Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3791
Gene name Gene Name - the full gene name approved by the HGNC.
Kinase insert domain receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KDR
Synonyms (NCBI Gene) Gene synonyms aliases
CD309, FLK1, VEGFR, VEGFR2
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34231037 A>G Likely-benign, risk-factor Missense variant, coding sequence variant
rs121917766 G>A,C Not-provided, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006277 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006442 hsa-miR-200b-3p Luciferase reporter assay, Western blot 21544626
MIRT006277 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006442 hsa-miR-200b-3p Luciferase reporter assay, Western blot 21544626
MIRT006277 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
Transcription factors
Transcription factor Regulation Reference
E2F1 Unknown 20516113
ESR1 Activation 16574784
HEY1 Repression 16782059;17028039;18694572
NANOG Activation 21119109
NANOG Activation 21119109
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001525 Process Angiogenesis IBA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis TAS 10022831
GO:0001541 Process Ovarian follicle development IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191306 6307 ENSG00000128052
Protein
UniProt ID P35968
Protein name Vascular endothelial growth factor receptor 2 (VEGFR-2) (EC 2.7.10.1) (Fetal liver kinase 1) (FLK-1) (Kinase insert domain receptor) (KDR) (Protein-tyrosine kinase receptor flk-1) (CD antigen CD309)
Protein function Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation,
PDB 1VR2 , 1Y6A , 1Y6B , 1YWN , 2M59 , 2MET , 2MEU , 2OH4 , 2P2H , 2P2I , 2QU5 , 2QU6 , 2RL5 , 2X1W , 2X1X , 2XIR , 3B8Q , 3B8R , 3BE2 , 3C7Q , 3CJF , 3CJG , 3CP9 , 3CPB , 3CPC , 3DTW , 3EFL , 3EWH , 3KVQ , 3S35 , 3S36 , 3S37 , 3U6J , 3V2A , 3V6B , 3VHE , 3VHK , 3VID , 3VNT , 3VO3 , 3WZD , 3WZE , 4AG8 , 4AGC , 4AGD , 4ASD , 4ASE , 5EW3 , 5OYJ , 6GQO , 6GQP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 229 321 Immunoglobulin domain Domain
PF07679 I-set 333 417 Immunoglobulin I-set domain Domain
PF13927 Ig_3 550 646 Domain
PF07679 I-set 667 754 Immunoglobulin I-set domain Domain
PF17988 VEGFR-2_TMD 759 793 VEGFR-2 Transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 834 1160 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in cornea (at protein level). Widely expressed. {ECO:0000269|PubMed:19668192}.
Sequence
MQSKVLLAVALWLCVETRAASVGLPSVSLDLPRLSIQKDILTIKANTTLQITCRGQRDLD
WLWPNNQSGSEQRVEVTECSDGLFCKTLTIPKVIGNDTGAYKCFYRETDLASVIYVYVQD
YRSPFIASVSDQHGVVYITENKNKTVVIPCLGSISNLNVSLCARYPEKRFVPDGNRISWD
SKKGFTIPSYMISYAGMVFCEAKINDESYQSIMYIVVVVGYRIYDVVLSPSHGIELSVGE
KLVLNCTARTELNVGIDFNWEYPSSKHQHKKLVNRDLKTQSGSEMKKFLSTLTIDGVTRS
DQGLYTCAASSGLMTKKNSTF
VRVHEKPFVAFGSGMESLVEATVGERVRIPAKYLGYPPP
EIKWYKNGIPLESNHTIKAGHVLTIMEVSERDTGNYTVILTNPISKEKQSHVVSLVV
YVP
PQIGEKSLISPVDSYQYGTTQTLTCTVYAIPPPHHIHWYWQLEEECANEPSQAVSVTNPY
PCEEWRSVEDFQGGNKIEVNKNQFALIEGKNKTVSTLVIQAANVSALYKCEAVNKVGRGE
RVISFHVTRGPEITLQPDMQPTEQESVSLWCTADRSTFENLTWYKLGPQPLPIHVGELPT
PVCKNLDTLWKLNATMFSNSTNDILIMELKNASLQDQGDYVCLAQD
RKTKKRHCVVRQLT
VLERVAPTITGNLENQTTSIGESIEVSCTASGNPPPQIMWFKDNETLVEDSGIVLKDGNR
NLTIRRVRKEDEGLYTCQACSVLGCAKVEAFFII
EGAQEKTNLEIIILVGTAVIAMFFWL
LLVIILRTVKRAN
GGELKTGYLSIVMDPDELPLDEHCERLPYDASKWEFPRDRLKLGKPL
GRGAFGQVIEADAFGIDKTATCRTVAVKMLKEGATHSEHRALMSELKILIHIGHHLNVVN
LLGACTKPGGPLMVIVEFCKFGNLSTYLRSKRNEFVPYKTKGARFRQGKDYVGAIPVDLK
RRLDSITSSQSSASSGFVEEKSLSDVEEEEAPEDLYKDFLTLEHLICYSFQVAKGMEFLA
SRKCIHRDLAARNILLSEKNVVKICDFGLARDIYKDPDYVRKGDARLPLKWMAPETIFDR
VYTIQSDVWSFGVLLWEIFSLGASPYPGVKIDEEFCRRLKEGTRMRAPDYTTPEMYQTML
DCWHGEPSQRPTFSELVEHL
GNLLQANAQQDGKDYIVLPISETLSMEEDSGLSLPTSPVS
CMEEEEVCDPKFHYDNTAGISQYLQNSKRKSRPVSVKTFEDIPLEEPEVKVIPDDNQTDS
GMVLASEELKTLEDRTKLSPSFGGMVPSKSRESVASEGSNQTSGYQSGYHSDDTDTTVYS
SEEAELLKLIEIGVQTGSTAQILQPDSGTTLSSPPV
Sequence length 1356
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
VEGF signaling pathway
Focal adhesion
Proteoglycans in cancer
Fluid shear stress and atherosclerosis
  Neurophilin interactions with VEGF and VEGFR
VEGF binds to VEGFR leading to receptor dimerization
Integrin cell surface interactions
VEGFA-VEGFR2 Pathway
VEGFR2 mediated cell proliferation
Signaling by membrane-tethered fusions of PDGFRA or PDGFRB
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hemangioma Capillary infantile hemangioma rs121917766 N/A
premature ovarian failure Premature ovarian failure rs587778428 N/A
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
Angioblastoma tufted angioma of skin N/A N/A ClinVar
Endometriosis Endometriosis N/A N/A GWAS
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 N/A N/A ClinVar
Otosclerosis Otosclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Actinic cheilitis Associate 25895461
Acute Kidney Injury Associate 34112226
Adenocarcinoma Associate 21175993, 21751195, 26525902, 29985074
Adenoma Associate 25372416
Airway Obstruction Associate 26488115
Albuminuria Stimulate 31023084
Alzheimer Disease Associate 30576228, 37596325, 39334869
Ameloblastoma Associate 33067558
Amyotrophic Lateral Sclerosis Inhibit 17456229
Amyotrophic Lateral Sclerosis Associate 40097075