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TGFB1 Gene

protein-coding GIFtS: 74

GC19M046528

transforming growth factor, beta 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: TGFB, DPD1)

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

Aliases
CED ^¹, ², ⁵
DPD1 ^², ⁵
TGF-beta-1 ^³
TGFB ^², ³
TGFbeta ^¹, ²

Descriptions
TGF-beta 1 protein ^²
diaphyseal dysplasia 1, progressive ^²
transforming growth factor, beta 1 ^²
transforming growth factor-beta 1 ^²

External Ids
HGNC: 11766¹
Entrez Gene: 7040²
UniProtKB: P01137³
Ensembl: ENSG00000105329⁷

Search outside databases for aliases for TGFB1 gene

Previous GC identifers: GC19M042475 GC19M042227 GC19M046484

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

EntrezGene summary for TGFB1:

TGFB is a multifunctional peptide that controls proliferation, differentiation, and other functions

in many cell types. TGFB acts synergistically with TGFA (MIM 190170) in inducing transformation.

It also acts as a negative autocrine growth factor. Dysregulation of TGFB activation and signaling

may result in apoptosis. Many cells synthesize TGFB and almost all of them have specific receptors

for this peptide. TGFB1, TGFB2 (MIM 190220), and TGFB3 (MIM 190230) all function through the same

receptor signaling systems.[supplied by OMIM]

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137

Function: Multifunctional protein that controls proliferation, differentiation and other functions

in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively

and negatively regulates many other growth factors. It plays an important role in bone remodeling

as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and

differentiation in committed osteoblasts

Gene Wiki entry for TGFB1 (TGF_beta_1)

(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 TGFB1 gene

Entrez Gene cytogenetic band: 19q13.2|19q13.1 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.1

TGFB1 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 19 GeneLoc Exon Structure

GeneLoc location for GC19M046528: (about GC identifiers)

Start:	46,528,491 bp from pter
End:	46,551,656 bp from pter
Size:	23,166 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000019.8 NT_011109.15

(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: TGFB1_HUMAN, P01137 (See protein sequence)

Recommended Name: Transforming growth factor beta-1 precursor

Size: 390 amino acids; 44341 Da

Subunit: The inactive form consists of a TGFB1 homodimer non-covalently linked to a

latency-associated peptide (LAP) homodimer. The inactive complex can contain a latent

TGFB1-binding protein. The active form is a homodimer of mature TGFB1; disulfide-linked.

Heterodimers of TGFB1/TGFB2 have been found in bone. Interacts with CD109 and DPT

Subcellular location: Secreted

PDB structures from and Proteopedia :

1KLA (3D)

1KLC (3D)

1KLD (3D)

Secondary accessions: Q9UCG4

Post-translational modifications:

Glycosylated¹

The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to

mature TGF-beta-1 rendering it inactive¹

REFSEQ proteins: NP_000651.3

ENSEMBL proteins:

ENSP00000221930

Human Recombinant Proteins

	Invitrogen human recombinant proteins for TGFB1
	Millipore Purified and/or Recombinant TGFB1 Protein
	Sigma-Aldrich Proteins for TGFB1
	R&D Systems Recombinant & Natural Proteins for TGFB1 (Latent TGF-beta 1, LAP (TGF-beta 1), TGF-beta 1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (TGF beta 1, TGF beta)
	Human Recombinant Proteins from Abnova (TGFB1)

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

5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005578	proteinaceous extracellular matrix	ISS	--
GO:0005615	extracellular space	ISS	--
GO:0005634	nucleus	IDA	18040277
GO:0005737	cytoplasm	IDA	18040277

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Antibodies for TGFB1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of TGFB1
	Sigma-Aldrich Antibody Arrays and Antibodies for TGFB1
	R&D Systems Antibodies for TGFB1 ("TGF-beta 1, 2, 3", TGF-beta (pan), LAP (TGF-beta 1), TGF-beta 1)
	Cell Signaling Technology (CST) Antibodies for TGFB1 (TGF-beta)
	Antibodies from Abcam (TGF beta 1, TGF beta), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TGFB1)
	Novus Biologicals Antibodies for TGFB1

Assays for TGFB1:

	Invitrogen Assays for TGFB1
	Millipore Kits and Assays for the Analysis of TGFB1
	R&D Systems Flow Cytometry Kits for TGFB1 (TGF-beta 1) (see all)
	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 P01137

ProtoNet protein and cluster: P01137

5 Blocks protein families:

IPB001111 Transforming growth factor beta (TGFb)

IPB001839 Transforming growth factor beta (TGFb)

IPB002400 Growth factor cystine knot superfamily signature

IPB003911 Transforming growth factor beta precursor signature

IPB003939 Transforming growth factor beta 1 precursor signature

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137

Similarity: Belongs to the TGF-beta family

(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 (TGFB1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000660

Applied Biosystems Silencer® siRNAs for TGFB1

Sigma-Aldrich siRNA and siRNA Panels for TGFB1

Sigma-Aldrich shRNA Panels and shRNA for TGFB1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for TGFB1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000660
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000660
untagged cDNA clone in CMV expression vector: NM_000660

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_000660

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137

Function: Multifunctional protein that controls proliferation, differentiation and other functions

in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively

and negatively regulates many other growth factors. It plays an important role in bone remodeling

as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and

differentiation in committed osteoblasts

Induction: Activated in vitro at pH below 3.5 and over 12.5

Genatlas biochemistry entry for TGFB1:

transforming growth factor,beta 1,152.6kDa,homodimerizing,expressed by

fibroblast,platelet,monocyte,chondrocyte,osteoblasts,stimulating articular chondrocyte cell growth

through MAPK3 activation,including the latency associated peptide (LAP),involved in the growth

inhibition suppression by the complex Rb/Bog,may be implicated in susceptibility to

atherosclerosis,bone diseases or various forms of cancer,regarding the presence of particular

alleles at the locus

15/22 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Tgfb1) (see all 22 ):

	behavior/neurological	cellular	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

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005114	type II transforming growth factor beta receptor binding	IPI	1333888
GO:0008083	growth factor activity	IEA	--
GO:0016563	transcription activator activity	ISS	--
GO:0047485	protein N-terminus 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.)
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5/20 Sigma-Aldrich "Your Favorite Gene" Pathways for TGFB1 (Your Favorite Gene powered by Ingenuity) (see all 20 )

TGF-&beta
Renal Cell Carcinoma Signaling
Glucocorticoid Receptor Signaling
Role of Cytokines in Mediating Communication between Immune Cells
PPAR&alpha

GeneDecks TGFB1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for TGFB1

5/304 Interacting proteins for TGFB1 (ENSP00000221930³ P01137¹) via UniProtKB, MINT, and/or STRING (see all 304 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APP	P05067¹	STRING (score=.894) EBI-779636, EBI-77613
SEPP1	ENSP00000373479³	STRING (score=.845)
DCN	ENSP00000052754³	STRING (score=.999)
IFNG	ENSP00000229135³	STRING (score=.999)
SMAD2	ENSP00000262160³	STRING (score=.999)

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5/74 Gene Ontology (GO) biological process terms (links to tree view) (see all 74 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	ISS	--
GO:0001666	response to hypoxia	IEA	--
GO:0001763	morphogenesis of a branching structure	IEA	--
GO:0001933	negative regulation of protein amino acid phosphorylation	IPI	8053900
GO:0002248	connective tissue replacement during inflammatory response	TAS	9639571

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(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

Compounds for TGFB1 available from Tocris Bioscience

Compound	Action	CAS number
LY 364947	Selective inhibitor of TGF-betaRI	[396129-53-6]
A 83-01	Selective inhibitor of TGF-betaRI, ALK4 and ALK7	[909910-43-6]
D 4476	Selective CK1 inhibitor. Also inhibits TGF-betaRI	[301836-43-1]
SB 431542	Potent, selective inhibitor of TGF-betaRI, ALK4 and ALK7	[301836-41-9]

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10/20 Novoseek chemical compound relationships for TGFB1 gene (see all 20 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1	96.71	3284	11882926 (15), 12174377 (12), 9628655 (11), 16686283 (11) (see all 99)
procollagen	69.10	85	7717995 (6), 11040229 (4), 1900574 (2), 7510487 (2) (see all 50)
thymidine	63.06	127	10786820 (4), 10420148 (3), 8856846 (2), 11330966 (2) (see all 89)
il 10	53.50	32	15367225 (3), 12668154 (3), 16287542 (2), 18640487 (2) (see all 20)
glycosaminoglycan	52.25	46	1613437 (4), 2120082 (4), 15133980 (3), 11788461 (3) (see all 21)
pd 98,059	49.44	44	16598650 (2), 16547158 (2), 18346908 (2), 10843986 (2) (see all 29)
rantes	49.42	69	10336000 (9), 16564576 (7), 10925048 (3), 11931377 (3) (see all 38)
matrigel	45.37	25	11673839 (2), 10652434 (2), 16547158 (2), 11880276 (2) (see all 16)
ribonucleic acid	45.13	50	8166201 (3), 8623837 (3), 8768866 (2), 7962271 (1) (see all 23)
cmdb7	43.89	3	9663468 (2), 9662260 (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 (TGFB1)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000660

Sigma-Aldrich siRNA and siRNA Panels for TGFB1

Sigma-Aldrich shRNA Panels and shRNA for TGFB1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000660

REFSEQ mRNAs for TGFB1 gene:

NM_000660.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000660

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000660
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000660
                                 untagged cDNA clone in CMV expression vector: NM_000660

Additional cDNA sequence:

AK291907.1 AK307742.1 AY820829.1 BC000125.1 BC001180.1 BC022242.1 BT007245.1 CR592182.1

CR601792.1 CR612251.1 M38449.1 X02812.1

16 DOTS entries:

DT.100797270 DT.95265833 DT.113054 DT.100833261 DT.95144033 DT.92410325 DT.92433717 DT.100031024

DT.100797272 DT.91811260 DT.99954228 DT.99961298 DT.92414144 DT.95265834 DT.100797271 DT.92466233

24/334 AceView cDNA sequences (see all 334 ):

CK904267 BI031619 BG978088 AW630956 BM738551 BQ222205 CR612251 BM717493

D58870 CA432581 AI656715 BE092786 BM555996 BC022242 CA423539 BU633535

BQ335301 AI954807 BF950318 BM772947 BU632941 AI634937 T28993 AI863346

highest scoring ESTs for TGFB1:

X02812 AA143627 AL044345 AU139271 AU279787 AW368984 AW630956 BC000125 BC001180 BC022242

Unigene Cluster for TGFB1:

Transforming growth factor, beta 1

Hs.645227 [show with all ESTs]

Unigene Representative Sequence: X02812

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000221930

(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

TGFB1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TGFB1

¹ / ² / ³

7 probe-sets matching TGFB1 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
1830_s_at²^{, 3}	U95-A	1	1.00	1.00	0.89	1.10	M38449	0.80	1.00	0.91	1
41445_at²^{, 3}	U95-A	1	1.00	1.00	0.67	0.90	X02812	1.00	1.00	1.00	1
1634_s_at²^{, 3}	U95-A	3	1.00	0.96	-0.20	0.11	X05839	0.20	1.00	0.72	1
203085_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BC000125	0.80	1.00	0.91	1
203084_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000660	0.60	1.00	0.82	1
203085_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203084_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks TGFB1 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: GGGGCTGTAT

SOURCE GeneReport for Unigene cluster: Hs.645227
Expression variation in blood from EXPOLDB for TGFB1
UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
Tissue specificity: Highly expressed in bone

(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)
About This Section

Orthologs for TGFB1 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TGFB1¹	--	transforming growth factor, beta 1	92.56(n) 94.36(a)	403998 NM_001003309.1 NP_001003309.1
chimpanzee (Pan troglodytes)	TGFB1¹	--	transforming growth factor, beta 1	99.83(n) 100(a)	456060 XM_512687.2 XP_512687.2
rat (Rattus norvegicus)	Tgfb1¹	--	transforming growth factor, beta 1	85.9(n) 90.26(a)	59086 NM_021578.1 NP_067589.1
mouse (Mus musculus)	Tgfb1^{1, 5}	7 (6.50 cM)⁵	transforming growth factor, beta 1^{1, 5}	85.38(n)¹ 90(a)¹	21803¹ NM_011577.1¹ NP_035707.1¹ AI846557⁵ AJ009862⁵ (see all 15)
zebrafish (Danio rerio)	tgfb1¹	--	transforming growth factor, beta 1	55.4(n) 47.96(a)	359834 NM_182873.1 NP_878293.1

About this table Species with no ortholog for TGFB1

ENSEMBL Gene Tree for TGFB1

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

Paralogs for TGFB1 gene

TGFB3² GDF15² TGFB2²

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

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137

Polymorphism: In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with

osteoporosis than in controls

10/201 NCBI SNPs in TGFB1 are shown (see all 201 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 53)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1800472^1,2	C,F,H	46539700(-)	`GGCCAC/TCCCGC`	1	T/I	mis¹ ese³		21	MN CSAM EA NA EU WA	5487
--	rs1800471^1,2	C,F	46550716(-)	`TGGCCG/CGCCGG`	1	P/R	mis¹ ese³		10	MN CSAM EA NA EU	4494
--	rs9282871^1,2	C,F	46550803(-)	`GGGGGG/ACGCCG`	1	--	ut5¹ ese³		8	MN CSAM EA NA EU	494
	rs11466316^1,2	F,H	46551176(-)	`CCGGCC/TTCCCG`	1	--	ut5¹ ese³		7	NA EU EA WA	508
	rs13306708^1,2	H	46550931(-)	`TGCGCC/TCTTCT`	1	--	ut5¹ ese³ trp³		4	EU EA WA	414
--	rs11466315^1,2	F	46551616(-)	`TCCGCG/CGAGCA`	1	--	ut5¹ ese³		3	NA EU	88
--	rs11466345^1,2	A,C,F,H	46535301(-)	`ctcacA/Gcccgt`	1	--	int¹		11	NA EU EA WA	932
	rs4803455^1,2	A,C,F,H	46543349(+)	`GAAGTC/AATTTC`	1	--	int¹		4	EU EA WA	418
	rs2241715^1,2	A,C,F,H	46548726(-)	`ggtccG/Tgttgc`	1	--	int¹		10	EA EU WA NA	2381
--	rs2278422^1,2	A,C,F	46537598(-)	`GCAACG/CCTGTC`	1	--	int¹		4	NA EU	157

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HapMap Linkage Disequilibrium images for TGFB1 (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: 190180 disorders: 131300 219700

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137

Defects in TGFB1 are the cause of Camurati-Engelmann disease (CED) [MIM:131300]; also

known as progressive diaphyseal dysplasia 1 (DPD1). CED is an autosomal dominant disorder

characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically

presents in early childhood with pain, muscular weakness and waddling gait, and in some cases

other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision

10/98 Novoseek disease relationships for TGFB1 gene (see all 98 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
renal fibrosis	77.52	45	15313011 (2), 9214404 (2), 17300978 (2), 18266088 (2) (see all 34)
liver fibrosis	71.51	146	11412388 (6), 17456311 (5), 9727721 (5), 14642613 (5) (see all 67)
necrosis	69.31	542	1587858 (2), 9633531 (2), 17622749 (2), 10417853 (2) (see all 99)
scars hypertrophic	68.99	82	12560674 (5), 11955370 (5), 7963657 (4), 9682679 (4) (see all 32)
camurati-engelmann disease	67.80	22	11810278 (2), 12493741 (2), 12843182 (1), 10973241 (1) (see all 13)
glomerulosclerosis	66.25	52	12417087 (3), 11728950 (2), 9052888 (2), 17494887 (2) (see all 40)
tumors	66.13	1375	12720300 (8), 9721065 (6), 18176914 (6), 11505481 (6) (see all 99)
diabetic nephropathies	65.82	102	16734145 (5), 12500218 (4), 8691733 (4), 17319955 (4) (see all 52)
keloid	65.06	116	11838050 (7), 12560674 (5), 12640331 (4), 11593607 (4) (see all 38)
pulmonary fibrosis	63.29	62	11413354 (3), 18583319 (2), 8630262 (2), 9490651 (2) (see all 42)

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3 PharmGKB disease relationships for TGFB1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Asthma	GN	14597484
Inflammation	CO GN	11404167
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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GeneTests: TGFB1

Camurati-Engelmann Disease

Human Gene Mutation Database: TGFB1
Genetic Association Database: TGFB1
Human Genome Epidemiology Navigator: TGFB1 (535 documents)
Tumor Gene Database: TGFB1

(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

10/4482 PubMed articles for TGFB1 gene (see all 4482 ):

Transforming growth factor-beta1 promoter polymorphism C-509T is associated with asthma. (PubMed id 14597484)^{1, 3, 6, 7} Silverman E.S....Shore S.A. (2004)
A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (PubMed id 12843182)^{1, 3, 4, 6} McGowan N.W.... Helfrich M.H. (2003)
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)
Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. (PubMed id 9783545)^{1, 3, 4, 6} Yamada Y.... Ikeda K. (1998)
The effect of cytokine gene polymorphisms on pediatric heart allograft outcome. (PubMed id 11404167)^{3, 6, 7} Awad M.R....Zeevi A. (2001)
[Effect of polymorphism of transforming growth factor beta1 gene on HBV-induced liver cirrhosis] (PubMed id 16029542)^{1, 3, 6} Yang Z.X....Zhao W.J. (2005)
Analysis of TGF-beta(1) gene polymorphisms in Hong Kong Chinese patients with asthma. (PubMed id 16387590)^{1, 3, 6} Mak J.C....Chan-Yeung M.M. (2006)
Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis. (PubMed id 15841043)^{1, 3, 6} Bendicho M.T....Lemaire D.C. (2005)
A gain of function TGFB1 polymorphism may be associated with late stage prostate cancer. (PubMed id 15159307)^{1, 3, 6} Ewart-Toland A....Ma J. (2004)
Association between the TNF-2 allele and a better survival in cardiogenic shock. (PubMed id 15189946)^{1, 3, 6} Appoloni O....Vincent J.L. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7040	HGNC: 11766	AceView: TGFB1	Ensembl:ENSG00000105329	euGenes: HUgn7040
ECgene: TGFB1	H-InvDB: TGFB1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for TGFB1	Genetics and Cytogenetics in Oncology and Haematology
Mammary Transgene Database entry for TGFB1	More genetic and clinical information
GeneReviews	http://www.genetests.org/query?gene=TGFB1
Wikipedia	http://en.wikipedia.org/wiki/TGF_beta_1

Licensable Technologies for TGFB1
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Licensable Technologies for TGFB1 gene:

Tufts University:

Use of miRNAs to selectively modulate TGF-?/BMP signaling to treat TGF-?/BMP mediated disorders

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for TGFB1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

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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 TGFB1-related products

	Millipore Custom Antibody & Bulk Services
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	Antibodies (TGF beta 1, TGF beta)

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Antibodies for TGFB1

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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

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TGFB1 Gene

protein-coding GIFtS: 74

Aliases &
Descriptions
for TGFB1

Summaries
for TGFB1

Genomic Location
for TGFB1

Proteins
for TGFB1

Protein Domains/
Families
for TGFB1

Gene Function
for TGFB1

Pathways & Interactions
for TGFB1

Drugs & Compounds
for TGFB1

Transcripts
for TGFB1

Expression
for TGFB1

Orthologs
for TGFB1

Paralogs
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SNPs/Variants
for TGFB1

Disorders & Mutations
for TGFB1

Medical News
for TGFB1

Publications
for TGFB1

Search for TGFB1

Genome Databases showing TGFB1

Other Databases showing TGFB1

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for TGFB1

Services
for TGFB1

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

TGFB1 Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor TGFB1

Summariesfor TGFB1

Genomic Locationfor TGFB1

Proteinsfor TGFB1

Protein Domains/Familiesfor TGFB1

Gene Functionfor TGFB1

Pathways & Interactionsfor TGFB1

Drugs & Compoundsfor TGFB1

Transcriptsfor TGFB1

Expression for TGFB1

Orthologsfor TGFB1

Paralogsfor TGFB1

SNPs/Variantsfor TGFB1

Disorders & Mutationsfor TGFB1

Medical Newsfor TGFB1

Publicationsfor TGFB1

Search for TGFB1

Genome Databases showing TGFB1

Other Databases showing TGFB1

Specialized Databases showing TGFB1

Licensable Technologiesfor TGFB1

Servicesfor TGFB1

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 TGFB1

Summaries
for TGFB1

Genomic Location
for TGFB1

Proteins
for TGFB1

Protein Domains/
Families
for TGFB1

Gene Function
for TGFB1

Pathways & Interactions
for TGFB1

Drugs & Compounds
for TGFB1

Transcripts
for TGFB1

Expression
for TGFB1

Orthologs
for TGFB1

Paralogs
for TGFB1

SNPs/Variants
for TGFB1

Disorders & Mutations
for TGFB1

Medical News
for TGFB1

Publications
for TGFB1

Licensable Technologies
for TGFB1

Services
for TGFB1