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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
121
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
VEGFA-related disorder Likely pathogenic rs2533253817 RCV003397759
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ablepharon macrostomia syndrome Ablepharon macrostomia syndrome Pubtator 23553563 Associate
★☆☆☆☆
Found in Text Mining only
ABLEPHARON-MACROSTOMIA SYNDROME Ablepharon macrostomia syndrome BEFREE 10893358, 21242666, 31189189
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 17721409, 21800959, 25692621, 25738867, 27819721, 29309662
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 24092547
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 29198900, 30954486
★☆☆☆☆
Found in Text Mining only
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 15732116
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17264508, 29551453, 30111293
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 14712314
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 20943766, 22808199
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 17031469, 21209384, 23503608, 24966925, 30378769
★☆☆☆☆
Found in Text Mining only