SMAD7 SMAD family member 7
Gene ID: 4092, updated on 27-Aug-2024Gene type: protein coding
Also known as: CRCS3; MADH7; MADH8
- See all available tests in GTR for this gene
- Go to complete Gene record for SMAD7
- Go to Variation Viewer for SMAD7 variants
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. [provided by RefSeq, Jun 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. GeneReviews: Not available | |
| A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. GeneReviews: Not available | |
| Colorectal cancer, susceptibility to, 3 | See labs |
| Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. GeneReviews: Not available | |
| Genome-wide association study identifies a new SMAD7 risk variant associated with colorectal cancer risk in East Asians. GeneReviews: Not available | |
| GWAS of dental caries patterns in the permanent dentition. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. GeneReviews: Not available | |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. GeneReviews: Not available | |
| Meta-analysis of new genome-wide association studies of colorectal cancer risk. GeneReviews: Not available |
Genomic context
- Location:
- 18q21.1
- Sequence:
- Chromosome: 18; NC_000018.10 (48919853..48950965, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMAD7 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SMAD7 database
- Variation ViewerRelated Variants
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