TEK
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | TEK receptor tyrosine kinase |
| EntrezGene | 7010 |
| PheGenI | 7010 |
| VariationViewer | 7010 |
| ClinVar | TEK |
| GeneCards | TEK |
| dbSNP | 7010 |
| Diseases | TEK |
| SADR | 7010 |
| HugeNav | 7010 |
| wikipedia | TEK |
| TEK | |
| gopubmed | TEK |
| EVS | TEK |
| HEFalMp | TEK |
| MyGene2 | TEK |
| 23andMe | TEK |
| UniProt | Q02763 |
| Ensembl | ENSG00000120156 |
| OMIM | 600221 |
| # SNPs | 14 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1334809 | 0 | 27,126,417 | |
| rs146169480 | 0 | 27,173,343 | |
| rs202131936 | 0 | 27,204,929 | |
| rs3780315 | 0 | 27,196,292 | |
| rs387906745 | 5 | 27,212,764 | |
| rs541217363 | 0 | 27,180,259 | |
| rs581724 | 0 | 27,187,424 | |
| rs638203 | 0 | 27,203,136 | |
| rs639225 | 0 | 27,202,872 | |
| rs682632 | 0 | 27,183,465 | |
| rs753021890 | 0 | 27,168,578 | |
| rs7876024 | 0 | 27,202,665 | |
| rs80338908 | 5 | 27,206,762 | |
| rs80338909 | 5 | 27,212,710 |
The TEK gene on chromosome 9 encodes the TEK angiopoietin receptor (tunica interna endothelial cell kinase, also known as Tie2), a receptor tyrosine kinase that regulates vascular homeostasis through auto- and transphosphorylation.
At least two medical conditions have been linked to mutations in the TEK gene:
- Multiple Cutaneous and Mucosal Venous Malformations; mutations include (ClinVar):
- rs80338908
- rs80338909 (both A>G and A>C)
- rs387906745
- Primary Congenital Glaucoma; mutations include [PMID 27270174
]:
- rs541217363 (C>A, not C>T)
- rs146169480
- rs753021890 (G>T, not G>A)
