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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
SMAD7 4092 SMAD family member 7  18CRCS3; MADH7; MADH8 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
23104301   2012Cell line : -

Source : -

Sample Type : Case cnotrol study

No. of Sample : 1509 CRC cases and 2307 controls

Stage : -

TaqMan assay, Logistic regression Mutation-The minor allele (G) of rs4939827, a SMAD7 (18q21) intronic variant, is associated with a lower risk of developing colorectal cancer (CRC) and poorer survival after diagnosis.

Individuals with this SMAD7 variant that develop CRC are more probably to have tumors with greater invasiveness and methylation of RUNX3, which potentially contributes to their poorer observed survival.

21102417   2011Cell line : -

Source : University Clinic Schleswig-Holstein, Campus L?beck.

Sample Type : -

No. of Sample : Adenoma specimens 18 patients without synchronous or subsequent carcinoma and from 23 patients with synchronous carcinoma, as well as 6 related carcinoma samples

Stage : TNM Stage I-IV

Multicolor FISH, Immunohistochemistry, Hedley MethodMutation-Smad 7 genomic instability identified.

19395656   2009Cell line : -

Source : -

Sample Type : -

No. of Sample : -

Stage : -

Genotyping, EMSA Polymorhpism-The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression.

A novel C to G single nucleotide polymorphism (SNP) at 44,703,563 bp was maximally associated with CRC risk.

21221812   2011Cell line : -

Source : Han Chinese population.

Sample Type : -

No. of Sample : 641 cases and 1037 controls

Stage : -

Genome-wide association.Polymorhpism-SMAD7 has been demonstrated to antagonize TGF-B-mediated fibrosis, carcinogenesis, and inflammation.

rs12953717 SNP of Smad7 was strongly associated with the colorectal, gastric, and lung cancers.

21910156   2011Cell line : -

Source : Institute of Cancer Research,The National Study of Colorectal Cancer Genetics (NSCCG) and Royal Marsden Hospital Trust/Institute of Cancer Research Family History and DNA Registry.

Sample Type : Case control study

No. of Sample : 2532 CRC cases and 2607 healthy

Stage : -

GenotypingPolymorhpism-727 cases were genotyped for two GWAS hits in SMAD7 with minor allele frequency > 30%, one with minor allele associated with decreased risk (rs4939827) and one with minor allele associated with increased risk (rs4464148).

SMAD7 variants known to be important for CRC risk were associated with disease-specific survival among prediagnostic NSAID users.

Case-control study of CRC incidence from 13 counties in Washington State of eligible women, ages 50-74 years.

22580541   2012Cell line : -

Source : Han Chinese population.

Sample Type : Case control study

No. of Sample : -

Stage : -

Cox regression analysis.Polymorhpism-The minor allele in rs4939827 (SMAD7) was associated with reduced overall survival and disease-specific survival.

A variant in SMAD7 could affect progression of CRC.

25640388   2015Cell line : -

Source : 13 counties in Washington State

Sample Type : -

No. of Sample : 727 cases and control

Stage : -

Genotyping of SNPsy PCR-RFLPPolymorhpism-Significant association between CRC risk and the rs4464148 AG genotype.

22457752   2012Cell line : -

Source : -

Sample Type : Case control study

No. of Sample : 2611 CRC case

Stage : -

Meta-analysis, TaqMan SNP Genotyping Assay , RT-PCRUnknown-Significant association of the variant rs4939827 with increased risk of colorectal cancer.males were 59.9% among cases compared with 59.1% among controls.

18781153   2008Cell line : -

Source : Iranian individuals

Sample Type : Population based case- control study

No. of Sample : CRC among 487 Iranian individuals

Stage : -

PCR, ImmunohistochemistryUp-regulation-Upregulation of smad7 induces hepatic metastasis in colorectal cancer.

Overexpression of Smad7 in colon adenocarcinoma (FET) cells induces tumorigenicity by blocking TGF-beta-induced growth inhibition and apoptosis.


Gene Details



Chromosome: 18; NC_000018.9 (46446223..46477081, complement)

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Gene Type protein coding
Gene Family SMADs
Description The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]  
Chromosome 18
Location 18q21.1
Start 48919853  
End 48950711  
Strand -  
Gene Sequence

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Length 30859  
OMIM ID 602932   
HGNC ID HGNC:6773   
Unigene ID Hs.465087    
Ensembl ID ENSG00000101665   
PharmGKB ID PA30530   

mRNA Information


mRNA ID NM_001190821.1
Exon join(1..900,2275..2328,8160..8231,28802..30859)  
mRNA Sequence

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Length 3085  



CDS Information


   
Location join(288..900,2275..2328,8160..8231,28802..29340)
CDS Sequence

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CCDS ID -



Protein Information


      
Protein IDNP_001177750.1
Protein NameSMAD family member 7
Molecular Wt. (Da)46224
Protein Sequence

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Length 425  
Uniprot IDP11802
Ensembl Protein ID ENSP00000257904  



Post-translational Modification Information (Source : HPRD)


Residue Type site
KAcetylation64
KAcetylation70

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                                                                                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
91ACVR1B3193NP_004293.1in vivo12023024   
1432MAPK142619NP_001306.1in vitro;in vivo12589052   
2033EP3004078NP_001420.2in vitro;in vivo12408818   
4091SMAD64240NP_005576.3in vitro;in vivo;yeast 2-hybrid9256479   
4654MYOD11166NP_002469.2yeast 2-hybrid15231748   
5606MAP2K33816NP_659732.1in vitro;in vivo12589052   
5608MAP2K63155NP_002749.2in vivo12589052   
6660SOX518086NP_008871.3yeast 2-hybrid15231748   
6885MAP3K74011NP_663304.1in vivo12589052   
7046TGFBR11822NP_004603.1in vitro;in vivo921   563   815   148   321   
7048TGFBR21823NP_001020018.1in vitro;in vivo11163210   
7270TTF12866NP_031370.2yeast 2-hybrid15231748   
8458TTF25280NP_003585.3yeast 2-hybrid15231748   
9580SOX139205AAC83687.1yeast 2-hybrid15231748   
10454MAP3K7IP14012NP_006107.1in vivo11737269   
27107ZBTB1115690NP_055230.2yeast 2-hybrid15231748   
29068ZBTB4413692NP_054874.3yeast 2-hybrid15231748   
51427ZNF10718669NP_001013768.1yeast 2-hybrid15231748   
55870ASH1L6416NP_060959.2yeast 2-hybrid15231748   


Pathway Information


            
Pathway Name Pathway ID
Hippo signaling pathway hsa04390
TGF-beta signaling pathway hsa04350


Structure Information


PDB ID2DJY
Resolution-
Methodsolution NMR
Chains A  
Molecule Smad ubiquitination regulatory factor 2  
Model View



Domain Information




ID Location Description
cd10500254-424  MH2_SMAD_7
cl00056254-424  MH2 superfamily
cd1049460-205  MH1_SMAD_7
cl0005560-205  MH1 superfamily
cd10496261-424  MH2_I-SMAD
cd10499256-424  MH2_SMAD_6
pfam03166259-426  MH2
smart00524260-424  DWB
cd00050261-424  MH2
smart0052389-205  DWA
cd1048989-205  MH1_SMAD_6_7
pfam0316592-202  MH1
cd1049389-205  MH1_SMAD_6
cd0004989-202  MH1
cd10495261-421  MH2_R-SMAD
cd10498260-421  MH2_SMAD_4
cd10985261-424  MH2_SMAD_2_3
cd10497260-424  MH2_SMAD_1_5_9
cd1048898-201  MH1_R-SMAD
cd1049298-200  MH1_SMAD_4
cd1049198-201  MH1_SMAD_2_3
cd1049098-201  MH1_SMAD_1_5_9


Ontology Information


   
HPRD ID2867
Molecular ClassTranscription regulatory protein
Molecular FunctionKinase regulator activity (GO:0019207)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO