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

Danio rerio
smad7
Mus musculus
Smad7
Rattus norvegicus
Smad7

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