Gene: SMAD7

Alternate names for this Gene: CRCS3|MADH7|MADH8

Gene Summary: 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.

Gene is located in Chromosome: 18

Location in Chromosome : 18q21.1

Description of this Gene: SMAD family member 7

Type of Gene: protein-coding

rs11874392 in SMAD7 gene and Adenocarcinoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs11874392 in SMAD7 gene and Adenoma of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

rs9953366 in SMAD7 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs11874392 in SMAD7 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs11874392 in SMAD7 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs11874392 in SMAD7 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs11874392 in SMAD7 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs11874392 in SMAD7 gene and Colorectal Carcinoma PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 19011631 2008 Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

PMID 17934461 2007 Across the four sample sets, the association between rs4939827 and CRC was highly statistically significant (P(trend) = 1.0 x 10(-12)).

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 24448986 2014 SNPs rs7229639 and rs4939827 explained approximately 1% of the familial relative risk of CRC in East Asians.

rs11874392 in SMAD7 gene and Colorectal Neoplasms PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs2337106 in SMAD7 gene and Creatinine measurement, serum (procedure) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12956924 in SMAD7 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs57633475 in SMAD7 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4939827 in SMAD7 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2337106 in SMAD7 gene and Glomerular Filtration Rate PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs2337106 in SMAD7 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2878889 in SMAD7 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11874392 in SMAD7 gene and Malignant neoplasm of large intestine PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 18372901 2008 Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

rs11874392 in SMAD7 gene and Malignant tumor of colon PMID 27207650 2016 Genome-wide association study of colorectal cancer in Hispanics.

PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.

PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

PMID 29471430 2018 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.

PMID 21761138 2012 Meta-analysis of new genome-wide association studies of colorectal cancer risk.

PMID 29917119 2019 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

PMID 30529582 2019 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.

PMID 17934461 2007 A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

PMID 18372901 2008 Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009).

PMID 26965516 2016 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.

PMID 23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.

PMID 26151821 2015 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.

PMID 30104761 2018 Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.

PMID 25990418 2015 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.

PMID 24448986 2014 Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians.

PMID 24836286 2014 Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.

rs4939827 in SMAD7 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs9946510 in SMAD7 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2337106 in SMAD7 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs9946510 in SMAD7 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.