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
- No significant results were observed for genes previously associated with longevity: TH, IGF2, INS and HRAS1
Variants (4)
HRAS
Gene details
- HGNC symbol
- HRAS
- Aliases
- CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1
- Common name
- HRas proto-oncogene, GTPase
- Description
- This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 190020
- Ensembl
- ENSG00000174775
- UniProt/Swiss-Prot
- RASH_HUMAN
- Entrez Gene
- 3265
- UniGene
- 37003
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- let-60
- Danio rerio
- hrasb
- Danio rerio
- hrasa
- Drosophila melanogaster
- Ras85D
- Mus musculus
- Hras
- Rattus norvegicus
- Hras
- Rattus norvegicus
- Hras
- Saccharomyces cerevisiae
- RAS2
- Saccharomyces cerevisiae
- RAS1
In other databases
IGF2
Gene details
- HGNC symbol
- IGF2
- Aliases
- GRDF; IGF-II; PP9974; C11orf43
- Common name
- insulin like growth factor 2
- Description
- This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
- Other longevity studies of this gene
- 6
- OMIM
- 147470
- Ensembl
- ENSG00000167244
- UniProt/Swiss-Prot
- E3UN46_HUMAN
- Entrez Gene
- 3481
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as IGF2
INS
Gene details
- HGNC symbol
- INS
- Aliases
- IDDM; ILPR; IRDN; IDDM1; IDDM2; MODY10
- Common name
- insulin
- Description
- After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 176730
- Ensembl
- ENSG00000254647
- UniProt/Swiss-Prot
- I3WAC9_HUMAN
- Entrez Gene
- 3630
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- ins
- Danio rerio
- insb
- Mus musculus
- Ins2
- Mus musculus
- Ins1
- Rattus norvegicus
- Ins1
- Rattus norvegicus
- Ins2
In other databases
- GenAge human genes
- This gene is present as INS
TH
Gene details
- HGNC symbol
- TH
- Aliases
- TYH; DYT14; DYT5b
- Common name
- tyrosine hydroxylase
- Description
- The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 4
- OMIM
- 191290
- Ensembl
- ENSG00000180176
- UniProt/Swiss-Prot
- P78428_HUMAN
- Entrez Gene
- 7054
- UniGene
- 435609
- HapMap
- View on HapMap