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TGFBR2 Gene

protein-coding GIFtS: 71

GC03P030623

transforming growth factor, beta receptor II (70/80kDa)
(Previous names: transforming growth factor, beta receptor II (70-80kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MFS2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AAT3 ^², ⁵
EC 2.7.11.30 ^³
FAA3 ^²
HNPCC6 ^⁵
LDS1B ^², ⁵
LDS2B ^², ⁵
MFS2 ^², ⁵
RIIC ^²
TAAD2 ^²
TGFR-2 ^², ³
TGFbeta-RII ^²
TbetaR-II ^³

Descriptions
TGF-beta receptor type II ^³
TGF-beta receptor type IIB ^²
TGF-beta type II receptor ^², ³
Transforming growth factor-beta receptor type II ^³
transforming growth factor beta receptor type IIC ^²
transforming growth factor, beta receptor II ^²
transforming growth factor, beta receptor II (70-80kD) ^¹, ²
transforming growth factor, beta receptor II (70/80kDa) ^²

External Ids
HGNC: 11773¹
Entrez Gene: 7048²
UniProtKB: P37173³
Ensembl: ENSG00000163513⁷

Search outside databases for aliases for TGFBR2 gene

Previous GC identifers: GC03M030227 GC03M029766 GC03P030497 GC03P030622

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for TGFBR2:

This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily.

The encoded protein is a transmembrane protein that has a protein kinase domain, forms a

heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand

complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a

subset of genes related to cell proliferation. Mutations in this gene have been associated with

Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of

tumors. Alternatively spliced transcript variants encoding different isoforms have been

characterized. [provided by RefSeq]

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I

transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I

receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.

Receptor for TGF-beta

Gene Wiki entry for TGFBR2 (TGF_beta_receptor_2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TGFBR2 gene

Entrez Gene cytogenetic band: 3p22 Ensembl cytogenetic band: 3p24.1 HGNC cytogenetic band: 3p22

TGFBR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P030623: (about GC identifiers)

Start:	30,622,998 bp from pter
End:	30,710,638 bp from pter
Size:	87,641 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000003.10 NT_022517.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173 (See protein sequence)

Recommended Name: TGF-beta receptor type-2 precursor

Size: 567 amino acids; 64568 Da

Cofactor: Magnesium or manganese (By similarity)

Subunit: Binds to DAXX. Interacts with TCTEX1D4

Subcellular location: Membrane; Single-pass type I membrane protein

PDB structures from and Proteopedia :

1KTZ (3D)

1M9Z (3D)

1PLO (3D)

2PJY (3D)

Secondary accessions: Q15580 Q6DKT6 Q99474

Alternative splicing: 2 isoforms: P37173-1 P37173-2

Post-translational modifications:

Phosphorylated on a Ser/Thr residue in the cytoplasmic domain¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001020018.1 NP_003233.4

ENSEMBL proteins:

ENSP00000351905 ENSP00000373275 ENSP00000295754

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for TGFBR2
	R&D Systems Recombinant & Natural Proteins for TGFBR2 (TGF-beta RII, TGF-beta RIIb)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TGF beta Receptor II)
	Human Recombinant Proteins from Abnova (TGFBR2)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	IEA	--
GO:0005886	plasma membrane	EXP	9865696 11100470
GO:0005901	caveola	IEA	--
GO:0009897	external side of plasma membrane	IDA	18453574

About this table

Antibodies for TGFBR2:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of TGFBR2
	Sigma-Aldrich Antibodies for TGFBR2
	R&D Systems Antibodies for TGFBR2 (TGF-beta RII, TGF-beta RIIb)
	Cell Signaling Technology (CST) Antibodies for TGFBR2 (TGF-b receptor II)
	Antibodies from Abcam (TGF beta Receptor II), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TGFBR2)
	Novus Biologicals Antibodies for TGFBR2

Assays for TGFBR2:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P37173

ProtoNet protein and cluster: P37173

1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173

Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB

receptor subfamily

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TGFBR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TGFBR2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003242

Applied Biosystems Silencer® siRNAs for TGFBR2

Sigma-Aldrich siRNA and siRNA Panels for TGFBR2

Sigma-Aldrich shRNA Panels and shRNA for TGFBR2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001024847
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001024847
untagged cDNA clones in CMV expression vector (see all 3): NM_001024847

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001024847

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173

Function: On ligand binding, forms a receptor complex consisting of two type II and two type I

transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I

receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.

Receptor for TGF-beta

Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

Enzyme Number (IUBMB): EC 2.7.11.30

Genatlas biochemistry entry for TGFBR2:

transforming growth factor beta,receptor type II,75kDa,activating MADH2 and MADH3 (see TSG3B),often

altered during adenoma-carcinoma progression of HNPCC,also prevalently mutated in the squamous

cell carcinoma of head and neck,in pancreatic adenocarcinomas,in hepatocellular carcinoma,and in

sporadic gastric cancer,inactivated in pancreatic and biliary cancers and in thyroid

carcinoma,major target of the EWSR1/FLI1 chimeric oncoprotein

15/19 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Tgfbr2) (see all 19 ):

	behavior/neurological	craniofacial	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	nervous system

5/13 Gene Ontology (GO) molecular function terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0000287	magnesium ion binding	IEA	--
GO:0004872	receptor activity	IEA	--
GO:0005026	transforming growth factor beta receptor activity, type II	IEA	--
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/13 Sigma-Aldrich "Your Favorite Gene" Pathways for TGFBR2 (Your Favorite Gene powered by Ingenuity) (see all 13 )

Factors Promoting Cardiogenesis in Vertebrates
p38 MAPK Signaling
PPAR&alpha
Glucocorticoid Receptor Signaling
Molecular Mechanisms of Cancer

GeneDecks TGFBR2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for TGFBR2

5/104 Interacting proteins for TGFBR2 (ENSP00000351905³ P37173¹) via UniProtKB, MINT, and/or STRING (see all 104 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TGFB3	P10600¹	STRING (score=.999) EBI-296151, EBI-1033020
DAXX	Q9UER7¹	EBI-296151, EBI-77321
Daxx Daxx (xeno)	O35613¹	EBI-296151, EBI-77304
TGFB1 TGFB1 (xeno)	P07200¹	EBI-296151, EBI-907660
ENG	ENSP00000362299³	STRING (score=.999)

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5/32 Gene Ontology (GO) biological process terms (links to tree view) (see all 32 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	TAS	10092230
GO:0001569	patterning of blood vessels	ISS	--
GO:0001570	vasculogenesis	IEA	--
GO:0002053	positive regulation of mesenchymal cell proliferation	ISS	--
GO:0002651	positive regulation of tolerance induction to self antigen	ISS	--

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TGFBR2
10/19 Novoseek chemical compound relationships for TGFBR2 gene (see all 19 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mononucleotide	85.72	43	10690536 (4), 10699890 (2), 17950544 (2), 9500552 (1) (see all 29)
taad	82.34	13	16027248 (4), 16791849 (1), 16646045 (1), 18781618 (1) (see all 6)
tgf beta1	75.99	28	17763417 (4), 10208456 (3), 11531253 (2), 11869079 (2) (see all 16)
threonine	60.56	20	11212236 (2), 10789724 (2), 1310899 (1), 1525823 (1) (see all 17)
crcs	36.12	3	17893910 (2), 10544223 (1)
polynucleotide	28.81	3	9808530 (1), 9468559 (1)
ribonucleic acid	17.85	2	9496536 (1), 11910473 (1)
mannose 6-phosphate	13.63	2	10699890 (1)
glucose	2.26	5	11178962 (2), 11774095 (1), 12631068 (1), 11260392 (1)
nitric oxide	1.36	2	19193655 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TGFBR2)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (TGFBR2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_003242

Sigma-Aldrich siRNA and siRNA Panels for TGFBR2

Sigma-Aldrich shRNA Panels and shRNA for TGFBR2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001024847 NM_003242

REFSEQ mRNAs for TGFBR2 gene (2 alternative transcripts):

NM_001024847.2 NM_003242.5

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001024847 NM_003242

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001024847
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001024847
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001024847

Additional cDNA sequence:

AJ786388.1 AK300383.1 AK304404.1 AK314102.1 BC040499.1 BX648313.1 D28131.1 M85079.1

9 DOTS entries:

DT.453682 DT.100028901 DT.91829754 DT.95260870 DT.120891788 DT.92437549 DT.91981415 DT.95149729

DT.99993512

24/387 AceView cDNA sequences (see all 387 ):

BM839463 CD244819 AI673468 BI770585 AA382359 H01473 AI537829 BM846835

BU732709 BQ214505 CA437785 BU683312 BU625110 AA384371 AI949353 BQ898216

AA313197 BM674218 CK819554 CK819039 AI206758 BQ888787 AA296751 AI346014

highest scoring ESTs for TGFBR2:

AA028091 AA028183 AA044926 AA047387 AA053131 AA086117 AA096482 AA126993 AA130091 AA131665

Unigene Cluster for TGFBR2:

Transforming growth factor, beta receptor II (70/80kDa)

Hs.82028 [show with all ESTs]

Unigene Representative Sequence: BX648313

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR2

ExUns:	1a	·	1b	^	2	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7	^	8	^	9
SP1:					-								-
SP2:
SP3:

About this scheme

ECgene alternative splicing isoforms for TGFBR2

3 Ensembl transcripts including schematic representations:

ENST00000359013 ENST00000383765 ENST00000295754

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TGFBR2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TGFBR2

¹ / ² / ³

7 probe-sets matching TGFBR2 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1814_at²^{, 3}	U95-A	1	1.00	1.00	0.97	1.11	D50683	0.60	1.00	0.82	1
1815_g_at²^{, 3}	U95-A	1	1.00	1.00	0.95	0.92	D50683	0.60	1.00	0.82	1
86025_r_at*²^{, 3}	U95-D	1	--	--	0.70	0.98	AI498431	0.20	1.00	0.72	1
207334_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003242	0.60	1.00	0.82	1
208944_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D50683	0.60	1.00	0.82	1
207334_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208944_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TGFBR2 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.82028
Expression variation in blood from EXPOLDB for TGFBR2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for TGFBR2 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TGFBR2¹	--	transforming growth factor, beta receptor II (70/8 more	89.93(n) 93.84(a)	477039 XM_534237.2 XP_534237.2
chimpanzee (Pan troglodytes)	TGFBR2¹	--	transforming growth factor, beta receptor II (70/8 more	99.61(n) 100(a)	460243 XM_516343.2 XP_516343.2
cow (Bos taurus)	TGFBR2¹	--	transforming growth factor, beta receptor II (70/8 more	86.36(n) 91.71(a)	535376 XM_615445.3 XP_615445.2
rat (Rattus norvegicus)	Tgfbr2¹	--	transforming growth factor, beta receptor II	86.42(n) 90.48(a)	81810 NM_031132.1 NP_112394.1
mouse (Mus musculus)	Tgfbr2^{1, 5}	9 (69.00 cM)⁵	transforming growth factor, beta receptor II^{1, 5}	87.16(n)¹ 91.39(a)¹	21813¹ NM_009371.2¹ NP_033397.2¹ AF118264⁵ AF406755⁵ (see all 20)

About this table Species with no ortholog for TGFBR2

ENSEMBL Gene Tree for TGFBR2

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for TGFBR2 gene

ACVR2A² ACVR2B²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/726 NCBI SNPs in TGFBR2 are shown (see all 726 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 262)

AB	SNP ID	Valid	Chr 3 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs764522^1,2	A,C,F,H,O	30621554(+)	`GACTCC/GTGGGA`	2	--	ng5¹		21	NS MN EU EA WA NA	1605
	rs744751^1,2	A,C,F,H,O	30710941(-)	`AAACAC/TTGGCT`	2	--	ng3¹		22	EA NA EU WA	1646
	rs6550008^1,2	A,C,F,H	30709904(+)	`TGTTAA/GTGCTG`	2	--	ut3¹ ese³		18	NA EU NS EA WA	1586
	rs995686^1,2	A,C,F,H	30710728(+)	`CTCAAC/ATGACA`	2	--	ng3¹		8	NA PA MN EU	646
	rs3087465^1,2	A,C,F,H	30622164(+)	`TTTATA/G/TCTGTT`	2	--	ng5¹		16	NA EA EU NS	2182
	rs7648606^1,2	A,C,F,H	30621298(+)	`AGGCAT/CATTCA`	2	--	ng5¹		7	EU EA NA NS	522
	rs9847457^1,2	C,F,H	30710736(+)	`ACAGTC/TTCACA`	2	--	ng3¹		7	EU EA WA NA	494
	rs11466534^1,2	C,F,H	30709975(+)	`AGAGAG/AGGACT`	2	--	ut3¹ ese³		8	NA EU NS EA WA	684
	rs11466532^1,2	C,F,H	30709449(+)	`TAGCTC/TTTTCC`	2	--	ut3¹		5	NA EU NS	382
	rs11466536^1,2	C,F,H	30710160(+)	`TGCACC/TGTAGG`	2	--	ut3¹ ese³		15	NA EU MN EA WA	1254

About this table

HapMap Linkage Disequilibrium images for TGFBR2 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 190182

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173

Defects in TGFBR2 are the cause of hereditary non-polyposis colorectal cancer type 6

(HNPCC6) [MIM:190182]. Mutations in more than one gene locus can be involved alone or in

combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families

with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an

autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.

It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and

extra-colonic cancers of the gastrointestinal, urological and female reproductive tracts. HNPCC is

reported to be the most common form of inherited colorectal cancer in the Western world, and

accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps

termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary

predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal

colon. Type II: patients have an increased risk for cancers in certain tissues such as the uterus,

ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of

classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal

cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more

colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes.

The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or

only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is

strongly suspected. HNPCC6 is a type of colorectal cancer complying with the clinical criteria of

HNPCC, except that the onset of cancer was beyond 50 years of age in all cases

Defects in TGFBR2 are a cause of esophageal cancer [MIM:133239]

Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]. LDS1

is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized

by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft

palate. Other findings include exotropy, micrognathia and retrognathia, structural brain

abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity

and aneurysm with dissection throughout the arterial tree

Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380];

formerly Marfan syndrome type 2. LDS2 is an aortic aneurysm syndrome with widespread systemic

involvement. Physical findings include prominent joint laxity, easy bruising, wide and atrophic

scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen

or bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy,

including rupture of the gravid uterus and the arteries, either during pregnancy or in the

immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities

with the exception of bifid uvula that can be present in some patients

Defects in TGFBR2 are the cause of aortic aneurysm familial thoracic type 3 (AAT3)

[MIM:610380]. Aneurysms and dissections of the aorta usually result from degenerative changes in

the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a

characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial

necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth

muscle cells, and an accumulation of basophilic ground substance. AAT3 is an autosomal dominant

disorder with reduced penetrance and variable expression

10/90 Novoseek disease relationships for TGFBR2 gene (see all 90 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
microsatellite instability	91.31	105	9330602 (3), 16635398 (3), 11751500 (2), 8900429 (2) (see all 69)
marfan syndrome	70.46	32	15235604 (2), 18781618 (2), 16799921 (2), 18377530 (1) (see all 18)
colorectal cancer	66.97	81	10690536 (5), 8978340 (4), 17270239 (4), 11159190 (2) (see all 43)
gastric cancer	62.42	56	12324709 (5), 9230189 (4), 17562261 (4), 9771922 (4) (see all 26)
colon cancer	61.57	47	16108056 (5), 17985359 (5), 14714614 (2), 14582709 (2) (see all 15)
tumors	61.20	204	11405868 (7), 12825850 (5), 9721065 (3), 15676142 (3) (see all 99)
aortic aneurysm thoracic	56.90	7	16791849 (1), 18781618 (1), 18264665 (1), 18721526 (1) (see all 6)
cancer	55.74	94	9458298 (3), 9566701 (3), 11253131 (2), 8952554 (2) (see all 58)
somatic mutations	49.15	5	10690536 (1), 15048084 (1), 17258725 (1), 8903488 (1)
gastric carcinoma	48.74	20	9538129 (2), 12692838 (2), 8840981 (2), 16635398 (2) (see all 12)

About this table

1 PharmGKB disease relationship for TGFBR2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Marfan Syndrome	FA	15235604

About this table

GeneTests: TGFBR2

Loeys-Dietz Syndrome

Human Gene Mutation Database: TGFBR2
Genetic Association Database: TGFBR2
Human Genome Epidemiology Navigator: TGFBR2 (26 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/741 PubMed articles for TGFBR2 gene (see all 741 ):

Heterozygous TGFBR2 mutations in Marfan syndrome. (PubMed id 15235604)^{1, 2, 3, 4, 7} Mizuguchi T....Matsumoto N. (2004)
A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. (PubMed id 12202987)^{1, 3, 4, 6} Watanabe Y.... Yoshiura K. (2002)
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (PubMed id 16027248)^{1, 3, 4} Pannu H.... Milewicz D.M. (2005)
A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. (PubMed id 10789724)^{1, 3, 4} Tanaka S.... Sugimachi K. (2000)
Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996)^{1, 3, 6} Jung B....Carethers J.M. (2006)
Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. (PubMed id 11212236)^{1, 3, 4} Luecke C.D.... Hesketh R. (2001)
Genotyping of patients with sporadic and radiation-associated meningiomas. (PubMed id 15824172)^{1, 3, 6} Sadetzki S....Friedman E. (2005)
Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers. (PubMed id 15305380)^{1, 3, 6} Jin Q....Forsti A. (2004)
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density. (PubMed id 14727154)^{1, 3, 6} Mizuguchi T.... Yoshiura K. (2004)
Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex. (PubMed id 11850637)^{1, 3, 4} Hart P.J.... Hinck A.P. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7048	HGNC: 11773	AceView: TGFBR2	Ensembl:ENSG00000163513	euGenes: HUgn7048
ECgene: TGFBR2	H-InvDB: TGFBR2

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for TGFBR2	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=TGFBR2
NIEHS-SNPs	http://egp.gs.washington.edu/data/tgfbr2/

Licensable Technologies for TGFBR2
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for TGFBR2:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for TGFBR2-related products

	Millipore Custom Antibody & Bulk Services
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Antibodies & Assays for TGFBR2 (TGF-b receptor II)

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	Antibodies (TGF beta Receptor II)

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Antibodies for TGFBR2

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TGFBR2 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for TGFBR2

Summaries
for TGFBR2

Genomic Location
for TGFBR2

Proteins
for TGFBR2

Protein Domains/
Families
for TGFBR2

Gene Function
for TGFBR2

Pathways & Interactions
for TGFBR2

Drugs & Compounds
for TGFBR2

Transcripts
for TGFBR2

Expression
for TGFBR2

Orthologs
for TGFBR2

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SNPs/Variants
for TGFBR2

Disorders & Mutations
for TGFBR2

Medical News
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for TGFBR2

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Genome Databases showing TGFBR2

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TGFBR2 (Gene Symbol)
AAT3
EC 2.7.11.30
FAA3
HNPCC6
LDS1B
LDS2B
MFS2
RIIC
TAAD2
TGFR-2
TGFbeta-RII
TbetaR-II
TGF-beta receptor type II
TGF-beta receptor type IIB
TGF-beta type II receptor
Transforming growth factor-beta receptor type II
transforming growth factor beta receptor type IIC
transforming growth factor, beta receptor II
transforming growth factor, beta receptor II (70-80kD)
transforming growth factor, beta receptor II (70/80kDa)

TGFBR2 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor TGFBR2

Summariesfor TGFBR2

Genomic Locationfor TGFBR2

Proteinsfor TGFBR2

Protein Domains/Familiesfor TGFBR2

Gene Functionfor TGFBR2

Pathways & Interactionsfor TGFBR2

Drugs & Compoundsfor TGFBR2

Transcriptsfor TGFBR2

Expression for TGFBR2

Orthologsfor TGFBR2

Paralogsfor TGFBR2

SNPs/Variantsfor TGFBR2

Disorders & Mutationsfor TGFBR2

Medical Newsfor TGFBR2

Publicationsfor TGFBR2

Search for TGFBR2

Genome Databases showing TGFBR2

Other Databases showing TGFBR2

Specialized Databases showing TGFBR2

Licensable Technologiesfor TGFBR2

Servicesfor TGFBR2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TGFBR2

Summaries
for TGFBR2

Genomic Location
for TGFBR2

Proteins
for TGFBR2

Protein Domains/
Families
for TGFBR2

Gene Function
for TGFBR2

Pathways & Interactions
for TGFBR2

Drugs & Compounds
for TGFBR2

Transcripts
for TGFBR2

Expression
for TGFBR2

Orthologs
for TGFBR2

Paralogs
for TGFBR2

SNPs/Variants
for TGFBR2

Disorders & Mutations
for TGFBR2

Medical News
for TGFBR2

Publications
for TGFBR2

Licensable Technologies
for TGFBR2

Services
for TGFBR2