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 vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 recepto... See more...

Aliases for VEGFC Gene

Aliases for VEGFC Gene

  • Vascular Endothelial Growth Factor C 2 3 4 5
  • Vascular Endothelial Growth Factor-Related Protein 2 3 4
  • VRP 2 3 4
  • Flt4-L 3 4
  • VEGF-C 2 4
  • FLT4 Ligand DHM 3
  • Flt4 Ligand 4
  • LMPH1D 3
  • LMPHM4 3
  • VEGFC 5

External Ids for VEGFC Gene

Previous GeneCards Identifiers for VEGFC Gene

  • GC04M178492
  • GC04M178154
  • GC04M178300
  • GC04M177979
  • GC04M177841
  • GC04M177604
  • GC04M173355

Summaries for VEGFC Gene

Entrez Gene Summary for VEGFC 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 vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]

CIViC Summary for VEGFC Gene

GeneCards Summary for VEGFC Gene

VEGFC (Vascular Endothelial Growth Factor C) is a Protein Coding gene. Diseases associated with VEGFC include Lymphatic Malformation 4 and Hereditary Lymphedema Id. Among its related pathways are HIF1Alpha Pathway and Nanog in Mammalian ESC Pluripotency. Gene Ontology (GO) annotations related to this gene include growth factor activity and vascular endothelial growth factor receptor 3 binding. An important paralog of this gene is VEGFD.

UniProtKB/Swiss-Prot Summary for VEGFC Gene

  • 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 during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors.

Gene Wiki entry for VEGFC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VEGFC Gene

Genomics for VEGFC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VEGFC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J176788 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 263.5 +1.0 967 7.9 JUND ZSCAN16 CTCF ZNF217 CTBP1 RAD21 CUX1 SMC3 TBP SMARCE1 VEGFC HSALNG0038723-001 HSALNG0038723-002 HSALNG0038722 SPCS3
GH04J177004 Promoter/Enhancer 1.1 EPDnew FANTOM5 ENCODE dbSUPER 250.1 -215.3 -215308 6.7 JUND MAFK EP300 VEGFC HSALNG0038735 HSALNG0038732 ENSG00000287544 NEIL3
GH04J176800 Promoter 0.3 EPDnew 250.4 -7.2 -7175 0.1 VEGFC HSALNG0038723-002 HSALNG0038725 ENSG00000287544 NEIL3
GH04J176769 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.6 +22.8 22841 3 JUND MAFK BHLHE40 POLR2A NFE2L2 EP300 FOS CEBPB VEGFC HSALNG0038722 HSALNG0038723-001 SPCS3
GH04J176752 Enhancer 0.8 Ensembl ENCODE dbSUPER 6.2 +39.5 39482 2.5 JUND MAFK BHLHE40 POLR2A EP300 FOS VEGFC HSALNG0038722 piR-52079-163 SPCS3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VEGFC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VEGFC

Top Transcription factor binding sites by QIAGEN in the VEGFC gene promoter:
  • Cdc5
  • Evi-1
  • GATA-1
  • GATA-6
  • HOXA3
  • NF-1
  • NF-1/L
  • Nkx2-5
  • p53
  • Tal-1beta

Genomic Locations for VEGFC Gene

Latest Assembly
chr4:176,683,538-176,792,922
(GRCh38/hg38)
Size:
109,385 bases
Orientation:
Minus strand

Previous Assembly
chr4:177,604,689-177,714,076
(GRCh37/hg19 by Entrez Gene)
Size:
109,388 bases
Orientation:
Minus strand

chr4:177,604,689-177,713,881
(GRCh37/hg19 by Ensembl)
Size:
109,193 bases
Orientation:
Minus strand

Genomic View for VEGFC Gene

Genes around VEGFC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VEGFC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VEGFC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VEGFC Gene

Proteins for VEGFC Gene

  • Protein details for VEGFC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49767-VEGFC_HUMAN
    Recommended name:
    Vascular endothelial growth factor C
    Protein Accession:
    P49767
    Secondary Accessions:
    • B2R9Q8

    Protein attributes for VEGFC Gene

    Size:
    419 amino acids
    Molecular mass:
    46883 Da
    Quaternary structure:
    • Homodimer; non-covalent and antiparallel (PubMed:20145116). Interacts with FLT4/VEGFR3; the interaction is required for FLT4/VEGFR3 homodimarization and activation (PubMed:23878260).

    Three dimensional structures from OCA and Proteopedia for VEGFC Gene

neXtProt entry for VEGFC Gene

Post-translational modifications for VEGFC Gene

  • Undergoes a complex proteolytic maturation which generates a variety of processed secreted forms with increased activity toward VEGFR-3, but only the fully processed form could activate VEGFR-2. VEGF-C first form an antiparallel homodimer linked by disulfide bonds. Before secretion, a cleavage occurs between Arg-227 and Ser-228 producing a heterotetramer. The next extracellular step of the processing removes the N-terminal propeptide. Finally the mature VEGF-C is composed mostly of two VEGF homology domains (VHDs) bound by non-covalent interactions.
  • Glycosylation at Asn175, Asn205, and Asn240
  • Modification sites at PhosphoSitePlus

Other Protein References for VEGFC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for VEGFC

No data available for DME Specific Peptides for VEGFC Gene

Domains & Families for VEGFC Gene

Gene Families for VEGFC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Potential drug targets
  • Predicted secreted proteins
  • Transporters

Protein Domains for VEGFC Gene

InterPro:
Blocks:
  • Platelet-derived growth factor (PDGF)
  • Growth factor cystine knot superfamily signature
  • CXCXC repeat

Suggested Antigen Peptide Sequences for VEGFC Gene

GenScript: Design optimal peptide antigens:
  • VEGFC protein (Q6FH59_HUMAN)
  • Vascular endothelial growth factor-related protein (VEGFC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49767

UniProtKB/Swiss-Prot:

VEGFC_HUMAN :
  • Belongs to the PDGF/VEGF growth factor family.
Family:
  • Belongs to the PDGF/VEGF growth factor family.
genes like me logo Genes that share domains with VEGFC: view

Function for VEGFC Gene

Molecular function for VEGFC Gene

UniProtKB/Swiss-Prot 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 during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors.
GENATLAS Biochemistry:
vascular endothelial growth factor C,expressed in heart,placenta,ovary,small intestine,with two alternatively spliced forms,PDGF family,hypoxia-inducible,involved in vasculogenesis,downregulated by VHL

LifeMap Function Summary for VEGFC Gene

During embryonic development, VEGFC as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for VEGFC Gene

Gene Ontology (GO) - Molecular Function for VEGFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005172 vascular endothelial growth factor receptor binding IBA 21873635
GO:0005515 protein binding IPI 20145116
GO:0008083 growth factor activity IBA 21873635
GO:0042056 chemoattractant activity IDA 19275959
GO:0043185 vascular endothelial growth factor receptor 3 binding IPI 23878260
genes like me logo Genes that share ontologies with VEGFC: view
genes like me logo Genes that share phenotypes with VEGFC: view

Human Phenotype Ontology for VEGFC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for VEGFC Gene

MGI Knock Outs for VEGFC:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VEGFC

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for VEGFC Gene

Localization for VEGFC Gene

Subcellular locations from UniProtKB/Swiss-Prot for VEGFC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for VEGFC gene
Compartment Confidence
extracellular 5
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for VEGFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0031093 platelet alpha granule lumen TAS --
genes like me logo Genes that share ontologies with VEGFC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for VEGFC Gene

Pathways & Interactions for VEGFC Gene

PathCards logo

SuperPathways for VEGFC Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
3 TGF-Beta Pathway
.60
.60
.57
.51
.43
.40
4 ERK Signaling
.61
.61
.58
.51
.49
5 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
genes like me logo Genes that share pathways with VEGFC: view

Pathways by source for VEGFC Gene

1 GeneGo (Thomson Reuters) pathway for VEGFC Gene
  • Development VEGF-family signaling
62 Qiagen pathways for VEGFC Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
2 Cell Signaling Technology pathways for VEGFC Gene

SIGNOR curated interactions for VEGFC Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for VEGFC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001666 response to hypoxia IBA 21873635
GO:0001934 positive regulation of protein phosphorylation IBA 21873635
GO:0001938 positive regulation of endothelial cell proliferation IBA 21873635
GO:0002040 sprouting angiogenesis IBA 21873635
genes like me logo Genes that share ontologies with VEGFC: view

Drugs & Compounds for VEGFC Gene

(19) Drugs for VEGFC Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma antagonist, antibody, inhibitor VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2506
Lenalidomide Approved Pharma Anti-angiogenic., inhibitor Anti-angiogenic. 960
Avastin Pharma inhibitor 0
Endostatins Pharma inhibitor 100
Lenalidomide, Bevacizumab Pharma antagonist Anti-angiogenic., VEGF antagonist 0

(14) Additional Compounds for VEGFC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with VEGFC: view

Transcripts for VEGFC Gene

mRNA/cDNA for VEGFC Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VEGFC

Alternative Splicing Database (ASD) splice patterns (SP) for VEGFC Gene

No ASD Table

Relevant External Links for VEGFC Gene

GeneLoc Exon Structure for
VEGFC

Expression for VEGFC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VEGFC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VEGFC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (65.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for VEGFC Gene



Protein tissue co-expression partners for VEGFC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VEGFC

SOURCE GeneReport for Unigene cluster for VEGFC Gene:

Hs.435215

mRNA Expression by UniProt/SwissProt for VEGFC Gene:

P49767-VEGFC_HUMAN
Tissue specificity: Spleen, lymph node, thymus, appendix, bone marrow, heart, placenta, ovary, skeletal muscle, prostate, testis, colon and small intestine and fetal liver, lung and kidney, but not in peripheral blood lymphocyte.

Evidence on tissue expression from TISSUES for VEGFC Gene

  • Skin(4.5)
  • Heart(3.1)
  • Lymph node(3.1)
  • Blood(2.8)
  • Intestine(2.5)
  • Muscle(2.5)
  • Thyroid gland(2.4)
  • Eye(2.3)
  • Lung(2.3)
  • Spleen(2.2)
  • Liver(2.2)
  • Kidney(2.2)
  • Nervous system(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VEGFC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • reproductive
Regions:
Head and neck:
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • skin
genes like me logo Genes that share expression patterns with VEGFC: view

Primer products for research

No data available for mRNA differential expression in normal tissues for VEGFC Gene

Orthologs for VEGFC Gene

This gene was present in the common ancestor of chordates.

Orthologs for VEGFC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VEGFC 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia VEGFC 29 30
  • 90.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia VEGFC 29 30
  • 90.29 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Vegfc 29 16 30
  • 87.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Vegfc 29
  • 87.55 (n)
Oppossum
(Monodelphis domestica)
Mammalia VEGFC 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
-- 30
  • 43 (a)
OneToMany
Chicken
(Gallus gallus)
Aves VEGFC 29 30
  • 79.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia VEGFC 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vegfc 29
  • 74.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii vegfc 29 30
  • 63.94 (n)
OneToOne
Dr.26450 29
Species where no ortholog for VEGFC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for VEGFC Gene

ENSEMBL:
Gene Tree for VEGFC (if available)
TreeFam:
Gene Tree for VEGFC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VEGFC: view image
Alliance of Genome Resources:
Additional Orthologs for VEGFC

Paralogs for VEGFC Gene

Paralogs for VEGFC Gene

(1) SIMAP similar genes for VEGFC Gene using alignment to 2 proteins:

  • VEGFC_HUMAN
  • Q6FH59_HUMAN
genes like me logo Genes that share paralogs with VEGFC: view

Variants for VEGFC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VEGFC Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1010318 Uncertain Significance: not provided 176,727,806(-) T/A
NM_005429.5(VEGFC):c.524A>T (p.Asn175Ile)
MISSENSE
993883 Benign: Lymphedema, hereditary, ID 176,727,966(-) T/C
NM_005429.5(VEGFC):c.364A>G (p.Ile122Val)
MISSENSE
994064 Benign: Lymphedema, hereditary, ID 176,729,712(-) C/T
NM_005429.5(VEGFC):c.182G>A (p.Arg61Gln)
MISSENSE
rs1057524647 Pathogenic: not provided 176,727,970(-) T/A
NM_005429.5(VEGFC):c.362-2A>T
SPLICE_ACCEPTOR
rs587777566 Pathogenic: Lymphedema, hereditary, ID 176,711,631(-) G/GAA
NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VEGFC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for VEGFC Gene

Variant ID Type Subtype PubMed ID
esv1655976 CNV deletion 17803354
esv2658768 CNV deletion 23128226
esv2670195 CNV deletion 23128226
esv2728772 CNV deletion 23290073
esv2728777 CNV deletion 23290073
esv3603282 CNV loss 21293372
nsv1109654 CNV deletion 24896259
nsv289896 CNV deletion 16902084
nsv4613 CNV insertion 18451855
nsv822850 CNV gain 20364138

Variation tolerance for VEGFC Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VEGFC Gene

Human Gene Mutation Database (HGMD)
VEGFC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VEGFC
Leiden Open Variation Database (LOVD)
VEGFC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VEGFC Gene

Disorders for VEGFC Gene

MalaCards: The human disease database

(60) MalaCards diseases for VEGFC Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
lymphatic malformation 4
  • lmphm4
hereditary lymphedema id
  • lmph1d
lymphatic malformation 1
  • lmphm1
lymphangioma
  • benign lymphangioma
primary lymphedema
  • lymphedema primary
- elite association - COSMIC cancer census association via MalaCards
Search VEGFC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VEGFC_HUMAN
  • Lymphatic malformation 4 (LMPHM4) [MIM:615907]: A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM4 is an autosomal dominant form with onset at birth or in early childhood. Affected individuals manifest lymphedema of lower limbs with prominent veins, and impaired lymphatic uptake and drainage. Additional features are nail dysplasia, skin hyperkeratosis and papillomatosis. {ECO:0000269 PubMed:23410910, ECO:0000269 PubMed:24744435}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for VEGFC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VEGFC: view

No data available for Genatlas for VEGFC Gene

Publications for VEGFC Gene

  1. A novel vascular endothelial growth factor, VEGF-C, is a ligand for the Flt4 (VEGFR-3) and KDR (VEGFR-2) receptor tyrosine kinases. (PMID: 8617204) Joukov V … Alitalo K (The EMBO journal 1996) 2 3 4 22
  2. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. (PMID: 24744435) Balboa-Beltran E … Barros F (Journal of medical genetics 2014) 3 4 72
  3. Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema. (PMID: 23410910) Gordon K … Ostergaard P (Circulation research 2013) 3 4 72
  4. Structural determinants of growth factor binding and specificity by VEGF receptor 2. (PMID: 20145116) Leppänen VM … Alitalo K (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 22
  5. Allelic variations in angiogenic pathway genes are associated with preeclampsia. (PMID: 20223440) Srinivas SK … Elovitz MA (American journal of obstetrics and gynecology 2010) 3 22 40

Products for VEGFC Gene

  • Addgene plasmids for VEGFC

Sources for VEGFC Gene