KDR kinase insert domain receptor
Gene ID: 3791, updated on 2-Nov-2024Gene type: protein coding
Also known as: FLK1; CD309; VEGFR; VEGFR2
- See all available tests in GTR for this gene
- Go to complete Gene record for KDR
- Go to Variation Viewer for KDR variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Capillary infantile hemangioma | See labs |
| Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib. GeneReviews: Not available |
Genomic context
- Location:
- 4q12
- Sequence:
- Chromosome: 4; NC_000004.12 (55078481..55125595, complement)
- Total number of exons:
- 30
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KDR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/KDR genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KDR @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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