LongevityMap Gene
Gene details
- HGNC symbol
- DEAF1
- Aliases
- SPN; NUDR; MRD24; ZMYND5
- Common name
- DEAF1, transcription factor
- Description
- This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
- Cytogenetic Location
- 11p15.5
- UCSC Genome Browser
- View 11p15.5 on the UCSC genome browser
- OMIM
- 602635
- Ensembl
- ENSG00000177030
- UniProt/Swiss-Prot
- DEAF1_HUMAN
- Entrez Gene
- 10522
- UniGene
- 243994
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 0/1
- Longevity Association
- Non-significant
- Population
- European
- Study Design
- The chromosomal region 11p.15.5 was investigated in 1321 centenarians and 1140 younger subjects from European samples
- Conclusions
- A meta-analysis approach revealed suggestive signals in 6 SNPs
- Indentifier
- rs4073591
- Reference