KDR

Chr 4AD

kinase insert domain receptor

Also known as: CD309, FLK1, VEGFR, VEGFR2

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 as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hemangioma, capillary infantile, susceptibility to}MIM #602089
AD
Hemangioma, capillary infantile, somaticMIM #602089

Clinical highlights

Gene-disease validity (ClinGen)
pulmonary arterial hypertension · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
9
Active trials
458
Pubs (1 yr)
P/LP submissions
P/LP missense
0.25
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
📖
GeneReview available — KDR
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 1.000
Z-score 6.73
OE 0.15 (0.090.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.03Z-score
OE missense 0.89 (0.840.95)
659 obs / 737.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.090.25)
00.351.4
Missense OE?0.89 (0.840.95)
00.61.4
Synonymous OE?1.12
01.21.6
LoF obs/exp: 11 / 73.0Missense obs/exp: 659 / 737.5Syn Z: -1.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KDR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Advanced Solid Tumors

Safety of Recombinant Human IL-21-expressing Oncolytic Vaccinia Virus Injection (hV01) in Advanced Tumors

ACTIVE NOT RECRUITING
NCT05914376Phase PHASE1Hangzhou Converd Co., Ltd.Started 2023-07-05
Recombinant human IL-21-expressing oncolytic vaccinia virus injection
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Adding the Immunotherapy Drug Cemiplimab to Usual Treatment for People With Advanced Non-Small Cell Lung Cancer Who Had Previous Treatment With Platinum Chemotherapy and Immunotherapy (An Expanded Lung-MAP Treatment Trial)

RECRUITING
NCT06616584Phase PHASE2, PHASE3SWOG Cancer Research NetworkStarted 2025-05-22
Biospecimen CollectionCemiplimabComputed Tomography
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Comparing Combinations of Targeted Drugs for Advanced Non-Small Cell Lung Cancer That Has EGFR and MET Gene Changes (A Lung-MAP Treatment Trial)

RECRUITING
NCT05642572Phase PHASE2SWOG Cancer Research NetworkStarted 2023-05-05
Biospecimen CollectionCapmatinibComputed Tomography
Lymphoma, Non-HodgkinMultiple MyelomaAdvanced Solid Tumors

Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR)

RECRUITING
NCT03297606Phase PHASE2Canadian Cancer Trials GroupStarted 2018-03-23
OlaparibDasatinibNivolumab plus Ipilimumab
Lung CancerTKI ResistanceEGFR Sensitive Mutation

A Single Center, Single Arm Clinical Study on the Treatment of Advanced Non-small Cell Lung Cancer With Positive EGFR Sensitive Mutations and Failed EGFR TKIs With the Combination of Enrotinib and Paclitaxel Monoclonal Antibody

NOT YET RECRUITING
NCT06048315Phase PHASE3Degan LuStarted 2023-09
AnlotinibPenpulimab
Coronary Disease

Genetic Polymorphism Associated With Coronary Heart Disease Susceptibility and Variability of Clopidogrel Response

ACTIVE NOT RECRUITING
NCT03373552Hôpital Universitaire Fattouma BourguibaStarted 2015-08-12
Platelet function assay
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Targeted Treatment for Advanced Non-Small Cell Lung Cancer That Has a MET Exon 14 Skipping Gene Change (An Expanded Lung-MAP Treatment Trial)

RECRUITING
NCT06031688Phase PHASE2SWOG Cancer Research NetworkStarted 2024-08-08
Biospecimen CollectionComputed TomographyLymphoscintigraphy
BRCA-Mutated Breast CarcinomaHER2-negative Breast Cancer

Neoadjuvant Treatment of gBRCA-Mutated HER2-Negative Breast Cancer With HRS-1167 and Famitinib ± Camrelizumab

RECRUITING
NCT06516289Phase PHASE2Fudan UniversityStarted 2024-09-30
HRS-1167FamitinibCamrelizumab
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Ramucirumab Plus Pembrolizumab vs Usual Care for Treatment of Stage IV or Recurrent Non-Small Cell Lung Cancer Following Immunotherapy, Pragmatica-Lung Study

ACTIVE NOT RECRUITING
NCT05633602Phase PHASE3SWOG Cancer Research NetworkStarted 2023-03-14
ChemotherapyPembrolizumabRamucirumab