VEGFC (vascular endothelial growth factor C)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7424
Gene name Gene Name - the full gene name approved by the HGNC.
Vascular endothelial growth factor C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VEGFC
Synonyms (NCBI Gene) Gene synonyms aliases
Flt4-L, LMPH1D, LMPHM4, VRP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q34.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs587777566 ->AA Pathogenic Frameshift variant, coding sequence variant
rs587777567 G>A Pathogenic Stop gained, coding sequence variant
rs1057524647 T>A Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(102)
miRTarBase ID miRNA Experiments Reference
MIRT021989 hsa-miR-128-3p Microarray 17612493
MIRT054253 hsa-miR-27b-3p ELISA, Immunofluorescence, Microarray, Luciferase reporter assay, QRTPCR, Western blot 23593282
MIRT021989 hsa-miR-128-3p SK-MES-1 25001183
MIRT021989 hsa-miR-128-3p SK-MES-1 25001183
MIRT631912 hsa-miR-508-5p HITS-CLIP 23824327
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
RUNX2 Activation 22641097
SIX1 Activation 22466647
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(52)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001666 Process Response to hypoxia IBA
GO:0002040 Process Sprouting angiogenesis IBA
GO:0002052 Process Positive regulation of neuroblast proliferation IEA
GO:0005515 Function Protein binding IPI 20145116, 21130043, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
601528 12682 ENSG00000150630
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID P49767
Protein name Vascular endothelial growth factor C (VEGF-C) (Flt4 ligand) (Flt4-L) (Vascular endothelial growth factor-related protein) (VRP)
Protein function Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems
PDB 2X1W , 2X1X , 4BSK , 6TJT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00341 PDGF 131 → 211 PDGF/VEGF domain Domain
PF03128 CXCXC 283 → 295 CXCXC repeat Repeat
PF03128 CXCXC 308 → 319 CXCXC repeat Repeat
PF03128 CXCXC 331 → 343 CXCXC repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in the spleen (PubMed:8700872, PubMed:9247316). Expressed in the lymph node, thymus, appendix and bone marrow (PubMed:9247316). Expressed in the heart, placenta, skeletal muscle, ovary and small intestine (PubMed:8617204, Pub
Sequence 
MHLLGFFSVACSLLAAALLPGPREAPAAAAAFESGLDLSDAEPDAGEATAYASKDLEEQL
RSVSSVDELMTVLYPEYWKMYKCQLRKGGWQHNREQANLNSRTEETIKFAAAHYNTEILK
SIDNEWRKTQCMPREVCIDVGKEFGVATNTFFKPPCVSVYRCGGCCNSEGLQCMNTSTSY
LSKTLFEITVPLSQGPKPVTISFANHTSCRCMSKLDVYRQVHSIIRRSLPATLPQCQAAN
KTCPTNYMWNNHICRCLAQEDFMFSSDAGDDSTDGFHDICGPNKELDEETCQCVCRAGLR
PASCGPHKELDRNSCQCVCKNKLFPSQCGANREFDENTCQCVCKRTCPRNQPLNPGKCAC
ECTESPQKCLLKGKKFHHQTCSCYRRPCTNRQKACEPGFSYSEEVCRCVPSYWKRPQMS
Sequence length 419
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lymphatic Malformation lymphatic malformation 4 rs587777566, rs587777567 N/A
Show/Hide Unknown Diseases (1)
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
Show/Hide Text Mining Associations (158)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 12518370, 15867486
Adenocarcinoma of Lung Associate 16116610, 27461624, 32019546, 32154654, 36254009, 38240936, 39766765
Adenolymphoma Associate 29097817
Adrenal Insufficiency Associate 23878260
Anemia Sickle Cell Stimulate 37012663
Arthritis Rheumatoid Associate 31692815
Ataxia Telangiectasia Associate 26189429
Atherosclerosis Associate 14990597
Atypical Squamous Cells of the Cervix Associate 30043637
Behcet Syndrome Stimulate 34918882