VEGFC (vascular endothelial growth factor C)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 7424
Gene name Vascular endothelial growth factor C
Gene symbol VEGFC
Synonyms (NCBI Gene)
Flt4-LLMPH1DLMPHM4VRP
Chromosome 4
Chromosome location 4q34.3
Summary 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.
3
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.
102
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 ELISAImmunofluorescenceMicroarrayLuciferase reporter assayQRTPCRWestern 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 Transcription factors information provided by TRRUST V2 database.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
601528 12682 ENSG00000150630
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
17
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphatic malformation 4 Pathogenic rs587777566, rs587777567 RCV000128848
RCV000128849
Squamous cell carcinoma of the head and neck Pathogenic rs1057524647 RCV005898141
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs564667848 RCV005930742
Lymphedema Uncertain significance rs200933230 RCV005626887
Sarcoma Conflicting classifications of pathogenicity rs200182587 RCV005930066
VEGFC-related disorder Uncertain significance; Likely benign rs2477059409, rs375274193, rs374947493, rs754628535, rs372307330, rs375440489, rs370007298 RCV003391262
RCV003907166
RCV003921680
RCV003914295
RCV003961364
RCV003937000
RCV003924183
Show/Hide Text Mining Associations (158)
Associations from Text MiningDisease 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