Gene: SMAD6
Alternate names for this Gene: AOVD2|HsT17432|MADH6|MADH7
Gene Summary: The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.
Gene is located in Chromosome: 15
Location in Chromosome : 15q22.31
Description of this Gene: SMAD family member 6
Type of Gene: protein-coding
rs12594720 in
SMAD6 gene and
Adenocarcinoma of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
Adenoma of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
rs6494597 in
SMAD6 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12594720 in
SMAD6 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs570279865 in
SMAD6 gene and
CRANIOSYNOSTOSIS 7
PMID 27606499 2016 Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
rs1866745 in
SMAD6 gene and
Carpal Tunnel Syndrome
PMID 30833571 2019 A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.
rs12594720 in
SMAD6 gene and
Colorectal Carcinoma
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
Colorectal Neoplasms
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs76912608 in
SMAD6 gene and
Finding of Mean Corpuscular Hemoglobin
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs3809570 in
SMAD6 gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs12594720 in
SMAD6 gene and
Malignant neoplasm of large intestine
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs12594720 in
SMAD6 gene and
Malignant tumor of colon
PMID 30510241 2019 Discovery of common and rare genetic risk variants for colorectal cancer.
PMID 31089142 2019 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
rs8040232 in
SMAD6 gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1440374 in
SMAD6 gene and
Vital capacity
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1440372 in
SMAD6 gene and
Waist-Hip Ratio
PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.
PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.