LongevityMap variant group

Entry Details

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

No homologs found

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]
Other longevity studies of this gene: 1
OMIM: 602635
Ensembl: ENSG00000177030
UniProt/Swiss-Prot: DEAF1_HUMAN
Entrez Gene: 10522
UniGene: 243994
HapMap: View on HapMap

HGNC symbol: TSPAN32
Aliases: ART1; PHMX; PHEMX; TSSC6
Common name: tetraspanin 32
Description: This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OMIM: 603853
Ensembl: ENSG00000064201
UniProt/Swiss-Prot: TSN32_HUMAN
Entrez Gene: 10077
UniGene: 271954
HapMap: View on HapMap