TEK Gene (TEK Receptor Tyrosine Kinase)
Angiopoietin-1 Receptor; Key Regulator of Vascular Development and Maintenance
Gene Information Card
| Symbol | TEK |
|---|---|
| Full Name | TEK receptor tyrosine kinase |
| Gene Type | protein-coding |
| Chromosomal Location | 9p21.2 |
| NCBI Gene ID | 7010 ncbi.nlm.nih.gov/gene/7010 |
| Ensembl ID | ENSG00000120156 |
| UniProt ID | Q02763 |
| OMIM ID | 600221 |
| HGNC ID | 11724 |
| Aliases | TIE2, CD202B, VMCM, VMCM1, GLC3F, TIE-2, TEK tyrosine kinase, endothelial |
Description
The TEK gene encodes a receptor tyrosine kinase (TIE2) that is predominantly expressed on endothelial cells. It binds angiopoietin-1 (ANGPT1) and angiopoietin-2 (ANGPT2), regulating angiogenesis, vascular stability, and remodeling. TEK signaling is critical for embryonic vascular development, adult vascular homeostasis, and lymphatic vessel maintenance. Mutations in TEK are associated with venous malformations, primary congenital glaucoma, and hereditary hemorrhagic telangiectasia-like phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Venous malformations, multiple cutaneous and mucosal (VMCM) | Gain-of-function mutations in the kinase domain lead to constitutive activation of TEK, causing abnormal venous morphogenesis. | OMIM #600221; ClinVar |
| Primary congenital glaucoma (GLC3F) | Loss-of-function or hypomorphic variants impair TEK signaling in the trabecular meshwork, disrupting aqueous humor outflow. | OMIM #231300; ClinVar |
| Hereditary hemorrhagic telangiectasia (HHT)-like phenotype | Rare TEK variants may disrupt angiopoietin-TIE2 signaling, leading to vascular fragility and telangiectasias. | OMIM #600221; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 38.2 | High |
| Heart | 27.5 | High |
| Placenta | 25.1 | High |
| Kidney | 18.9 | Medium |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 62.4 | High; canonical endothelial expression |
| HMVEC (dermal microvascular endothelial) | 55.1 | High |
| A549 (lung carcinoma) | 2.3 | Low |
| HEK 293 (embryonic kidney) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2545C>T (p.Arg849Trp) | Missense | ~30% in VMCM | Gain-of-function; constitutive kinase activation |
| c.2690A>G (p.Tyr897Cys) | Missense | ~15% in VMCM | Gain-of-function; increased receptor dimerization |
| c.1231C>T (p.Arg411Cys) | Missense | Rare in GLC3F | Loss-of-function; impaired ligand binding |
| c.2185G>A (p.Glu729Lys) | Missense | Rare in HHT-like | Dominant-negative; disrupted signaling |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg411Cys) reduce receptor activation and downstream signaling, associated with primary congenital glaucoma.
Gain of Function (GOF)
Common missense mutations in the kinase domain (e.g., p.Arg849Trp, p.Tyr897Cys) cause ligand-independent activation, leading to venous malformations.
Dominant Negative (DN)
Some variants (e.g., p.Glu729Lys) form inactive heterodimers with wild-type TEK, suppressing normal signaling and contributing to vascular anomalies.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Angiopoietin-TIE2 signaling pathway (Reactome: R-HSA-210993)
• VEGFA-VEGFR2 pathway (Reactome: R-HSA-194138)
• Endothelial cell migration and tube formation (KEGG: hsa04510 - Focal adhesion)
Protein Summary
TEK (TIE2) is a 1124-amino-acid receptor tyrosine kinase with an extracellular domain containing immunoglobulin-like and EGF-like repeats, and an intracellular tyrosine kinase domain. Upon binding angiopoietin-1, TEK autophosphorylates and activates downstream pathways including PI3K/AKT and MAPK, promoting endothelial cell survival, migration, and vessel stabilization. Angiopoietin-2 can act as a context-dependent antagonist. The protein is essential for vascular development and maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TEK Knockout HEK293 Cell Line | EDJ-KQ759 | Human | 7010 | Details Get a Quote |
| TEKT2 Knockout HEK293 Cell Line | EDJ-KQ8748 | Human | 27285 | Details Get a Quote |
| TEKTL1 Knockout HEK293 Cell Line | EDJ-KQ8915 | Human | 126402 | Details Get a Quote |
| TEKT1 Knockout HEK293 Cell Line | EDJ-KQ9880 | Human | 83659 | Details Get a Quote |
| TEKT5 Knockout HEK293 Cell Line | EDJ-KQ10470 | Human | 146279 | Details Get a Quote |
| TEKT4 Knockout HEK293 Cell Line | EDJ-KQ11302 | Human | 150483 | Details Get a Quote |
| TEKTIP1 Knockout HEK293 Cell Line | EDJ-KQ14898 | Human | 100128569 | Details Get a Quote |
| TEKT3 Knockout HEK293 Cell Line | EDJ-KQ15677 | Human | 64518 | Details Get a Quote |
| TEK Knockout HeLa Cell Line | EDJ-KQ19433 | Human | 7010 | Details Get a Quote |
| TEKTIP1 Knockout A-549 Cell Line | EDJ-KQ46584 | Human | 100128569 | Details Get a Quote |
| TEKTIP1 Knockout HCT 116 Cell Line | EDJ-KQ46586 | Human | 100128569 | Details Get a Quote |
| TEKTIP1 Knockout HeLa Cell Line | EDJ-KQ46587 | Human | 100128569 | Details Get a Quote |
| TEKT2 Knockout HeLa Cell Line | EDJ-KQ56045 | Human | 27285 | Details Get a Quote |
| TEKT3 Knockout HeLa Cell Line | EDJ-KQ57062 | Human | 64518 | Details Get a Quote |
| TEKT1 Knockout HeLa Cell Line | EDJ-KQ57462 | Human | 83659 | Details Get a Quote |
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