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SMAD2 Gene

protein-coding GIFtS: 66

GC18M043621

SMAD family member 2
(Previous names: MAD, mothers against decapentaplegic homolog 2 (Drosophila), SMAD, mothers against DPP homolog 2 (Drosophila) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MADH2)

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

Aliases
JV18 ^², ⁵
JV18-1 ^¹, ², ³
MADH2 ^², ³, ⁵
MADR2 ^¹, ², ³
MGC22139 ^²
MGC34440 ^²
hMAD-2 ^², ³
hSMAD2 ^², ³

Descriptions
MAD, mothers against decapentaplegic homolog 2 (Drosophila) ^¹
Mad protein homolog ^²
Mad, mothers against decapentaplegic homolog 2 ^²
Mad-related protein 2 ^², ³
Mothers against DPP homolog 2 ^³
SMAD 2 ^³
SMAD family member 2 ^²
SMAD, mothers against DPP homolog 2 ^²
SMAD, mothers against DPP homolog 2 (Drosophila) ^¹
Sma- and Mad-related protein 2 ^²
mother against DPP homolog 2 ^²

External Ids
HGNC: 6768¹
Entrez Gene: 4087²
UniProtKB: Q15796³
Ensembl: ENSG00000175387⁷

Search outside databases for aliases for SMAD2 gene

Previous GC identifer: GC18M043620

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

EntrezGene summary for SMAD2:

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 mediates the signal of the transforming growth factor

(TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis,

and differentiation. This protein is recruited to the TGF-beta receptors through its interaction

with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this

protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation

of this protein with SARA and the association with the family member SMAD4. The association with

SMAD4 is important for the translocation of this protein into the nucleus, where it binds to

target promoters and forms a transcription repressor complex with other cofactors. This protein

can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the

activin. Alternatively spliced transcript variants encoding the same protein have been observed.

[provided by RefSeq]

UniProtKB/Swiss-Prot: SMAD2_HUMAN, Q15796

Function: Transcriptional modulator activated by TGF-beta and activin type 1 receptor kinase. SMAD2

is a receptor-regulated SMAD (R-SMAD). May act as a tumor suppressor in colorectal carcinoma

Gene Wiki entry for SMAD2 (Mothers_against_decapentaplegic_homolog_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 SMAD2 gene

Entrez Gene cytogenetic band: 18q21.1 Ensembl cytogenetic band: 18q21.1 HGNC cytogenetic band: 18q21

SMAD2 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 18 GeneLoc Exon Structure

GeneLoc location for GC18M043621: (about GC identifiers)

Start:	43,613,464 bp from pter
End:	43,711,510 bp from pter
Size:	98,047 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000018.8 NT_010966.13

(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: SMAD2_HUMAN, Q15796 (See protein sequence)

Recommended Name: Mothers against decapentaplegic homolog 2

Size: 467 amino acids; 52306 Da

Subunit: Found in a complex with SMAD3 and TRIM33 upon addition of TGF-beta. Interacts with SMAD3

and TRIM33. Interacts with SARA (SMAD anchor for receptor activation); may form trimers with the

SMAD4 co-SMAD. Interacts with FOXH1, homeobox protein TGIF, PEBP2-alpha subunit, CREB-binding

protein (CBP), EP300 and SKI. Interacts with SNON; when phosphorylated at Ser-465/467. Interacts

(via PY-motif) with SMURF2. Interacts with AIP1 and HGS. Interacts with NEDD4L in response to

TGF-beta (By similarity). Interacts with LBXCOR1 and CORL2

Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to

the nucleus when complexed with SMAD4

PDB structures from and Proteopedia :

1DEV (3D)

1KHX (3D)

1U7V (3D)

Alternative splicing: 2 isoforms: Q15796-1 Q15796-2

Post-translational modifications:

Phosphorylated on one or several of Thr-220, Ser-245, Ser-250, and Ser-255. In response to

TGF-beta, phosphorylated on Ser-465/467 by TGF-beta and activin type 1 receptor kinases. Able to

interact with SMURF2 when phosphorylated on Ser-465/467, recruiting other proteins, such as SNON,

for degradation. In response to decorin, the naturally occurring inhibitor of TGF-beta signaling,

phosphorylated on Ser-240 by CaMK2. Phosphorylated by MAPK3 upon EGF stimulation; which increases

transcriptional activity and stability, and is blocked by calmodulin¹

In response to TGF-beta, ubiquitinated by NEDD4L; which promotes its degradation (By similarity)¹

Acetylated on Lys-19 by coactivators in response to TGF-beta signaling, which increases

transcriptional activity. Isoform short: Acetylation increases DNA binding activity in vitro and

enhances its association with target promoters in vivo¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001003652.1 NP_001129409.1 NP_005892.1

ENSEMBL proteins:

ENSP00000384449 ENSP00000262160 ENSP00000349282

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	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 (Smad2, Smad2 +Smad3)
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Proteins (see all 2): SMAD2

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	EXP	10549282
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	EXP	9311995 9865696 11100470

About this table

Antibodies for SMAD2:

	Invitrogen Antibodies for SMAD2
	Millipore Mono- and Polyclonal Antibodies for the study of SMAD2
	Sigma-Aldrich Antibodies for SMAD2
	R&D Systems Antibodies for SMAD2
	Cell Signaling Technology (CST) Antibodies for SMAD2
	Antibodies from Abcam (Smad2, Smad2 +Smad3), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (SMAD2)
	Novus Biologicals Antibodies for SMAD2

Assays for SMAD2:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of SMAD2
	Browse R&D Systems for biochemical assays
	Cell Signaling Technology (CST) Sandwich ELISA Kits for SMAD2
	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 Q15796

ProtoNet protein and cluster: Q15796

1 Blocks protein family: IPB001132 Dwarfin protein

UniProtKB/Swiss-Prot: SMAD2_HUMAN, Q15796

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.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SMAD2)
		Millipore RNAi Products for the Analysis of SMAD2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (SMAD2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001003652

Applied Biosystems Silencer® siRNAs for SMAD2

Sigma-Aldrich siRNA for SMAD2

Sigma-Aldrich shRNA for SMAD2

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SMAD2
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001003652
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001003652
untagged cDNA clones in CMV expression vector (see all 3): NM_001003652

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_005901

UniProtKB/Swiss-Prot: SMAD2_HUMAN, Q15796

Function: Transcriptional modulator activated by TGF-beta and activin type 1 receptor kinase. SMAD2

is a receptor-regulated SMAD (R-SMAD). May act as a tumor suppressor in colorectal carcinoma

15/22 MGI mutant phenotypes (inferred from 19 alleles) (MGI details for Smad2) (see all 22 ):

	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	liver/biliary system	nervous system

5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003690	double-stranded DNA binding	ISS	--
GO:0003700	transcription factor activity	IEA	--
GO:0008134	transcription factor binding	IPI	9702198
GO:0010843	promoter binding	IDA	17438144
GO:0016563	transcription activator activity	ISS	--

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

5/8 Sigma-Aldrich "Your Favorite Gene" Pathways for SMAD2 (Your Favorite Gene powered by Ingenuity) (see all 8 )

PPAR&alpha
Hepatic Fibrosis / Hepatic Stellate Cell Activation
Factors Promoting Cardiogenesis in Vertebrates
Molecular Mechanisms of Cancer
TGF-&beta

GeneDecks SMAD2 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for SMAD2

5/249 Interacting proteins for SMAD2 (ENSP00000262160³ Q15796²) via UniProtKB, MINT, and/or STRING (see all 249 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD4	Q13485²	STRING (score=.999) MINT-6799119 MINT-15900 MINT-61945
MED15	Q96RN5²	STRING (score=.979) MINT-17344 MINT-17343
SMURF2	Q9HAU4²	STRING (score=.999) MINT-60925 MINT-61781
ZFYVE9	O95405²	STRING (score=.999) MINT-62035 MINT-6799207
CREBBP	Q92793²	STRING (score=.992) MINT-61587

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001707	mesoderm formation	ISS	--
GO:0007183	SMAD protein complex assembly	IDA	9111321
GO:0007242	intracellular signaling cascade	ISS	--
GO:0007352	zygotic determination of dorsal/ventral axis	IMP	9436979
GO:0007369	gastrulation	TAS	19018011

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 SMAD2
10/16 Novoseek chemical compound relationships for SMAD2 gene (see all 16 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tgf beta1	75.47	31	16949833 (4), 11424093 (2), 16253118 (2), 16871886 (2) (see all 20)
threonine	59.53	4	15210694 (1), 17270292 (1), 11106403 (1), 15702493 (1)
pd 98,059	49.20	4	17124250 (2), 10652224 (1), 15372629 (1)
sphingosylphosphorylcholine	34.96	12	17481939 (3), 17105765 (3)
procollagen	25.29	1	17051103 (1)
monocrotaline	19.42	1	17392319 (1)
matrigel	10.73	1	14728942 (1)
potassium	4.39	1	15087470 (1)
nitric oxide	2.98	7	19073841 (2), 18068196 (1), 12411395 (1), 17427197 (1)
tyrosine	1.78	5	16949833 (2), 11027280 (1), 11782399 (1), 17638924 (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 (SMAD2)
		Millipore RNAi Products for the Analysis of SMAD2 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (SMAD2)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001003652

Sigma-Aldrich siRNA for SMAD2

Sigma-Aldrich shRNA for SMAD2

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001003652 NM_001135937 NM_005901

REFSEQ mRNAs for SMAD2 gene (3 alternative transcripts):

NM_001003652.2 NM_001135937.1 NM_005901.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001003652 NM_001135937 NM_005901

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001003652
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001003652
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001003652

Additional cDNA sequence:

AF027964.1 AK126373.1 AK299218.1 AK312963.1 AY134745.1 BC014840.1 BC025699.1 BT007422.1

CR592338.1 CR595841.1 CR621595.1 U59911.1 U65019.1 U68018.1

16 DOTS entries:

DT.454498 DT.97809192 DT.100816065 DT.97822192 DT.95369913 DT.121097527 DT.100022688 DT.100816060

DT.65284280 DT.100816063 DT.100800384 DT.101973205 DT.121097501 DT.121097530 DT.91996304 DT.95171474

24/247 AceView cDNA sequences (see all 247 ):

AA406375 BT007422 BM721481 AA889967 CR595841 AI399862 AI091738 BQ639008

CB216465 AI268301 AW138988 BU167620 AI360313 BU145704 BX332213 BC014840

CB148147 AA283890 AW772431 BQ022042 AA279847 AA594363 BI759260 BC025699

highest scoring ESTs for SMAD2:

AA081871 AA411316 AF027964 AI360313 AI572508 AI765747 AI952417 AU122337 AW772431 BC025699

Unigene Cluster for SMAD2:

SMAD family member 2

Hs.12253 [show with all ESTs]

Unigene Representative Sequence: NM_001003652

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SMAD2 (see all 13 )

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

ExUns:	15	^	16	^	17a	·	17b
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for SMAD2

3 Ensembl transcripts including schematic representations:

ENST00000402690 ENST00000262160 ENST00000356825

(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

SMAD2 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SMAD2

¹ / ² / ³

19 probe-sets matching SMAD2 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
57493_at²^{, 3}	U95-B	1	1.00	1.00	0.82	1.34	AA081871	0.80	1.00	0.91	1
90267_at²^{, 3}	U95-E	1	1.00	1.00	0.86	0.78	R34988	0.60	1.00	0.82	1
1928_s_at²^{, 3}	U95-A	1	1.00	1.00	0.83	0.81	U78733	0.20	1.00	0.72	1
1453_at²^{, 3}	U95-A	1	1.00	1.00	0.89	1.12	U68018	0.80	1.00	0.91	1
50764_at²^{, 3}	U95-B	1	1.00	1.00	0.85	0.84	AI765747	0.80	1.00	0.91	1
70271_at²^{, 3}	U95-E	1	0.94	1.00	0.70	0.82	AI719083	0.60	1.00	0.82	1
53730_at²^{, 3}	U95-B	1	0.88	1.00	0.91	1.30	W60775	0.80	0.80	0.80	1
226563_at²^{, 3}	U133-B	1	1.00	1.00	--	--	BF793454	0.60	0.75	0.68	1
203076_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U65019	0.60	1.00	0.82	1
203075_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AW151617	0.60	1.00	0.82	1
235598_at²^{, 3}	U133-B	1	1.00	1.00	--	--	AI765747	0.80	1.00	0.91	1
203077_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005901	0.60	1.00	0.82	1
239271_at²^{, 3}	U133-B	1	0.91	1.00	--	--	AV698619	0.20	1.00	0.72	1
226563_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203076_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203075_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
235598_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203077_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
239271_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--

About this table

Data from

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

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.12253
Expression variation in blood from EXPOLDB for SMAD2
UniProtKB/Swiss-Prot: SMAD2_HUMAN, Q15796
Tissue specificity: Expressed at high levels in skeletal muscle, heart and placenta

(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 SMAD2 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SMAD2¹	--	SMAD family member 2	93.65(n) 100(a)	480144 XM_847706.1 XP_852799.1
chimpanzee (Pan troglodytes)	SMAD2¹	--	SMAD family member 2	99.71(n) 100(a)	455407 XM_001149364.1 XP_001149364.1
cow (Bos taurus)	SMAD2¹	--	SMAD family member 2	94.79(n) 99.79(a)	516010 NM_001046218.1 NP_001039683.1
rat (Rattus norvegicus)	Smad2¹	--	SMAD family member 2	91.36(n) 99.36(a)	29357 NM_019191.1 NP_062064.1
mouse (Mus musculus)	Smad2^{1, 5}	18 (48.00 cM)⁵	MAD homolog 2 (Drosophila)^{1, 5}	92.22(n)¹ 99.57(a)¹	17126¹ NM_010754.3¹ NP_034884.2¹ AF005743⁵ AK007817⁵ (see all 11)

About this table Species with no ortholog for SMAD2

ENSEMBL Gene Tree for SMAD2

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

Paralogs for SMAD2 gene

SMAD3²

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

10/514 NCBI SNPs in SMAD2 are shown (see all 514 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 157)

AB	SNP ID	Valid	Chr 18 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1981^1,2	A,C,F,H	43614989(-)	`CCTTTC/TAGCAA`	3	--	ut3¹		11	MN NA EU EA WA	1012
	rs1792671^1,2	A,C,F,H	43616192(-)	`TTTTAG/ATTAAA`	3	--	ut3¹		8	MN EU EA WA NA	742
	rs8098413^1,2	A,C,F,H	43616719(+)	`AGTAAC/TGGGGT`	3	--	ut3¹		8	EU EA WA NA	630
	rs1792666^1,2	C,F,H,O	43617212(-)	`GCAAAT/ATATCT`	3	--	ut3¹		11	NA MN EU EA WA	868
	rs8085335^1,2	A,C,F,H	43617287(+)	`TATAAA/GAAGAA`	3	--	ut3¹		11	EU EA WA NA	978
	rs4940109^1,2	A,C,F,H	43712076(+)	`GGTAGA/GGGATG`	2	--	ng3¹		4	EU EA WA	418
	rs8671^1,2	A,C,F	43613662(-)	`CAAAAA/TAAGTT`	3	--	ut3¹		5	MN NA	502
	rs16958498^1,2	C,F,H	43614109(+)	`ATTCAC/TGGAAA`	3	--	ut3¹		7	NA EU EA WA	558
	rs2000708^1,2	A,F,H	43713416(+)	`CTCCTA/GTGTGA`	1	--	ng3¹		4	EU EA WA	418
--	rs16958495^1,2	C,F,H	43614010(+)	`AGTATG/AAGGCT`	3	--	ut3¹		7	NA EU EA WA	546

About this table

HapMap Linkage Disequilibrium images for SMAD2 (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: 601366

UniProtKB/Swiss-Prot: SMAD2_HUMAN, Q15796

Defects in SMAD2 are found in sporadic cases of colorectal carcinoma

10/46 Novoseek disease relationships for SMAD2 gene (see all 46 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
pancreatic cancer	53.06	7	10505717 (5), 15249209 (1), 10781087 (1)
keloid	45.29	9	17051103 (4), 17144456 (2), 15453837 (1), 15978417 (1)
scars hypertrophic	39.70	7	11955370 (5), 18616749 (1)
tumors	38.47	71	11391794 (4), 12894231 (3), 10781087 (3), 11438451 (3) (see all 43)
colorectal cancer	35.45	21	15711891 (2), 9635866 (2), 12967141 (2), 9264367 (1) (see all 12)
cancer	35.15	29	10505717 (2), 12237237 (2), 9006934 (2), 9264367 (1) (see all 23)
adenocarcinoma clear cell	28.58	2	16820918 (1)
pancreatic carcinoma	26.60	9	9892110 (2), 12140283 (1)
colorectal tumors	22.54	1	10340381 (1)
carcinoma	20.69	5	12017275 (2), 11215281 (1), 11438451 (1), 16055724 (1)

About this table

Human Gene Mutation Database: SMAD2
Genetic Association Database: SMAD2
Human Genome Epidemiology Navigator: SMAD2 (8 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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10/582 PubMed articles for SMAD2 gene (see all 582 ):

Mad-related genes in the human. (PubMed id 8673135)^{2, 3, 4} Riggins G.J....Vogelstein B. (1996)
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. (PubMed id 8752209)^{2, 3, 4} Eppert K.... Attisano L. (1996)
Modulation of Smad2-mediated signaling by extracellular signal- regulated kinase. (PubMed id 12193595)^{1, 3, 4} Funaba M.... Mathews L.S. (2002)
Alternatively spliced variant of Smad2 lacking exon 3. Comparison with wild-type Smad2 and Smad3. (PubMed id 9873005)^{1, 3, 4} Yagi K.... Miyazono K. (1999)
Characterization of the MADH2/Smad2 gene, a human Mad homolog responsible for the transforming growth factor-beta and activin signal transduction pathway. (PubMed id 9503010)^{1, 3, 4} Takenoshita S.... Hagiwara K. (1998)
Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible transcriptional complexes. (PubMed id 9389648)^{1, 3, 4} Liu F.... Massague J. (1997)
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)
Decorin suppresses transforming growth factor-beta-induced expression of plasminogen activator inhibitor-1 in human mesangial cells through a mechanism that involves Ca2+-dependent phosphorylation of Smad2 at serine-240. (PubMed id 11879191)^{1, 3, 4} Abdel-Wahab N.... Chantry A. (2002)
TGF-beta induces assembly of a Smad2-Smurf2 ubiquitin ligase complex that targets SnoN for degradation. (PubMed id 11389444)^{1, 3, 4} Bonni S....Wrana J.L. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4087	HGNC: 6768	AceView: SMAD2	Ensembl:ENSG00000175387	euGenes: HUgn4087
ECgene: SMAD2	H-InvDB: SMAD2

(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 SMAD2	Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies for SMAD2
(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,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for SMAD2:

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Antibodies & Assays for SMAD2

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SMAD2 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for SMAD2

Summaries
for SMAD2

Genomic Location
for SMAD2

Proteins
for SMAD2

Protein Domains/
Families
for SMAD2

Gene Function
for SMAD2

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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

SMAD2 (Gene Symbol)
JV18
JV18-1
MADH2
MADR2
MGC22139
MGC34440
hMAD-2
hSMAD2
MAD, mothers against decapentaplegic homolog 2 (Drosophila)
Mad protein homolog
Mad, mothers against decapentaplegic homolog 2
Mad-related protein 2
Mothers against DPP homolog 2
SMAD 2
SMAD family member 2
SMAD, mothers against DPP homolog 2
SMAD, mothers against DPP homolog 2 (Drosophila)
Sma- and Mad-related protein 2
mother against DPP homolog 2

SMAD2 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor SMAD2

Summariesfor SMAD2

Genomic Locationfor SMAD2

Proteinsfor SMAD2

Protein Domains/Familiesfor SMAD2

Gene Functionfor SMAD2

Pathways & Interactionsfor SMAD2

Drugs & Compoundsfor SMAD2

Transcriptsfor SMAD2

Expression for SMAD2

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SNPs/Variantsfor SMAD2

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Publicationsfor SMAD2

Search for SMAD2

Genome Databases showing SMAD2

Other Databases showing SMAD2

Specialized Databases showing SMAD2

Licensable Technologiesfor SMAD2

Servicesfor SMAD2

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 SMAD2

Summaries
for SMAD2

Genomic Location
for SMAD2

Proteins
for SMAD2

Protein Domains/
Families
for SMAD2

Gene Function
for SMAD2

Pathways & Interactions
for SMAD2

Drugs & Compounds
for SMAD2

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for SMAD2

Expression
for SMAD2

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for SMAD2

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for SMAD2

SNPs/Variants
for SMAD2

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for SMAD2

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for SMAD2

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for SMAD2

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for SMAD2

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