic FUNCTION
  • having suppressing effects on interleukin-2 dependent T-cell growth
  • antagonist of BMP7 in human trabecular meshwork cells
  • TGFB2 and hyaluronan signals are integrated to regulate changes in epicardial cell behavior
  • increases extracellular matrix proteins in optic nerve head cells via activation of the Smad signaling pathway
  • TGFB2, GREM1 and connective tissue growth factor (CTGF) are known to play important roles in the induction of epithelial mesenchymal transition (EMT) and extracellular matrix (ECM) synthesis
  • Müller cells release TGFB2, inhibiting the proliferation of retinal endothelial cells via activation of Smad2/Smad3 and attenuation of ERK signaling
  • TGFB2 is likely to be acting as a critical factor in axial elongation and development of myopia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    via the SMAD (MADH2 or MADH3-MADH4) complex
    a component forming a small latent complex by disulfide binding between TGFB dimer and the propeptide dimer TGFbeta 1 latency associated polypeptide (LAP)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IL2 suppressor of IL-2 dependent T cell growth
  • PAX3 regulates TGFbeta2 by directly binding to cis-regulatory elements on its promoter
  • interacting with CDKN2A (TGFB2 and CDKN2A act in a linear pathway during embryonic development)
  • HOXA10 target gene (HOXA10 activated TGFB2 transcription by interacting with tandem cis elements in the promoter)
  • GREM1 also induces both TGFB2 and CTGF, which can act downstream to mediate some of these ECM changes in trabecular meshwork (TM)cells
  • SDC2 modulates TGFB2 transcriptional regulation via Smad signaling to facilitate fibrosarcoma cell adhesion
  • regulates hypothalamic TRH expression through the TGFbeta inducible early gene-1 (KLF10) during fetal development
  • HOXB7 promotes tumor progression in a cell-autonomous and non-cell-autonomous manner through activation of the TGFb2 signaling pathway
  • cell & other
    REGULATION
    induced by resveratrol (a polyphenolic compound found in the skin of red fruits)
    inhibited by CNTN2 (CNTN2 inhibits TGFbeta2-mediated neuronal cell death via APP by attenuating the binding of TGFbeta2 to APP in a gamma-secretase-independent manner, which may contribute to the onset and the progression of Alzheimer disease-relevant neuronal cell death)
    Other regulated by cytokines (may be responsible for the biological behaviour)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tgfb2-null mice die shortly after birth and have ascending aortas that are comparatively small and thin walled and other development defects involving the heart, lung, craniofacial, limb, spinal column, eye, inner ear and urogenital systems