LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
- Conclusions
- No SNP reached significance in the GWAS but 62 SNPs, many in genes, had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, 61 were not significant.
Variants (57)
- Gene summary:
- No gene (31)
- ANKUB1 (1)
- ATP5J2-PTCD1 (1)
- CASC21 (2)
- CCDC192 (1)
- CCDC50 (3)
- DOK6 (1)
- GRWD1 (1)
- HECW1 (1)
- KCNMA1 (1)
- LOC101927245 (1)
- LRP1B (1)
- MMP20 (1)
- MRPL37 (1)
- NRXN3 (1)
- OR6N1 (2)
- PEBP4 (1)
- RBPMS (1)
- SLC39A10 (1)
- SOX5 (1)
- SYK (2)
- TTC41P (1)
No gene
ANKUB1
Gene details
- HGNC symbol
- ANKUB1
- Aliases
- C3orf16
- Common name
- ankyrin repeat and ubiquitin domain containing 1
- Description
- OMIM
- Ensembl
- ENSG00000206199
- UniProt/Swiss-Prot
- ANKUB_HUMAN
- Entrez Gene
- 389161
- UniGene
- 665988
- HapMap
- View on HapMap
Homologs in model organisms
ATP5J2-PTCD1
Gene details
- HGNC symbol
- ATP5J2-PTCD1
- Aliases
- Common name
- ATP5J2-PTCD1 readthrough
- Description
- This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
- OMIM
- Ensembl
- ENSG00000248919
- UniProt/Swiss-Prot
- B4DJ38_HUMAN
- Entrez Gene
- 100526740
- UniGene
- 632313
- HapMap
- View on HapMap
Homologs in model organisms
CASC21
Gene details
- HGNC symbol
- CASC21
- Aliases
- CARLo-2; LINC01244
- Common name
- cancer susceptibility 21 (non-protein coding)
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 103021164
- UniGene
- 571531
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CCDC192
Gene details
- HGNC symbol
- CCDC192
- Aliases
- LINC01183
- Common name
- coiled-coil domain containing 192
- Description
- OMIM
- Ensembl
- ENSG00000230561
- UniProt/Swiss-Prot
- CC192_HUMAN
- Entrez Gene
- 728586
- UniGene
- 582532
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- 1700011I03Rik
CCDC50
Gene details
- HGNC symbol
- CCDC50
- Aliases
- YMER; C3orf6; DFNA44
- Common name
- coiled-coil domain containing 50
- Description
- This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 611051
- Ensembl
- ENSG00000152492
- UniProt/Swiss-Prot
- CCD50_HUMAN
- Entrez Gene
- 152137
- UniGene
- 478682
- HapMap
- View on HapMap
Homologs in model organisms
DOK6
Gene details
- HGNC symbol
- DOK6
- Aliases
- DOK5L; HsT3226
- Common name
- docking protein 6
- Description
- DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]
- OMIM
- 611402
- Ensembl
- ENSG00000206052
- UniProt/Swiss-Prot
- DOK6_HUMAN
- Entrez Gene
- 220164
- UniGene
- 278285
- HapMap
- View on HapMap
Homologs in model organisms
GRWD1
Gene details
- HGNC symbol
- GRWD1
- Aliases
- CDW4; GRWD; RRB1; WDR28
- Common name
- glutamate rich WD repeat containing 1
- Description
- This gene encodes a glutamate-rich protein that contains five WD-repeat motifs. The encoded protein may play a critical role in ribosome biogenesis and may also play a role in histone methylation through interactions with CUL4-DDB1 ubiquitin E3 ligase. [provided by RefSeq, Feb 2012]
- OMIM
- 610597
- Ensembl
- ENSG00000105447
- UniProt/Swiss-Prot
- GRWD1_HUMAN
- Entrez Gene
- 83743
- UniGene
- 400625
- HapMap
- View on HapMap
Homologs in model organisms
HECW1
Gene details
- HGNC symbol
- HECW1
- Aliases
- NEDL1
- Common name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
- Description
- OMIM
- 610384
- Ensembl
- ENSG00000002746
- UniProt/Swiss-Prot
- HECW1_HUMAN
- Entrez Gene
- 23072
- UniGene
- 164453
- HapMap
- View on HapMap
Homologs in model organisms
KCNMA1
Gene details
- HGNC symbol
- KCNMA1
- Aliases
- SLO; BKTM; SLO1; hSlo; MaxiK; SAKCA; mSLO1; KCa1.1; SLO-ALPHA; bA205K10.1
- Common name
- potassium calcium-activated channel subfamily M alpha 1
- Description
- MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
- OMIM
- 600150
- Ensembl
- ENSG00000156113
- UniProt/Swiss-Prot
- A0A087WZL8_HUMAN
- Entrez Gene
- 3778
- UniGene
- 144795
- HapMap
- View on HapMap
Homologs in model organisms
LOC101927245
Gene details
- HGNC symbol
- LOC101927245
- Aliases
- Common name
- vegetative cell wall protein gp1-like
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 101927245
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
LRP1B
Gene details
- HGNC symbol
- LRP1B
- Aliases
- LRP-1B; LRPDIT; LRP-DIT
- Common name
- LDL receptor related protein 1B
- Description
- This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 608766
- Ensembl
- ENSG00000168702
- UniProt/Swiss-Prot
- LRP1B_HUMAN
- Entrez Gene
- 53353
- UniGene
- 656461
- HapMap
- View on HapMap
Homologs in model organisms
MMP20
Gene details
- HGNC symbol
- MMP20
- Aliases
- AI2A2; MMP-20
- Common name
- matrix metallopeptidase 20
- Description
- Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011]
- OMIM
- 604629
- Ensembl
- ENSG00000137674
- UniProt/Swiss-Prot
- MMP20_HUMAN
- Entrez Gene
- 9313
- UniGene
- 591946
- HapMap
- View on HapMap
Homologs in model organisms
MRPL37
Gene details
- HGNC symbol
- MRPL37
- Aliases
- L2mt; L37mt; MRPL2; RPML2; MRP-L2; MRP-L37
- Common name
- mitochondrial ribosomal protein L37
- Description
- Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
- OMIM
- 611843
- Ensembl
- ENSG00000116221
- UniProt/Swiss-Prot
- RM37_HUMAN
- Entrez Gene
- 51253
- UniGene
- 584908
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge microarray genes
- This gene is present as MRPL37
NRXN3
Gene details
- HGNC symbol
- NRXN3
- Aliases
- C14orf60
- Common name
- neurexin 3
- Description
- This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]
- OMIM
- 600567
- Ensembl
- ENSG00000021645
- UniProt/Swiss-Prot
- A0A0U1RRJ0_HUMAN
- Entrez Gene
- 9369
- UniGene
- 368307
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- nrx-1
- Danio rerio
- nrxn3a
- Danio rerio
- nrxn3b
- Drosophila melanogaster
- Nrx-1
- Mus musculus
- Nrxn3
In other databases
- GenAge model organism genes
- A homolog of this gene for Caenorhabditis elegans is present as nrx-1
OR6N1
Gene details
- HGNC symbol
- OR6N1
- Aliases
- OR1-22
- Common name
- olfactory receptor family 6 subfamily N member 1
- Description
- Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000197403
- UniProt/Swiss-Prot
- OR6N1_HUMAN
- Entrez Gene
- 128372
- UniGene
- 553592
- HapMap
- View on HapMap
Homologs in model organisms
PEBP4
Gene details
- HGNC symbol
- PEBP4
- Aliases
- CORK1; CORK-1; PEBP-4; hPEBP4; PRO4408; GWTM1933; HEL-S-300
- Common name
- phosphatidylethanolamine binding protein 4
- Description
- The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
- OMIM
- 612473
- Ensembl
- ENSG00000134020
- UniProt/Swiss-Prot
- PEBP4_HUMAN
- Entrez Gene
- 157310
- UniGene
- 491242
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- F40A3.3
- Caenorhabditis elegans
- Y69E1A.5
- Drosophila melanogaster
- a5
- Drosophila melanogaster
- CG30060
- Drosophila melanogaster
- CG7054
- Drosophila melanogaster
- Pebp1
- Drosophila melanogaster
- CG6180
- Drosophila melanogaster
- CG17919
- Drosophila melanogaster
- CG17917
- Drosophila melanogaster
- CG10298
- Mus musculus
- Pebp4
- Saccharomyces cerevisiae
- 850876
- Saccharomyces cerevisiae
- TFS1
RBPMS
Gene details
- HGNC symbol
- RBPMS
- Aliases
- HERMES
- Common name
- RNA binding protein with multiple splicing
- Description
- This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
- OMIM
- 601558
- Ensembl
- ENSG00000157110
- UniProt/Swiss-Prot
- B4E3T4_HUMAN
- Entrez Gene
- 11030
- UniGene
- 334587
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- mec-8
- Danio rerio
- RBPMS
- Drosophila melanogaster
- cpo
- Mus musculus
- Rbpms
- Rattus norvegicus
- Rbpms
In other databases
- GenAge model organism genes
- A homolog of this gene for Caenorhabditis elegans is present as mec-8
SLC39A10
Gene details
- HGNC symbol
- SLC39A10
- Aliases
- LZT-Hs2
- Common name
- solute carrier family 39 member 10
- Description
- Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
- OMIM
- 608733
- Ensembl
- ENSG00000196950
- UniProt/Swiss-Prot
- A0A024R3W5_HUMAN
- Entrez Gene
- 57181
- UniGene
- 650158
- HapMap
- View on HapMap
Homologs in model organisms
SOX5
Gene details
- HGNC symbol
- SOX5
- Aliases
- L-SOX5; LAMSHF; L-SOX5B; L-SOX5F
- Common name
- SRY-box 5
- Description
- This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 604975
- Ensembl
- ENSG00000134532
- UniProt/Swiss-Prot
- A0A024RB06_HUMAN
- Entrez Gene
- 6660
- UniGene
- 434948
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as SOX5
SYK
Gene details
- HGNC symbol
- SYK
- Aliases
- p72-Syk
- Common name
- spleen associated tyrosine kinase
- Description
- This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
- Other longevity studies of this gene
- 1
- OMIM
- 600085
- Ensembl
- ENSG00000165025
- UniProt/Swiss-Prot
- A0A024R244_HUMAN
- Entrez Gene
- 6850
- UniGene
- 371720
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as SYK
TTC41P
Gene details
- HGNC symbol
- TTC41P
- Aliases
- GNN; GNNP
- Common name
- tetratricopeptide repeat domain 41, pseudogene
- Description
- OMIM
- Ensembl
- ENSG00000214198
- UniProt/Swiss-Prot
- Entrez Gene
- 253724
- UniGene
- 506549
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found