FLT4 (fms related receptor tyrosine kinase 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2324
Gene name Gene Name - the full gene name approved by the HGNC.
Fms related receptor tyrosine kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FLT4
Synonyms (NCBI Gene) Gene synonyms aliases
CHTD7, FLT-4, FLT41, LMPH1A, LMPHM1, PCL, VEGFR-3, VEGFR3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(59)
miRTarBase ID miRNA Experiments Reference
MIRT043539 hsa-miR-331-3p CLASH 23622248
MIRT053184 hsa-miR-1236-3p Luciferase reporter assay, pSILAC, qRT-PCR, Western blot 22223733
MIRT053184 hsa-miR-1236-3p Luciferase reporter assay, pSILAC, qRT-PCR, Western blot 22223733
MIRT999075 hsa-miR-1184 CLIP-seq
MIRT999076 hsa-miR-1205 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
NFKB1 Activation 19901262
RELA Activation 19901262
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
136352 3767 ENSG00000037280
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
SQHDLGSYVCKANNGIQRFRESTEVIVHENPFISVEWLKGPILEATAGDELVKLPVKLAA
YPPPEFQWYKDGKALSGRHSPHALVLKEVTEASTGTYTLALWNSAAGLRRNISLELVVNV
PPQIHEKEASSPSIYSRHSRQALTCTAYGVPLPLSIQWHWRPWTPCKMFAQRSLRRRQQQ
DLMPQCRDWRAVTTQDAVNPIESLDTWTEFVEGKNKTVSKLVIQNANVSAMYKCVVSNKV
GQDERLIYFYVTTIPDGFTIESKPSEELLEGQPVLLSCQADSYKYEHLRWYRLNLSTLHD
AHGNPLLLDCKNVHLFATPLAASLEEVAPGARHATLSLSIPRVAPEHEGHYVCEVQDRRS
HDKHCHKKYLSVQALEAPRLTQNLTDLLVNVSDSLEMQCLVAGAHAPSIVWYKDERLLEE
KSGVDLADSNQKLSIQRVREEDAGRYLCSVCNAKGCVNSSASVAVEGSEDKGSMEIVILV
GTGVIAVFFWVLLLLIFCNMRRPAHADIKTGYLSIIMDPGEVPLEEQCEYLSYDASQWEF
PRERLHLGRVLGYGAFGKVVEASAFGIHKGSSCDTVAVKMLKEGATASEHRALMSELKIL
IHIGNHLNVVNLLGACTKPQGPLMVIVEFCKYGNLSNFLRAKRDAFSPCAEKSPEQRGRF
RAMVELARLDRRRPGSSDRVLFARFSKTEGGARRASPDQEAEDLWLSPLTMEDLVCYSFQ
VARGMEFLASRKCIHRDLAARNILLSESDVVKICDFGLARDIYKDPDYVRKGSARLPLKW
MAPESIFDKVYTTQSDVWSFGVLLWEIFSLGASPYPGVQINEEFCQRLRDGTRMRAPELA
TPAIRRIMLNCWSGDPKARPAFSELVEILGDLLQGRGLQEEEEVCMAPRSSQSSEEGSFS
QVSTMALHIAQADAEDSPPSLQRHSLAARYYNWVSFPGCLARGAETRGSSRMKTFEEFPM
TPTTYKGSVDNQTDSGMVLASEEFEQIESRHRQESGFSCKGPGQNVAVTRAHPDSQGRRR
RPERGARGGQVFYNSEYGELSEPSEEDHCSPSARVTFFTDNSY
Sequence length 1363
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital heart defects Congenital heart defects, multiple types, 7 rs755445139, rs1581616817, rs1581655293 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs1451816005 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
colorectal cancer Colorectal cancer N/A N/A ClinVar
Dementia Dementia N/A N/A GWAS
Hemangioma capillary infantile hemangioma, Capillary infantile hemangioma N/A N/A GenCC, ClinVar
Lymphatic Malformation lymphatic malformation, lymphatic malformation 1 N/A N/A GenCC
Show/Hide Text Mining Associations (118)
Associations from Text Mining Disease 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