Gene Gene information from NCBI Gene database.
Entrez ID 7422
Gene name Vascular endothelial growth factor A
Gene symbol VEGFA
Synonyms (NCBI Gene)
L-VEGFMVCD1VEGFVPF
Chromosome 6
Chromosome location 6p21.1
Summary 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 bot
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs2010963 C>G,T Risk-factor Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs756155710 GACA>-,GACAGACA,GACAGACAGACA Likely-pathogenic 5 prime UTR variant, coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1394
miRTarBase ID miRNA Experiments Reference
MIRT000722 hsa-miR-302d-3p Review 19574400
MIRT000721 hsa-miR-373-3p Review 19574400
MIRT003428 hsa-miR-126-3p Luciferase reporter assay 19223090
MIRT003428 hsa-miR-126-3p Luciferase reporter assay 19223090
MIRT004518 hsa-miR-205-5p Luciferase reporter assay 19238171
Transcription factors Transcription factors information provided by TRRUST V2 database.
81
Transcription factor Regulation Reference
AR Activation 16007189
AR Unknown 23369005
ARNT Unknown 16774940;19020709
ATF4 Activation 15788408;18829529
ATF4 Unknown 18451308;22915762;23908598
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
241
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18093989
GO:0001525 Process Angiogenesis IDA 11427521, 21771332
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IEA
GO:0001541 Process Ovarian follicle development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
192240 12680 ENSG00000112715
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15692
Protein name Vascular endothelial growth factor A, long form (L-VEGF) (Vascular permeability factor) (VPF) [Cleaved into: N-VEGF; VEGFA]
Protein function [N-VEGF]: Participates in the induction of key genes involved in the response to hypoxia and in the induction of angiogenesis such as HIF1A (PubMed:35455969). Involved in protecting cells from hypoxia-mediated cell death (By similarity). {ECO:00
PDB 1BJ1 , 1CZ8 , 1FLT , 1KAT , 1KMX , 1MJV , 1MKG , 1MKK , 1QTY , 1TZH , 1TZI , 1VGH , 1VPF , 1VPP , 2FJG , 2FJH , 2QR0 , 2VGH , 2VPF , 3BDY , 3P9W , 3QTK , 3S1B , 3S1K , 3V2A , 4DEQ , 4GLN , 4GLS , 4KZN , 4QAF , 4WPB , 4ZFF , 5DN2 , 5FV1 , 5FV2 , 5HHC , 5HHD , 5O4E , 5T89 , 6BFT , 6D3O , 6T9D , 6V7K , 6Z13 , 6Z3F , 6ZBR , 6ZCD , 6ZFL , 7KEZ , 7KF0 , 7KF1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00341 PDGF 52 130 PDGF/VEGF domain Domain
PF14554 VEGF_C 180 232 VEGF heparin-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Higher expression in pituitary tumors than the pituitary gland. {ECO:0000269|PubMed:22009797}.; TISSUE SPECIFICITY: [Isoform VEGF189]: Widely expressed.; TISSUE SPECIFICITY: [Isoform VEGF165]: Widely expressed.; TISSUE SPECIFICITY: [Is
Sequence
MNFLLSWVHWSLALLLYLHHAKWSQAAPMAEGGGQNHHEVVKFMDVYQRSYCHPIETLVD
IFQEYPDEIEYIFKPSCVPLMRCGGCCNDEGLECVPTEESNITMQIMRIKPHQGQHIGEM
SFLQHNKCEC
RPKKDRARQEKKSVRGKGKGQKRKRKKSRYKSWSVYVGARCCLMPWSLPG
PHPCGPCSERRKHLFVQDPQTCKCSCKNTDSRCKARQLELNERTCRCDKPRR
Sequence length 232
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
HIF-1 signaling pathway
PI3K-Akt signaling pathway
VEGF signaling pathway
Focal adhesion
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Human cytomegalovirus infection
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Renal cell carcinoma
Pancreatic cancer
Bladder cancer
Rheumatoid arthritis
Fluid shear stress and atherosclerosis
  Platelet degranulation
Regulation of gene expression by Hypoxia-inducible Factor
Signaling by VEGF
VEGF ligand-receptor interactions
VEGF binds to VEGFR leading to receptor dimerization
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation
Interleukin-4 and Interleukin-13 signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
VEGFA-related disorder Likely pathogenic rs2533253817 RCV003397759
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atherosclerosis, susceptibility to Benign rs699947 RCV000013008
Cholangiocarcinoma other rs3025039 RCV003312792
Microvascular complications of diabetes, susceptibility to, 1 Benign rs2010963 RCV000013007
Thyroid cancer, nonmedullary, 1 Likely benign rs777846438 RCV005907373
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3C syndrome Associate 19041064
Abdominal Injuries Associate 12853702
Ablepharon macrostomia syndrome Associate 23553563
Abortion Habitual Associate 15820807, 21458805, 24260517, 25826496, 30680517, 31906232, 36745296
Abortion Habitual Inhibit 33390589
Abortion Habitual Stimulate 36302396
Abortion Spontaneous Associate 15820807, 21458805, 22867902, 33405003, 38195505
Abortion Spontaneous Stimulate 24098721, 36096448
Abortion Spontaneous Inhibit 37968664
Abscess Stimulate 34539639