LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- American (Caucasian)
- Study Design
- 291 SNPs in 30 genes in the insulin/IGF1 signaling pathway were evaluated in 293 long-lived cases and 603 average-lifespan controls (all female), then replicated the candidate genes in two independent cohorts: 279 cases (47% male vs 797 controls(52.6% male) and 383 cases (25.2% male) vs 363 controls (42.7 % male)
- Conclusions
- Apart SNPs in FOXO3A and AKT1, no associations with longevity were significant after correcting for multiple testing, though SNPs in 7 other genes (FOXO1A, GHR, GHRHR, IGF1R, IGFBP3, IGFBP4, and PTEN) had suggestive significance
Variants (16)
- Gene summary:
- No gene (2)
- GHR (7)
- GHRHR (1)
- IGF1R (1)
- IGFBP3 (1)
- IGFBP4 (1)
- IGFBP5 (2)
- LOC107985064 (1)
No gene
GHR
Gene details
- HGNC symbol
- GHR
- Aliases
- GHBP; GHIP
- Common name
- growth hormone receptor
- Description
- This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
- Other longevity studies of this gene
- 8
- OMIM
- 600946
- Ensembl
- ENSG00000112964
- UniProt/Swiss-Prot
- A0A087X0H5_HUMAN
- Entrez Gene
- 2690
- UniGene
- 125180
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
GHRHR
Gene details
- HGNC symbol
- GHRHR
- Aliases
- GRFR; GHRFR; IGHD1B
- Common name
- growth hormone releasing hormone receptor
- Description
- This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
- Other longevity studies of this gene
- 2
- OMIM
- 139191
- Ensembl
- ENSG00000106128
- UniProt/Swiss-Prot
- A0A090N8Y6_HUMAN
- Entrez Gene
- 2692
- UniGene
- 767
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IGF1R
Gene details
- HGNC symbol
- IGF1R
- Aliases
- IGFR; CD221; IGFIR; JTK13
- Common name
- insulin like growth factor 1 receptor
- Description
- This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
- Other longevity studies of this gene
- 10
- OMIM
- 147370
- Ensembl
- ENSG00000140443
- UniProt/Swiss-Prot
- C9J5X1_HUMAN
- Entrez Gene
- 3480
- UniGene
- 643120
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- daf-2
- Danio rerio
- igf1ra
- Danio rerio
- igf1rb
- Drosophila melanogaster
- InR
- Mus musculus
- Igf1r
- Rattus norvegicus
- Igf1r
In other databases
- GenAge model organism genes
- GenAge human genes
- This gene is present as IGF1R
- GenDR gene manipulations
IGFBP3
Gene details
- HGNC symbol
- IGFBP3
- Aliases
- IBP3; BP-53
- Common name
- insulin like growth factor binding protein 3
- Description
- This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 2
- OMIM
- 146732
- Ensembl
- ENSG00000146674
- UniProt/Swiss-Prot
- B3KPF0_HUMAN
- Entrez Gene
- 3486
- UniGene
- 450230
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IGFBP4
Gene details
- HGNC symbol
- IGFBP4
- Aliases
- BP-4; IBP4; IGFBP-4; HT29-IGFBP
- Common name
- insulin like growth factor binding protein 4
- Description
- This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
- OMIM
- 146733
- Ensembl
- ENSG00000141753
- UniProt/Swiss-Prot
- A0A024R1U8_HUMAN
- Entrez Gene
- 3487
- UniGene
- 462998
- HapMap
- View on HapMap
Homologs in model organisms
IGFBP5
Gene details
- HGNC symbol
- IGFBP5
- Aliases
- IBP5
- Common name
- insulin like growth factor binding protein 5
- Description
- Other longevity studies of this gene
- 1
- OMIM
- 146734
- Ensembl
- ENSG00000115461
- UniProt/Swiss-Prot
- A0A024R433_HUMAN
- Entrez Gene
- 3488
- UniGene
- 607212
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
LOC107985064
Gene details
- HGNC symbol
- LOC107985064
- Aliases
- Common name
- uncharacterized LOC107985064
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 107985064
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found