ENSG00000037280


Homo sapiens

Features
Gene ID: ENSG00000037280
  
Biological name :FLT4
  
Synonyms : FLT4 / fms related tyrosine kinase 4 / P35916
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q35.3
Gene start: 180601506
Gene end: 180649624
  
Corresponding Affymetrix probe sets: 210316_at (Human Genome U133 Plus 2.0 Array)   229902_at (Human Genome U133 Plus 2.0 Array)   234379_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000481134
Ensembl peptide - ENSP00000261937
Ensembl peptide - ENSP00000377016
Ensembl peptide - ENSP00000421535
Ensembl peptide - ENSP00000426057
NCBI entrez gene - 2324     See in Manteia.
OMIM - 136352
RefSeq - XM_017009268
RefSeq - XM_011534478
RefSeq - XM_011534484
RefSeq - XM_017009263
RefSeq - XM_017009264
RefSeq - XM_017009265
RefSeq - XM_017009266
RefSeq - XM_017009267
RefSeq - NM_001354989
RefSeq - NM_002020
RefSeq - NM_182925
RefSeq Peptide - NP_891555
RefSeq Peptide - NP_001341918
RefSeq Peptide - NP_002011
swissprot - B5A927
swissprot - P35916
swissprot - D6RFF2
swissprot - E9PD35
Ensembl - ENSG00000037280
  
Related genetic diseases (OMIM): 153100 - Lymphedema, hereditary, IA, 153100
  602089 - Hemangioma, capillary infantile, somatic, 602089
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 flt4ENSDARG00000104453Danio rerio
 FLT4ENSGALG00000005802Gallus gallus
 Flt4ENSMUSG00000020357Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KDR / P35968 / kinase insert domain receptorENSG0000012805242
FLT1 / P17948 / fms related tyrosine kinase 1ENSG0000010275538
P16234 / PDGFRA / platelet derived growth factor receptor alphaENSG0000013485323
P09619 / PDGFRB / platelet derived growth factor receptor betaENSG0000011372122
KIT / P10721 / KIT proto-oncogene receptor tyrosine kinaseENSG0000015740421
CSF1R / P07333 / colony stimulating factor 1 receptorENSG0000018257821
FLT3 / P36888 / fms related tyrosine kinase 3ENSG0000012202519
RET / P07949 / ret proto-oncogeneENSG0000016573118
FGFR3 / P22607 / fibroblast growth factor receptor 3ENSG0000006807818
FGFR1 / P11362 / fibroblast growth factor receptor 1ENSG0000007778218
FGFR2 / P21802 / fibroblast growth factor receptor 2ENSG0000006646818
FGFR4 / P22455 / fibroblast growth factor receptor 4ENSG0000016086717


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR001824  Tyrosine-protein kinase, receptor class III, conserved site
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR009137  Vascular endothelial growth factor receptor 3 (VEGFR3)
 IPR011009  Protein kinase-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IMP
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IMP
 biological_processGO:0001944 vasculature development ISS
 biological_processGO:0001945 lymph vessel development ISS
 biological_processGO:0001946 lymphangiogenesis ISS
 biological_processGO:0002040 sprouting angiogenesis ISS
 biological_processGO:0003016 respiratory system process IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0008284 positive regulation of cell proliferation IGI
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IMP
 biological_processGO:0010595 positive regulation of endothelial cell migration IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0035924 cellular response to vascular endothelial growth factor stimulus IMP
 biological_processGO:0038084 vascular endothelial growth factor signaling pathway IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043410 positive regulation of MAPK cascade IMP
 biological_processGO:0046330 positive regulation of JNK cascade IMP
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0048010 vascular endothelial growth factor receptor signaling pathway IEA
 biological_processGO:0048286 lung alveolus development IEA
 biological_processGO:0048514 blood vessel morphogenesis ISS
 biological_processGO:0060312 regulation of blood vessel remodeling ISS
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IMP
 biological_processGO:0090037 positive regulation of protein kinase C signaling IMP
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043235 receptor complex IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity IEA
 molecular_functionGO:0005021 vascular endothelial growth factor-activated receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019838 growth factor binding IPI
 molecular_functionGO:0019903 protein phosphatase binding IPI
 molecular_functionGO:0036328 VEGF-C-activated receptor activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
VEGF binds to VEGFR leading to receptor dimerization
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000034 Hydrocele 
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 HP:0001028 Hemangiomas "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators]
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 HP:0001560 Abnormality of the amniotic fluid "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001790 Nonimmune hydrops fetalis 
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 HP:0003550 Lymphedema, predominantly in the lower limbs 
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 HP:0003577 Onset at birth 
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 HP:0003759 Lymphography shows hypoplasia of lymphatic vessels 
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 HP:0005306 Capillary hemangiomas "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators]
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 HP:0007448 Hyperkeratosis over edematous areas 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000150630 VEGFC / P49767 / vascular endothelial growth factor C  / reaction / complex
 ENSG00000037280 FLT4 / P35916 / fms related tyrosine kinase 4  / reaction / complex
 ENSG00000165197 VEGFD / O43915 / vascular endothelial growth factor D  / reaction / complex






 

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