Gene: TEK

Alternate names for this Gene: CD202B|GLC3E|TIE-2|TIE2|VMCM|VMCM1

Gene Summary: This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.2

Description of this Gene: TEK receptor tyrosine kinase

Type of Gene: protein-coding

rs2273720 in TEK gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1322052 in TEK gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs146169480 in TEK gene and GLAUCOMA 3, PRIMARY CONGENITAL, E PMID 27270174 2016 Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

rs202131936 in TEK gene and Leukemia, Myelocytic, Acute PMID 19340004 2009 Functional characterization of an activating TEK mutation in acute myeloid leukemia: a cellular context-dependent activating mutation.

rs73643144 in TEK gene and Mental deterioration PMID 28078323 2017 Genetic architecture of age-related cognitive decline in African Americans.

rs387906745 in TEK gene and VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL PMID 10369874 1999 Allelic and locus heterogeneity in inherited venous malformations.

PMID 8980225 1996 Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.

PMID 19888299 2010 Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.

PMID 19079259 2009 Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.