Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2324
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol FLT4   Gene   UCSC   Ensembl
Aliases FLT-4, FLT41, LMPH1A, PCL, VEGFR-3, VEGFR3
Gene name fms related tyrosine kinase 4
Alternate names vascular endothelial growth factor receptor 3, fms-like tyrosine kinase 4, tyrosine-protein kinase receptor FLT4,
Gene location 5q35.3 (180650297: 180601505)     Exons: 35     NC_000005.10
Gene summary(Entrez) This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
OMIM 136352

SNPs

rs4837864

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000671.2   g.116782154T>C
NC_000009.11   g.119544433T>C
NC_000009.12   g.116782154T>C
NG_021409.1   g.637885A>G
NM_014010.4   c.2243+23478A>G

Protein Summary

Protein general information P35916  

Name: Vascular endothelial growth factor receptor 3 (VEGFR 3) (EC 2.7.10.1) (Fms like tyrosine kinase 4) (FLT 4) (Tyrosine protein kinase receptor FLT4)

Length: 1363  Mass: 152,757

Tissue specificity: Detected in endothelial cells (at protein level). Widely expressed. Detected in fetal spleen, lung and brain. Detected in adult liver, muscle, thymus, placenta, lung, testis, ovary, prostate, heart, and kidney. {ECO

Sequence MQRGAALCLRLWLCLGLLDGLVSGYSMTPPTLNITEESHVIDTGDSLSISCRGQHPLEWAWPGAQEAPATGDKDS
EDTGVVRDCEGTDARPYCKVLLLHEVHANDTGSYVCYYKYIKARIEGTTAASSYVFVRDFEQPFINKPDTLLVNR
KDAMWVPCLVSIPGLNVTLRSQSSVLWPDGQEVVWDDRRGMLVSTPLLHDALYLQCETTWGDQDFLSNPFLVHIT
GNELYDIQLLPRKSLELLVGEKLVLNCTVWAEFNSGVTFDWDYPGKQAERGKWVPERRSQQTHTELSSILTIHNV
SQHDLGSYVCKANNGIQRFRESTEVIVHENPFISVEWLKGPILEATAGDELVKLPVKLAAYPPPEFQWYKDGKAL
SGRHSPHALVLKEVTEASTGTYTLALWNSAAGLRRNISLELVVNVPPQIHEKEASSPSIYSRHSRQALTCTAYGV
PLPLSIQWHWRPWTPCKMFAQRSLRRRQQQDLMPQCRDWRAVTTQDAVNPIESLDTWTEFVEGKNKTVSKLVIQN
ANVSAMYKCVVSNKVGQDERLIYFYVTTIPDGFTIESKPSEELLEGQPVLLSCQADSYKYEHLRWYRLNLSTLHD
AHGNPLLLDCKNVHLFATPLAASLEEVAPGARHATLSLSIPRVAPEHEGHYVCEVQDRRSHDKHCHKKYLSVQAL
EAPRLTQNLTDLLVNVSDSLEMQCLVAGAHAPSIVWYKDERLLEEKSGVDLADSNQKLSIQRVREEDAGRYLCSV
CNAKGCVNSSASVAVEGSEDKGSMEIVILVGTGVIAVFFWVLLLLIFCNMRRPAHADIKTGYLSIIMDPGEVPLE
EQCEYLSYDASQWEFPRERLHLGRVLGYGAFGKVVEASAFGIHKGSSCDTVAVKMLKEGATASEHRALMSELKIL
IHIGNHLNVVNLLGACTKPQGPLMVIVEFCKYGNLSNFLRAKRDAFSPCAEKSPEQRGRFRAMVELARLDRRRPG
SSDRVLFARFSKTEGGARRASPDQEAEDLWLSPLTMEDLVCYSFQVARGMEFLASRKCIHRDLAARNILLSESDV
VKICDFGLARDIYKDPDYVRKGSARLPLKWMAPESIFDKVYTTQSDVWSFGVLLWEIFSLGASPYPGVQINEEFC
QRLRDGTRMRAPELATPAIRRIMLNCWSGDPKARPAFSELVEILGDLLQGRGLQEEEEVCMAPRSSQSSEEGSFS
QVSTMALHIAQADAEDSPPSLQRHSLAARYYNWVSFPGCLARGAETRGSSRMKTFEEFPMTPTTYKGSVDNQTDS
GMVLASEEFEQIESRHRQESGFSCKGPGQNVAVTRAHPDSQGRRRRPERGARGGQVFYNSEYGELSEPSEEDHCS
PSARVTFFTDNSY
Structural information
Protein Domains
Ig-like (30-127)
Ig-like (151-213)
Ig-like (219-326)
Ig-like (331-415)
Ig-like (422-552)
Ig-like (555-671)
Ig-like (678-764)
(845-)
Interpro:  IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR011009 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635 IPR001824 IPR009137
Prosite:   PS50835 PS00107 PS50011 PS00109 PS00240

Pfam:  
PF07679 PF07714

PDB:  
4BSJ 4BSK
PDBsum:   4BSJ 4BSK

DIP:  
5739
MINT:   1182429
STRING:   ENSP00000261937;
Other Databases GeneCards:  FLT4;  Malacards:  FLT4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001938 positive regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001944 vasculature development
ISS biological_process
GO:0001945 lymph vessel development
ISS biological_process
GO:0001946 lymphangiogenesis
ISS biological_process
GO:0001946 lymphangiogenesis
IMP biological_process
GO:0002040 sprouting angiogenesis
ISS biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010595 positive regulation of en
dothelial cell migration
IMP biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019903 protein phosphatase bindi
ng
IPI molecular_function
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IMP biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IMP biological_process
GO:0046330 positive regulation of JN
K cascade
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IGI biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0060312 regulation of blood vesse
l remodeling
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0090037 positive regulation of pr
otein kinase C signaling
IMP biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001525 angiogenesis
IEA biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001938 positive regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001944 vasculature development
IEA biological_process
GO:0001944 vasculature development
ISS biological_process
GO:0001945 lymph vessel development
IEA biological_process
GO:0001945 lymph vessel development
ISS biological_process
GO:0001946 lymphangiogenesis
IEA biological_process
GO:0001946 lymphangiogenesis
ISS biological_process
GO:0001946 lymphangiogenesis
IMP biological_process
GO:0002040 sprouting angiogenesis
IEA biological_process
GO:0002040 sprouting angiogenesis
ISS biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IMP molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IEA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IEA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IEA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010595 positive regulation of en
dothelial cell migration
IMP biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019903 protein phosphatase bindi
ng
IPI molecular_function
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IMP biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0038084 vascular endothelial grow
th factor signaling pathw
ay
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IMP biological_process
GO:0046330 positive regulation of JN
K cascade
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IEA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IGI biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
IEA biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0060312 regulation of blood vesse
l remodeling
IEA biological_process
GO:0060312 regulation of blood vesse
l remodeling
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0090037 positive regulation of pr
otein kinase C signaling
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001934 positive regulation of pr
otein phosphorylation
IMP biological_process
GO:0001938 positive regulation of en
dothelial cell proliferat
ion
IMP biological_process
GO:0001944 vasculature development
ISS biological_process
GO:0001945 lymph vessel development
ISS biological_process
GO:0001946 lymphangiogenesis
ISS biological_process
GO:0001946 lymphangiogenesis
IMP biological_process
GO:0002040 sprouting angiogenesis
ISS biological_process
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IMP molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
TAS molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IMP molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
IDA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
TAS biological_process
GO:0008284 positive regulation of ce
ll proliferation
IGI biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010575 positive regulation of va
scular endothelial growth
factor production
IMP biological_process
GO:0010595 positive regulation of en
dothelial cell migration
IMP biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0019838 growth factor binding
IPI molecular_function
GO:0019903 protein phosphatase bindi
ng
IPI molecular_function
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IMP biological_process
GO:0035924 cellular response to vasc
ular endothelial growth f
actor stimulus
IDA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043235 receptor complex
IDA cellular_component
GO:0043410 positive regulation of MA
PK cascade
IMP biological_process
GO:0046330 positive regulation of JN
K cascade
IMP biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IGI biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IMP biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
IDA biological_process
GO:0048010 vascular endothelial grow
th factor receptor signal
ing pathway
TAS biological_process
GO:0048514 blood vessel morphogenesi
s
ISS biological_process
GO:0060312 regulation of blood vesse
l remodeling
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0090037 positive regulation of pr
otein kinase C signaling
IMP biological_process

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04510  Focal adhesion
hsa05224  Breast cancer

Diseases

Associated diseases References
Cancer PMID: 19924384
Endometrial cancer PMID: 10831352
Endometriosis PMID: 21733043
Lymphangioma KEGG: H01471
Lymphedema KEGG: H00535
Tubal infertility INFBASE21733043
Endometriosis INFBASE21733043

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21733043 Endometrio
sis

40 (20 women wi
th endometriosi
s III or IV, 20
with tubal inf
ertility only (
control group)
)

Show abstract