LongevityMap Gene
Gene details
- HGNC symbol
- SMAD7
- Aliases
- CRCS3; MADH7; MADH8
- Common name
- SMAD family member 7
- 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]
- Cytogenetic Location
- 18q21.1
- UCSC Genome Browser
- View 18q21.1 on the UCSC genome browser
- OMIM
- 602932
- Ensembl
- ENSG00000101665
- UniProt/Swiss-Prot
- B3KYA8_HUMAN
- Entrez Gene
- 4092
- UniGene
- 465087
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
- Conclusions
- No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
- Indentifier
- rs4939827
- Reference