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SMAD3 Gene

protein-coding GIFtS: 68

GC15P065145

SMAD family member 3
(Previous names: MAD, mothers against decapentaplegic homolog 3 (Drosophila), SMAD, mothers against DPP homolog 3 (Drosophila) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MADH3)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
DKFZp586N0721 ^²
DKFZp686J10186 ^²
HSPC193 ^²
HsT17436 ^¹, ²
JV15-2 ^¹, ², ³
MADH3 ^², ³, ⁵
MGC60396 ^²
Mad3 ^³
hMAD-3 ^³
hSMAD3 ^³

Descriptions
MAD, mothers against decapentaplegic homolog 3 ^²
MAD, mothers against decapentaplegic homolog 3 (Drosophila) ^¹
Mothers against DPP homolog 3 ^³
SMA- and MAD-related protein 3 ^²
SMAD 3 ^³
SMAD family member 3 ^²
SMAD, mothers against DPP homolog 3 ^²
SMAD, mothers against DPP homolog 3 (Drosophila) ^¹
mad homolog JV15-2 ^²
mad protein homolog ^²
mothers against decapentaplegic homolog 3 ^²

External Ids
HGNC: 6769¹
Entrez Gene: 4088²
UniProtKB: P84022³
Ensembl: ENSG00000166949⁷

Search outside databases for aliases for SMAD3 gene

Previous GC identifer: GC15P065075

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for SMAD3:

The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene

products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C.

elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate

multiple signaling pathways. This protein functions as a transcriptional modulator activated by

transforming growth factor-beta and is thought to play a role in the regulation of carcinogenesis.

[provided by RefSeq]

UniProtKB/Swiss-Prot: SMAD3_HUMAN, P84022

Function: Transcriptional modulator activated by TGF-beta (transforming growth factor) and activin

type 1 receptor kinase. SMAD3 is a receptor-regulated SMAD (R-SMAD) (By similarity)

Gene Wiki entry for SMAD3 (Mothers_against_decapentaplegic_homolog_3)

(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 SMAD3 gene

Entrez Gene cytogenetic band: 15q22.33 Ensembl cytogenetic band: 15q22.33 HGNC cytogenetic band: 15q21-q22

SMAD3 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 15 GeneLoc Exon Structure

GeneLoc location for GC15P065145: (about GC identifiers)

Start:	65,145,249 bp from pter
End:	65,274,587 bp from pter
Size:	129,339 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(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)
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UniProtKB/Swiss-Prot: SMAD3_HUMAN, P84022 (See protein sequence)

Recommended Name: Mothers against decapentaplegic homolog 3

Size: 425 amino acids; 48081 Da

Subunit: Interacts with HGS. Interacts with NEDD4L in response to TGF-beta. Interacts with TTRAP

(By similarity). Interacts with SARA (SMAD anchor for receptor activation); form trimers with

another SMAD3 and the co-SMAD SMAD4. Interacts with JUN/FOS, vitamin D receptor, homeobox protein

TGIF and TGIF2, PEBP2-alpha C subunit, CREB-binding protein (CBP), p300, SKI, SNON, ATF2, SMURF2,

AIP1, DACH1 and TGFB1I1. Part of a complex consisting of AIP1, ACVR2A, ACVR1B and SMAD3. Found in

a complex with SMAD2 and TRIM33 upon addition of TGF-beta. Interacts with SMAD2 and TRIM33. Found

in a complex with SMAD3, Ran and XPO4. Interacts with XPO4. Interacts with LBXCOR1 and CORL2

Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=In the cytoplasm in

the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity)

PDB structures from and Proteopedia :

1MHD (3D)

1MJS (3D)

1MK2 (3D)

1OZJ (3D)

1U7F (3D)

Secondary accessions: O09064 O09144 O14510 O35273 Q92940 Q93002 Q9GKR4

Post-translational modifications:

Phosphorylated on serine by TGF-beta and activin type 1 receptor kinases¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (4 alternative transcripts):

NP_001138574.1 NP_001138575.1 NP_001138576.1 NP_005893.1

ENSEMBL proteins:

ENSP00000332973

Human Recombinant Proteins

	Invitrogen human recombinant proteins for SMAD3
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Smad3, Smad2 +Smad3)
	Human Recombinant Proteins from Abnova (SMAD3)

OriGene Purified Recombinant Human Protein: SMAD3

5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	EXP	10549282
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	IEA	--

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Antibodies for SMAD3:

	Invitrogen Antibodies for SMAD3
	Millipore Mono- and Polyclonal Antibodies for the study of SMAD3
	Sigma-Aldrich Antibodies for SMAD3
	R&D Systems Antibodies for SMAD3
	Cell Signaling Technology (CST) Antibodies for SMAD3
	Antibodies from Abcam (Smad3, Smad2 +Smad3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (SMAD3)
	Novus Biologicals Antibodies for SMAD3

Assays for SMAD3:

	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)
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Graphical View of Domain Structure for InterPro Entry P84022

ProtoNet protein and cluster: P84022

1 Blocks protein family: IPB001132 Dwarfin protein

UniProtKB/Swiss-Prot: SMAD3_HUMAN, P84022

Domain: The MH2 domain is sufficient to carry protein nuclear export

Similarity: Belongs to the dwarfin/SMAD family

Similarity: Contains 1 MH1 (MAD homology 1) domain

Similarity: Contains 1 MH2 (MAD homology 2) 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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SMAD3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SMAD3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_005902

Applied Biosystems Silencer® siRNAs for SMAD3

Sigma-Aldrich siRNA for SMAD3

Sigma-Aldrich shRNA Panels and shRNA for SMAD3

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SMAD3
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001145102
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001145102
untagged cDNA clones in CMV expression vector (see all 4): NM_001145102

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_005902

UniProtKB/Swiss-Prot: SMAD3_HUMAN, P84022

Function: Transcriptional modulator activated by TGF-beta (transforming growth factor) and activin

type 1 receptor kinase. SMAD3 is a receptor-regulated SMAD (R-SMAD) (By similarity)

15/23 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Smad3) (see all 23 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
embryogenesis	endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	immune system	lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003690	double-stranded DNA binding	IEA	--
GO:0003700	transcription factor activity	IEA	--
GO:0005160	transforming growth factor beta receptor binding	IPI	9311995
GO:0005518	collagen binding	IEA	--
GO:0008134	transcription factor 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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5/10 Sigma-Aldrich "Your Favorite Gene" Pathways for SMAD3 (Your Favorite Gene powered by Ingenuity) (see all 10 )

Androgen Signaling
Hepatic Fibrosis / Hepatic Stellate Cell Activation
TGF-&beta
Chronic Myeloid Leukemia Signaling
Molecular Mechanisms of Cancer

GeneDecks SMAD3 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for SMAD3

5/330 Interacting proteins for SMAD3 (ENSP00000332973³ P84022^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 330 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD4	Q13485²	STRING (score=.999) MINT-61708 MINT-61949
MED15	Q96RN5²	STRING (score=.961) MINT-15105
SMURF1	Q9HCE7²	STRING (score=.997) MINT-61699
ZEB2	O60315²	STRING (score=.913) MINT-61707
SKI	P12755¹^,²	STRING (score=.999) EBI-347161, EBI-347281 MINT-16378 MINT-17964 MINT-16379 EBI-347161, EBI-347281 MINT-16378 MINT-17964 MINT-16379

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5/24 Gene Ontology (GO) biological process terms (links to tree view) (see all 24 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IEA	--
GO:0001666	response to hypoxia	IMP	12411310
GO:0001707	mesoderm formation	IEA	--
GO:0002076	osteoblast development	IEA	--
GO:0006917	induction of apoptosis	IMP	15334054

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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

Browse Tocris compounds for SMAD3
10/21 Novoseek chemical compound relationships for SMAD3 gene (see all 21 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1	79.15	30	17095240 (3), 19214138 (2), 18353785 (2), 17270292 (2) (see all 16)
wp631	76.20	1	16705627 (1)
threonine	51.31	8	15104092 (1), 15210694 (1), 17270292 (1), 11106403 (1) (see all 7)
rpa 2	48.92	2	15691381 (1), 15153434 (1)
pd 98,059	41.21	6	17003485 (2), 16156666 (1), 17197157 (1), 17002919 (1)
procollagen	25.84	1	17889631 (1)
phosphorothioate	20.42	4	12761881 (2), 15840021 (1)
nitric oxide	5.30	3	17009398 (1), 15044214 (1), 14754879 (1)
cholesterol	4.74	1	15044214 (1)
phosphatidylinositol	2.38	1	16362038 (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 (SMAD3)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SMAD3)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_005902

Sigma-Aldrich siRNA for SMAD3

Sigma-Aldrich shRNA Panels and shRNA for SMAD3

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005902

REFSEQ mRNAs for SMAD3 gene (4 alternative transcripts):

NM_001145102.1 NM_001145103.1 NM_001145104.1 NM_005902.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005902

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_001145102
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_001145102
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_001145102

Additional cDNA sequence: CR457386.1

11 DOTS entries:

DT.444186 DT.92438523 DT.100785909 DT.92010206 DT.95226593 DT.100785918 DT.121045467 DT.100785914

DT.100785915 DT.121045463 DT.91867089

24/267 AceView cDNA sequences (see all 267 ):

W77839 BM702125 N71784 AI453146 AI990600 AI754624 BM771966 BF059171

BU740565 AI807364 R32987 BF002854 BQ879956 T84905 BU607581 BM551682

BQ917888 BF058230 AW183043 AA984951 AI910705 CF541118 BQ212091 AW204834

highest scoring ESTs for SMAD3:

AA032275 AI967936 AI989895 AW008523 W72201 AA026105 AA029606 AA121225 AA122114 AA126022

Unigene Clusters for SMAD3:

SMAD family member 3

Hs.714621 [show with all ESTs], Hs.718953 [show with all ESTs]

Unigene Representative Sequences: NM_005902, BU686912

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SMAD3 (see all 11 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b	^	11a	·	11b	·	11c	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16	^	17
SP1:			-		-		-		-		-										-		-								-								-		-
SP2:																							-								-								-		-
SP3:																															-								-		-
SP4:					-		-		-		-										-		-
SP5:									-		-										-		-

About this scheme

ECgene alternative splicing isoforms for SMAD3

1 Ensembl transcript including schematic representation:

ENST00000327367

(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 )
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SMAD3 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SMAD3

¹ / ² / ³

17 probe-sets matching SMAD3 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
38944_at²^{, 3}	U95-A	1	1.00	1.00	0.89	0.77	U68019	0.80	1.00	0.91	1
51059_at²^{, 3}	U95-C	1	1.00	1.00	0.63	0.69	W72201	1.00	1.00	1.00	1
44986_s_at²^{, 3}	U95-B	1	1.00	1.00	0.88	1.45	AI989895	1.00	1.00	1.00	1
1950_s_at²^{, 3}	U95-A	1	1.00	1.00	0.84	0.79	AB004922	0.20	1.00	0.72	1
58763_at²^{, 3}	U95-C	1	1.00	1.00	0.89	1.04	AW008523	1.00	1.00	1.00	1
1433_g_at²^{, 3}	U95-A	1	1.00	1.00	0.92	0.85	U68019	0.80	1.00	0.91	1
1454_at²^{, 3}	U95-A	1	1.00	1.00	0.87	0.80	U68019	0.80	1.00	0.91	1
44841_at²^{, 3}	U95-B	1	1.00	1.00	0.84	1.42	AI967936	1.00	1.00	1.00	1
65983_at²^{, 3}	U95-C	2	1.00	0.94	0.81	1.21	AA032275	1.00	1.00	1.00	1
205398_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005902	0.60	1.00	0.82	1
205396_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BF971416	0.80	1.00	0.91	1
205397_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U76622	0.80	1.00	0.91	1
218284_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_015400	0.20	1.00	0.72	1
205398_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205396_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205397_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
218284_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SMAD3 for binary patterns associated with the probe-sets selected above

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Data from

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

CGAP SAGE TAG: GAAAAGCTCC

SOURCE GeneReport for Unigene clusters: Hs.714621 Hs.718953
Expression variation in blood from EXPOLDB for SMAD3

(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 SMAD3 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SMAD3¹	--	SMAD family member 3	94.1(n) 99.76(a)	610902 XM_848473.1 XP_853566.1
chimpanzee (Pan troglodytes)	SMAD3¹	--	SMAD family member 3	99.69(n) 100(a)	748161 XM_001159972.1 XP_001159972.1
cow (Bos taurus)	SMAD3¹	--	SMAD family member 3	92.04(n) 96.69(a)	515125 XM_873754.2 XP_878847.2
rat (Rattus norvegicus)	Smad3¹	--	SMAD family member 3	92.31(n) 100(a)	25631 NM_013095.2 NP_037227.1
mouse (Mus musculus)	Smad3^{1, 5}	9⁵	MAD homolog 3 (Drosophila)^{1, 5}	92.94(n)¹ 99.76(a)¹	17127¹ NM_016769.3¹ NP_058049.2¹ AB008192⁵ AF016189⁵ (see all 19)

About this table Species with no ortholog for SMAD3

ENSEMBL Gene Tree for SMAD3

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for SMAD3 gene

SMAD2²

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

10/864 NCBI SNPs in SMAD3 are shown (see all 864 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 355)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs3743342^1,2	A,C,F,H	65272721(+)	`TTCACC/TTTGCA`	1	--	ut3¹ ese³		8	EA NA EU WA	2036
	rs12900401^1,2	A,C,F,H	65273644(+)	`GTAACC/TGTCTT`	1	--	ut3¹		16	EA NA EU WA	1474
	rs8025774^1,2	A,C,F,H	65270330(+)	`AAGGGC/TGTTCT`	1	--	ut3¹		4	EU EA WA	418
	rs1052488^1,2	A,C,F,H	65273901(+)	`TTTAAT/CGCAGA`	1	--	ut3¹ ese³		4	EU EA WA	402
	rs8031627^1,2	A,C,F,H	65271173(+)	`TGCAGG/ACTTGG`	1	--	ut3¹ ese³		4	EU EA WA	420
	rs10438355^1,2	A,C,F,H	65274603(+)	`TGTCTC/GTGGGT`	1	--	ng3¹		4	EU EA WA	372
	rs8031440^1,2	A,C,F,H	65271033(+)	`TCCAGG/ATTTTG`	1	--	ut3¹ ese³		7	NA EU EA WA	562
	rs3743343^1,2	C,F,H	65273829(+)	`TATCAT/CAGAAA`	1	--	ut3¹		5	EA EU WA	1698
	rs3809572^1,2	C,F,H	65143828(+)	`CAGGGG/ATGGGG`	1	--	ng5¹		4	EU EA WA	420
	rs2278670^1,2	A,C,F	65271351(-)	`AAGAAG/AAGGAC`	1	--	ut3¹ ese³ trp³		4	NA EA	362

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HapMap Linkage Disequilibrium images for SMAD3 (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.)
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OMIM: 603109

UniProtKB/Swiss-Prot: SMAD3_HUMAN, P84022

Defects in SMAD3 may be a cause of colorectal cancer (CRC) [MIM:114500]

10/43 Novoseek disease relationships for SMAD3 gene (see all 43 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
renal fibrosis	51.06	1	18032789 (1)
keloid	49.32	10	17889631 (4), 11496185 (3), 17144456 (2), 16676428 (1)
liver fibrosis	48.09	1	15099469 (1)
leukemogenesis	40.28	6	15295048 (3), 10611754 (1)
cancer	35.50	24	16474430 (2), 17881189 (2), 15904468 (1), 15084245 (1) (see all 17)
scars hypertrophic	33.81	6	11955370 (5)
multiple endocrine neoplasia type 1	33.39	1	12161532 (1)
tumors	32.10	55	12161532 (6), 17908958 (3), 18095113 (2), 18714394 (2) (see all 23)
pancreatic cancer	30.58	1	16714330 (1)
adenocarcinoma clear cell	29.10	2	16820918 (1)

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Human Gene Mutation Database: SMAD3
Genetic Association Database: SMAD3
Human Genome Epidemiology Navigator: SMAD3 (15 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/604 PubMed articles for SMAD3 gene (see all 604 ):

Mad-related genes in the human. (PubMed id 8673135)^{2, 3, 4} Riggins G.J....Vogelstein B. (1996)
Receptor-associated Mad homologues synergize as effectors of the TGF-beta response. (PubMed id 8774881)^{2, 3, 4} Zhang Y....Derynck R. (1996)
The mechanism of nuclear export of Smad3 involves exportin 4 and Ran. (PubMed id 16449645)^{1, 3, 4} Kurisaki A.... Moustakas A. (2006)
Novel function of androgen receptor-associated protein 55/Hic-5 as a negative regulator of Smad3 signaling. (PubMed id 15561701)^{1, 3, 4} Wang H.... Danielpour D. (2005)
Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control. (PubMed id 12154125)^{1, 3, 4} Qin B.Y.... Lin K. (2002)
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)
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, 6} Watanabe Y.... Yoshiura K. (2002)
Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers. (PubMed id 9464505)^{1, 3, 4} Arai T.... Yuasa Y. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
DACH1 inhibits transforming growth factor-beta signaling through binding Smad4. (PubMed id 14525983)^{3, 4} Wu K.... Pestell R.G. (2003)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4088	HGNC: 6769	AceView: SMAD3	Ensembl:ENSG00000166949	euGenes: HUgn4088
ECgene: SMAD3	H-InvDB: SMAD3

(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 SMAD3	Genetics and Cytogenetics in Oncology and Haematology

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SMAD3 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for SMAD3

Summaries
for SMAD3

Genomic Location
for SMAD3

Proteins
for SMAD3

Protein Domains/
Families
for SMAD3

Gene Function
for SMAD3

Pathways & Interactions
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Drugs & Compounds
for SMAD3

Transcripts
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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

SMAD3 (Gene Symbol)
DKFZp586N0721
DKFZp686J10186
HSPC193
HsT17436
JV15-2
MADH3
MGC60396
Mad3
hMAD-3
hSMAD3
MAD, mothers against decapentaplegic homolog 3
MAD, mothers against decapentaplegic homolog 3 (Drosophila)
Mothers against DPP homolog 3
SMA- and MAD-related protein 3
SMAD 3
SMAD family member 3
SMAD, mothers against DPP homolog 3
SMAD, mothers against DPP homolog 3 (Drosophila)
mad homolog JV15-2
mad protein homolog
mothers against decapentaplegic homolog 3

SMAD3 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor SMAD3

Summariesfor SMAD3

Genomic Locationfor SMAD3

Proteinsfor SMAD3

Protein Domains/Familiesfor SMAD3

Gene Functionfor SMAD3

Pathways & Interactionsfor SMAD3

Drugs & Compoundsfor SMAD3

Transcriptsfor SMAD3

Expression for SMAD3

Orthologsfor SMAD3

Paralogsfor SMAD3

SNPs/Variantsfor SMAD3

Disorders & Mutationsfor SMAD3

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Publicationsfor SMAD3

Search for SMAD3

Genome Databases showing SMAD3

Other Databases showing SMAD3

Specialized Databases showing SMAD3

Licensable Technologiesfor SMAD3

Servicesfor SMAD3

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 SMAD3

Summaries
for SMAD3

Genomic Location
for SMAD3

Proteins
for SMAD3

Protein Domains/
Families
for SMAD3

Gene Function
for SMAD3

Pathways & Interactions
for SMAD3

Drugs & Compounds
for SMAD3

Transcripts
for SMAD3

Expression
for SMAD3

Orthologs
for SMAD3

Paralogs
for SMAD3

SNPs/Variants
for SMAD3

Disorders & Mutations
for SMAD3

Medical News
for SMAD3

Publications
for SMAD3

Licensable Technologies
for SMAD3

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