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

Variants (6)

No gene

1.
Identifier
rs11040489
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
2.
Identifier
rs4930001
Cytogenetic Location
11p15.5
UCSC Genome Browser
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CD81-AS1

1.
Identifier
rs16928120
Cytogenetic Location
11p15.5
UCSC Genome Browser
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Gene details

HGNC symbol
CD81-AS1
Aliases
 
Common name
CD81 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000238184
UniProt/Swiss-Prot
Entrez Gene
101927682
UniGene
675920
HapMap
View on HapMap

Homologs in model organisms

No homologs found

DEAF1

1.
Identifier
rs4073591
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
2.
Identifier
rs4073590
Cytogenetic Location
11p15.5
UCSC Genome Browser
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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]
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

Homologs in model organisms

Danio rerio
zgc:194895
Drosophila melanogaster
Deaf1
Mus musculus
Deaf1
Rattus norvegicus
Deaf1

TSPAN32

1.
Identifier
rs800140
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Mus musculus
Tspan32
Rattus norvegicus
Tspan32

References

Lescai et al. (2009)

Other variants which are also part of this study