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FLASH GENE

Symbol

TGFBR2

contributors: mct/npt - updated : 28-02-2016

HGNC name	transforming growth factor, beta receptor II (70/80kDa)
HGNC id	11773

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	87.64 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site
text structure	KLF14 represses the TGFBR2 promoter via a co-repressor complex containing SAP130 and HDAC2
	distinct GC-rich sequences used by KLF14 to regulate this promoter

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001024847 7 - 4704 NP_001020018 - 592 - Grady (2006) NM_003242 8 - 4629 NP_003233 - 567 - Grady (2006)

EXPRESSION

Type	ubiquitous

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 Digestive intestine small intestine     highly Hearing/Equilibrium ear       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Reproductive epithelial cell

cell lineage
cell lines	rarely in epithelian ovarian cancer
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	cysteine-rich N terminal extracellular domain involved in ligand binding, and mediating receptor partitioning into membrane rafts and efficient entrance into caveolin-positive endosomes (Luga 2009)
	a single transmembrane domain (1TM)
	a regulatory segment called the GS region
	a C terminal cytoplasmic kinase domain
	a polyadenine tract mutated in colorectal cancers

HOMOLOGY

Homologene

FAMILY	protein kinase superfamily
	TKL Ser/Thr protein kinase family
	TGFB receptor subfamily

CATEGORY

signaling cytokine growth factor , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	membrane bound serine/threonine kinase receptor type, activating SMAD2 and SMAD3 (see TSG3B)
	required for normal development of the skeleton and that can act to limit chondrogenesis in mesenchymal cells like the interzone (Seo 2007)

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	mediating TGFB in regulating cell proliferation and differentiation and extracellular matrix production

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP
	magnesium or manganese

protein	interacting with TGFBRAP1
	binds to DAXX
	receptor for TGF-beta
	PPP2R2B protein interacts with the ACVRL1/TGFBR2/ENG complex and recruits PP2A to nitric oxide synthase 3 (NOS3)
	AGTR2 regulates TGFBR2 expression and function via the nitric oxide pathway, which may be important in the control of renal tubulointerstitial fibrosis
	SENP1 promotes sepsis via activating the TGFBR2 signaling

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MFS2 , LDS2B , LDS1B

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       protein chimeric major target of the EWSR1/FLI1 chimeric oncoprotein tumoral       loss of function in renal clear cell carcinomas with poor prognosis (renal clear cell carcinoma with metasatic potential)and inpancreatic, biliary and thyroid carcinoma

Susceptibility

to abdominal aortic aneurysm (Baas 2009)

Variant & Polymorphism SNP	SNP rs1036095 associated to abdominal aortic aneurysm (AAA)(Baas 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS