Gene Gene information from NCBI Gene database.
Entrez ID 2324
Gene name Fms related receptor tyrosine kinase 4
Gene symbol FLT4
Synonyms (NCBI Gene)
CHTD7FLT-4FLT41LMPH1ALMPHM1PCLVEGFR-3VEGFR3
Chromosome 5
Chromosome location 5q35.3
Summary 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
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs34255532 G>A,C Pathogenic, uncertain-significance, benign Non coding transcript variant, coding sequence variant, missense variant
rs121909650 C>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs121909651 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs121909652 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs121909653 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
59
miRTarBase ID miRNA Experiments Reference
MIRT043539 hsa-miR-331-3p CLASH 23622248
MIRT053184 hsa-miR-1236-3p Luciferase reporter assaypSILACqRT-PCRWestern blot 22223733
MIRT053184 hsa-miR-1236-3p Luciferase reporter assaypSILACqRT-PCRWestern blot 22223733
MIRT999075 hsa-miR-1184 CLIP-seq
MIRT999076 hsa-miR-1205 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
NFKB1 Activation 19901262
RELA Activation 19901262
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IEA
GO:0001934 Process Positive regulation of protein phosphorylation IMP 19779139
GO:0001938 Process Positive regulation of endothelial cell proliferation IEA
GO:0001938 Process Positive regulation of endothelial cell proliferation IMP 11532940
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
136352 3767 ENSG00000037280
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35916
Protein 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)
Protein function Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFC and VEGFD, and plays an essential role in adult lymphangiogenesis and in the development of the vascular network and the cardiovascular system during embryonic development. P
PDB 4BSJ , 4BSK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 231 314 Domain
PF13927 Ig_3 559 657 Domain
PF07679 I-set 678 765 Immunoglobulin I-set domain Domain
PF17988 VEGFR-2_TMD 770 804 VEGFR-2 Transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 845 1169 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity 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:0000269|PubMed:1327
Sequence
MQRGAALCLRLWLCLGLLDGLVSGYSMTPPTLNITEESHVIDTGDSLSISCRGQHPLEWA
WPGAQEAPATGDKDSEDTGVVRDCEGTDARPYCKVLLLHEVHANDTGSYVCYYKYIKARI
EGTTAASSYVFVRDFEQPFINKPDTLLVNRKDAMWVPCLVSIPGLNVTLRSQSSVLWPDG
QEVVWDDRRGMLVSTPLLHDALYLQCETTWGDQDFLSNPFLVHITGNELYDIQLLPRKSL
ELLVGEKLVLNCTVWAEFNSGVTFDWDYPGKQAERGKWVPERRSQQTHTELSSILTIHNV
SQHDLGSYVCKANN
GIQRFRESTEVIVHENPFISVEWLKGPILEATAGDELVKLPVKLAA
YPPPEFQWYKDGKALSGRHSPHALVLKEVTEASTGTYTLALWNSAAGLRRNISLELVVNV
PPQIHEKEASSPSIYSRHSRQALTCTAYGVPLPLSIQWHWRPWTPCKMFAQRSLRRRQQQ
DLMPQCRDWRAVTTQDAVNPIESLDTWTEFVEGKNKTVSKLVIQNANVSAMYKCVVSNKV
GQDERLIYFYVTTIPDGFTIESKPSEELLEGQPVLLSCQADSYKYEHLRWYRLNLSTLHD
AHGNPLLLDCKNVHLFATPLAASLEEVAPGARHATLSLSIPRVAPEHEGHYVCEVQD
RRS
HDKHCHKKYLSVQALEAPRLTQNLTDLLVNVSDSLEMQCLVAGAHAPSIVWYKDERLLEE
KSGVDLADSNQKLSIQRVREEDAGRYLCSVCNAKGCVNSSASVAV
EGSEDKGSMEIVILV
GTGVIAVFFWVLLLLIFCNMRRPA
HADIKTGYLSIIMDPGEVPLEEQCEYLSYDASQWEF
PRERLHLGRVLGYGAFGKVVEASAFGIHKGSSCDTVAVKMLKEGATASEHRALMSELKIL
IHIGNHLNVVNLLGACTKPQGPLMVIVEFCKYGNLSNFLRAKRDAFSPCAEKSPEQRGRF
RAMVELARLDRRRPGSSDRVLFARFSKTEGGARRASPDQEAEDLWLSPLTMEDLVCYSFQ
VARGMEFLASRKCIHRDLAARNILLSESDVVKICDFGLARDIYKDPDYVRKGSARLPLKW
MAPESIFDKVYTTQSDVWSFGVLLWEIFSLGASPYPGVQINEEFCQRLRDGTRMRAPELA
TPAIRRIMLNCWSGDPKARPAFSELVEIL
GDLLQGRGLQEEEEVCMAPRSSQSSEEGSFS
QVSTMALHIAQADAEDSPPSLQRHSLAARYYNWVSFPGCLARGAETRGSSRMKTFEEFPM
TPTTYKGSVDNQTDSGMVLASEEFEQIESRHRQESGFSCKGPGQNVAVTRAHPDSQGRRR
RPERGARGGQVFYNSEYGELSEPSEEDHCSPSARVTFFTDNSY
Sequence length 1363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Pathways in cancer
Breast cancer
  VEGF binds to VEGFR leading to receptor dimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
180
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Capillary infantile hemangioma Likely pathogenic rs1762335528 RCV004796370
Congenital heart defects, multiple types, 7 Pathogenic; Likely pathogenic rs2127839096, rs146006663, rs1415338572, rs2480880177, rs2480983963, rs1764039505, rs1422886839, rs755445139, rs1581616817, rs1581655293, rs1762335528 RCV001533291
RCV001706754
RCV002470578
RCV003986017
RCV004515783
RCV004555197
RCV001003426
RCV001003427
RCV001003429
RCV001003430
RCV004796370
FLT4-related disorder Pathogenic; Likely pathogenic rs2480883778, rs2480933426, rs2480922403, rs2127787560, rs2480869226, rs121909650, rs121909655, rs1451816005, rs1762335528 RCV003402389
RCV003421183
RCV003397862
RCV003392950
RCV003410866
RCV004751213
RCV003398529
RCV004751756
RCV003393877
Hereditary lymphedema type I Likely pathogenic; Pathogenic rs1761973773, rs121909650, rs2480842959, rs2480886920, rs2480884226, rs2480865554, rs267606818, rs121909651, rs121909652, rs121909653, rs121909654, rs121909655, rs121909656, rs587776833, rs1451816005
View all (1 more)
RCV001331922
RCV003340475
RCV003154635
RCV003445406
RCV003445409
RCV003445410
RCV000017647
RCV000017648
RCV000017649
RCV000017650
RCV000017651
RCV000017653
RCV000017654
RCV000017655
RCV000017656
RCV000853321
RCV001199191
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Carcinoma of colon Uncertain significance; Benign; Likely benign rs796052110, rs796052111, rs56364366, rs796052112, rs796052113, rs796052114, rs796052109, rs796052097, rs796052098, rs751737827, rs796052099, rs796052100, rs796052101, rs796052102, rs796052103
View all (7 more)
RCV000186544
RCV000186545
RCV000186546
RCV000186547
RCV000186548
RCV000186549
RCV000186543
RCV000186530
RCV000186531
RCV000186532
RCV000186533
RCV000186534
RCV000186535
RCV000186536
RCV000186537
RCV000186538
RCV000186539
RCV000186540
RCV000186541
RCV000186542
RCV000987648
RCV000987647
Cervical cancer Benign rs34371546 RCV005906980
Clear cell carcinoma of kidney Benign rs34371546 RCV005906981
Colorectal cancer Benign rs34255532 RCV003323277
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 10594750
Acute Kidney Injury Associate 34112226
Adenocarcinoma of Lung Associate 16116610, 17970036, 29048623, 34642306
Adrenal Insufficiency Associate 23878260
Alzheimer Disease Stimulate 31332262
Alzheimer Disease Associate 36680854, 36905877
Atherosclerosis Associate 14990597
Autistic Disorder Associate 28991257
Autonomic Nervous System Diseases Associate 34681005
Behcet Syndrome Associate 34918882