LongevityMap Gene
Gene details
- HGNC symbol
- VEGFA
- Aliases
- VPF; VEGF; MVCD1
- Common name
- vascular endothelial growth factor A
- Description
- This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. [provided by RefSeq, Nov 2015]
- Cytogenetic Location
- 6p21.1
- UCSC Genome Browser
- View 6p21.1 on the UCSC genome browser
- OMIM
- 192240
- Ensembl
- ENSG00000112715
- UniProt/Swiss-Prot
- A0A024RD33_HUMAN
- Entrez Gene
- 7422
- UniGene
- 73793
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Italian (Northern)
- Study Design
- Four polymorphisms within the VEGF gene promoter region in 490 unrelated healthy subjects (40.2% males, 25- 99 years) were analyzed possible association with longevity
- Conclusions
- Significant changes of allele, genotype (−2578/AA versus −2578/CC: OR = 2.08, p = 0.007; −1190/AA versus −1190/GG: OR = 2.01, p = 0.011) and haplotype (AAGG: 10.4% versus 14.9%, p = 0.03) frequency distributions were observed between young/elderly (25–84 years old) and long-lived (85–99 years old) subjects. These results suggest that VEGF gene variability can influence lifespan.
- Indentifier
- VEGFA
- Reference