LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Italian
Study Design
30 SNPs were identified by sequencing the promoter and exons of p21 in ten individuals over 90 years old. Then the frequency of 41 p21 SNPs between 184 centenarians and 184 younger subjects in the Italian population were compared.
Conclusions
Rare alleles of two exon-derived SNPs, rs1801270 and rs1059234, were significantly under-represented among the centenarians; no significant differences were found for 39 non-exonic SNPs

Variants (31)

No gene

1.
Identifier
rs6457931
Cytogenetic Location
2.
Identifier
rs1321312
Cytogenetic Location
3.
Identifier
rs4331968
Cytogenetic Location
4.
Identifier
rs9470367
Cytogenetic Location
5.
Identifier
rs6920453
Cytogenetic Location
6.
Identifier
rs9462209
Cytogenetic Location
7.
Identifier
rs4713999
Cytogenetic Location
8.
Identifier
rs1321309
Cytogenetic Location
9.
Identifier
rs6457938
Cytogenetic Location
10.
Identifier
rs6457940
Cytogenetic Location

CDKN1A

1.
Identifier
rs4714003
Cytogenetic Location
6p21.2
UCSC Genome Browser
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2.
Identifier
rs10947623
Cytogenetic Location
6p21.2
UCSC Genome Browser
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3.
Identifier
rs12192827
Cytogenetic Location
6p21.2
UCSC Genome Browser
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4.
Identifier
rs12192877
Cytogenetic Location
6p21.2
UCSC Genome Browser
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5.
Identifier
rs4135234
Cytogenetic Location
6p21.2
UCSC Genome Browser
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6.
Identifier
rs3829963
Cytogenetic Location
6p21.2
UCSC Genome Browser
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7.
Identifier
rs3829965
Cytogenetic Location
6p21.2
UCSC Genome Browser
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8.
Identifier
rs4135237
Cytogenetic Location
6p21.2
UCSC Genome Browser
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9.
Identifier
rs3829966
Cytogenetic Location
6p21.2
UCSC Genome Browser
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10.
Identifier
rs3829967
Cytogenetic Location
6p21.2
UCSC Genome Browser
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11.
Identifier
rs733590
Cytogenetic Location
6p21.2
UCSC Genome Browser
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12.
Identifier
rs762623
Cytogenetic Location
6p21.2
UCSC Genome Browser
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13.
Identifier
rs2395655
Cytogenetic Location
6p21.2
UCSC Genome Browser
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14.
Identifier
rs730506
Cytogenetic Location
6p21.2
UCSC Genome Browser
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15.
Identifier
rs4151702
Cytogenetic Location
6p21.2
UCSC Genome Browser
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16.
Identifier
rs3176343
Cytogenetic Location
6p21.2
UCSC Genome Browser
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17.
Identifier
rs3176344
Cytogenetic Location
6p21.2
UCSC Genome Browser
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18.
Identifier
rs3176349
Cytogenetic Location
6p21.2
UCSC Genome Browser
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19.
Identifier
rs876581
Cytogenetic Location
6p21.2
UCSC Genome Browser
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Gene details

HGNC symbol
CDKN1A
Aliases
P21; CIP1; SDI1; WAF1; CAP20; CDKN1; MDA-6; p21CIP1 
Common name
cyclin dependent kinase inhibitor 1A 
Description
This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
Other longevity studies of this gene
20
OMIM
116899
Ensembl
ENSG00000124762
UniProt/Swiss-Prot
A0A024RCX5_HUMAN
Entrez Gene
1026
UniGene
370771
HapMap
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Homologs in model organisms

Danio rerio
cdkn1a
Mus musculus
Cdkn1a
Rattus norvegicus
Cdkn1a

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Cdkn1a
GenAge human genes
  • This gene is present as CDKN1A
CellAge
  • This gene is present as CDKN1A

PANDAR

1.
Identifier
rs4711459
Cytogenetic Location
6p21.2
UCSC Genome Browser
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Gene details

HGNC symbol
PANDAR
Aliases
PANDA 
Common name
promoter of CDKN1A antisense DNA damage activated RNA 
Description
OMIM
617179
Ensembl
ENSG00000281450
UniProt/Swiss-Prot
Entrez Gene
101154753
UniGene
741557
HapMap
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Homologs in model organisms

No homologs found

RAB44

1.
Identifier
rs2145047
Cytogenetic Location
6p21.2
UCSC Genome Browser
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Gene details

HGNC symbol
RAB44
Aliases
RASD3; RASL13; dJ431A14.3 
Common name
RAB44, member RAS oncogene family 
Description
OMIM
Ensembl
ENSG00000255587
UniProt/Swiss-Prot
A0A087WXI0_HUMAN
Entrez Gene
401258
UniGene
485258
HapMap
View on HapMap

Homologs in model organisms

No homologs found

References

Gravina et al. (2009)

Other variants which are also part of this study