LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Chinese
Study Design
A 10-year follow-up study of the Chinese longitudinal healthy longevity survey was performed consisting of 963 long-lived and 1028 geography-matched young individuals. Sixteen SNPs from ADRB1, ADRB2, ADCY5, ADCY6, and MAPK1 were selected and genotyped.
Conclusions
None of the tested single nucleotide polymorphisms, excepting rs1042718 (C/A) and rs1042719 (G/C), showed a significant association with the longevity phenotype

Variants (14)

No gene

1.
Identifier
rs740746
Cytogenetic Location

ADCY5

1.
Identifier
rs2877709
Cytogenetic Location
3q21.1
UCSC Genome Browser
View 3q21.1 on the UCSC genome browser
2.
Identifier
rs9861425
Cytogenetic Location
3q21.1
UCSC Genome Browser
View 3q21.1 on the UCSC genome browser
3.
Identifier
rs9844212
Cytogenetic Location
3q21.1
UCSC Genome Browser
View 3q21.1 on the UCSC genome browser
4.
Identifier
rs4677882
Cytogenetic Location
3q21.1
UCSC Genome Browser
View 3q21.1 on the UCSC genome browser
5.
Identifier
rs4482616
Cytogenetic Location
3q21.1
UCSC Genome Browser
View 3q21.1 on the UCSC genome browser

Gene details

HGNC symbol
ADCY5
Aliases
AC5; FDFM 
Common name
adenylate cyclase 5 
Description
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Other longevity studies of this gene
4
OMIM
600293
Ensembl
ENSG00000173175
UniProt/Swiss-Prot
ADCY5_HUMAN
Entrez Gene
111
UniGene
593292
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
adcy5
Mus musculus
Adcy5
Rattus norvegicus
Adcy5

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Adcy5
GenAge human genes
  • This gene is present as ADCY5
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Adcy5

ADCY6

1.
Identifier
rs2291727
Cytogenetic Location
12q13.12
UCSC Genome Browser
View 12q13.12 on the UCSC genome browser

Gene details

HGNC symbol
ADCY6
Aliases
AC6; LCCS8 
Common name
adenylate cyclase 6 
Description
This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
OMIM
600294
Ensembl
ENSG00000174233
UniProt/Swiss-Prot
ADCY6_HUMAN
Entrez Gene
112
UniGene
525401
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
adcy6b
Drosophila melanogaster
CG32158
Mus musculus
Adcy6
Rattus norvegicus
Adcy6

ADRB2

1.
Identifier
rs2053044
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser
2.
Identifier
rs1042713
In Other Studies (IDs)
321
Cytogenetic Location
5q32
UCSC Genome Browser
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3.
Identifier
rs1042714
In Other Studies (IDs)
3473
Cytogenetic Location
5q32
UCSC Genome Browser
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Gene details

HGNC symbol
ADRB2
Aliases
BAR; B2AR; ADRBR; ADRB2R; BETA2AR 
Common name
adrenoceptor beta 2 
Description
This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
6
OMIM
109690
Ensembl
ENSG00000169252
UniProt/Swiss-Prot
ADRB2_HUMAN
Entrez Gene
154
UniGene
2551
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
adrb2a
Mus musculus
Adrb2
Rattus norvegicus
Adrb2

MAPK1

1.
Identifier
rs5749998
Cytogenetic Location
22q11.22
UCSC Genome Browser
View 22q11.22 on the UCSC genome browser
2.
Identifier
rs2266968
Cytogenetic Location
22q11.22
UCSC Genome Browser
View 22q11.22 on the UCSC genome browser
3.
Identifier
rs1892848
Cytogenetic Location
22q11.22
UCSC Genome Browser
View 22q11.22 on the UCSC genome browser
4.
Identifier
rs5999521
Cytogenetic Location
22q11.22
UCSC Genome Browser
View 22q11.22 on the UCSC genome browser

Gene details

HGNC symbol
MAPK1
Aliases
ERK; p38; p40; p41; ERK2; ERT1; ERK-2; MAPK2; PRKM1; PRKM2; P42MAPK; p41mapk; p42-MAPK 
Common name
mitogen-activated protein kinase 1 
Description
This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene
3
OMIM
176948
Ensembl
ENSG00000100030
UniProt/Swiss-Prot
MK01_HUMAN
Entrez Gene
5594
UniGene
431850
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mapk1
Mus musculus
Mapk1
Rattus norvegicus
Mapk1

References

Zhao et al. (2012)

Other variants which are also part of this study