Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7422
Gene name Gene Name - the full gene name approved by the HGNC.
Vascular endothelial growth factor A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VEGFA
Synonyms (NCBI Gene) Gene synonyms aliases
L-VEGF, MVCD1, VEGF, VPF
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
192240 12680 ENSG00000112715
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Atherosclerosis Atherosclerosis, susceptibility to N/A N/A ClinVar
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Associations from Text Mining Disease 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