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TEK gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

TEK gene

The TEK gene provides instructions for the TEK receptor tyrosine kinase, which is essential for blood vessel formation and the maintenance of vessel integrity.

Overview

The TEK gene (also known as the TIE2 gene) encodes the TEK receptor tyrosine kinase. This receptor is primarily active in endothelial cells, which line the walls of blood vessels. When activated, the TEK receptor triggers chemical signals that facilitate communication between endothelial cells and the surrounding smooth muscle cells. This interaction is necessary for angiogenesis (blood vessel formation) and for maintaining the structure and integrity of blood vessels. The receptor is also found in bone marrow within hematopoietic stem cells, where it is believed to aid in cell growth, division, and specialization.

Health Conditions Related to Genetic Changes

Multiple cutaneous and mucosal venous malformations

Mutations in the TEK gene can cause multiple cutaneous and mucosal venous malformations (VMCM). These mutations typically result in an overactive TEK receptor that is "always turned on."

  • Mechanism: The overactive receptor disrupts communication between endothelial cells and smooth muscle cells.
  • Clinical Presentation: This disruption leads to abnormal blood vessels characterized by a deficiency of smooth muscle cells.
  • Symptoms: Affected individuals develop lesions below the surface of the skin or mucous membranes.

Other Names for This Gene

  • CD202B
  • soluble TIE2 variant 1
  • soluble TIE2 variant 2
  • TEK tyrosine kinase, endothelial
  • TEK tyrosine kinase, endothelial precursor
  • TIE-2
  • TIE2

Frequently Asked Questions

The most common medical approach is low‑dose sirolimus (rapamycin), which inhibits downstream signaling of the over‑active TEK receptor and can reduce lesion size and pain. Local therapies—laser ablation, sclerotherapy, or surgical excision—are used for symptomatic or cosmetically concerning lesions. Ongoing research is evaluating specific TEK inhibitors, but they are not yet standard care.
Most TEK mutations follow an autosomal‑dominant pattern, meaning a single altered copy of the gene can cause disease. Penetrance is variable; some carriers have only a few tiny lesions, while others develop extensive malformations. Affected individuals have a 50 % chance of passing the mutation to each child.
Hormonal changes and increased blood volume during pregnancy can enlarge existing venous malformations and occasionally trigger new ones. Women with known TEK mutations should be monitored by a multidisciplinary team (obstetrics, dermatology, interventional radiology) throughout pregnancy, and prophylactic sirolimus is generally avoided due to fetal risks.
Yes. When multiple venous malformations appear, especially in a family, clinicians often recommend sequencing the TEK (TIE2) gene. Identifying a pathogenic variant confirms a hereditary cause, guides surveillance for new lesions, and informs treatment choices such as targeted therapy or eligibility for clinical trials.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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