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FLASH GENE

Symbol

TGFB2

contributors: mct - updated : 26-08-2015

HGNC name	transforming growth factor, beta 2
HGNC id	11768

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

text	additional transcripts resulting from alternative polyadenylation

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003238 7 splicing 5882 47 414 widely 2011 21087928 NM_001135599 8 splicing 5966 50 442 - 2011 21087928

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system breast mammary gland   highly Skin/Tegument skin       highly Urinary kidney       highly Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective

cells

System Cell Pubmed Species Stage Rna symbol   chondrocyte Blood/Hematopoietic monocyte Blood/Hematopoietic platelet Skin/Tegument keratinocyte Visual Muller 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