TEK Chromosome 9
TEK receptor tyrosine kinase
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What This Gene Does
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. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|Fibronectin type III domain containing|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
9p21.2
Ensembl
ENSG00000120156
Associated Conditions (20)
Glaucoma 3
primary congenital
E
Multiple cutaneous and mucosal venous malformations
Inborn genetic diseases
primary infantile
B
Abnormal cardiovascular system morphology
Segmental undergrowth associated with venous malformation without capillary component
Vascular malformation
Neutropenia
severe congenital
2
autosomal dominant
TEK-related disorder
Venous malformation
Bockenheimer syndrome
Blue rubber bleb nevus
Ventricular septal defect
Vascular skin disorders
Key Variants
RS138463877
Conflicting classifications of pathogenicity
Glaucoma 3, primary congenital, E
Health Risk
RS141769154
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Glaucoma 3, primary congenital
Health Risk
RS143178677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146169480
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Glaucoma 3, primary infantile
Health Risk
RS1554701458
Conflicting classifications of pathogenicity
Abnormal cardiovascular system morphology, Segmental undergrowth associated with venous malformation without capillary component, Vascular malformation
Health Risk
RS200574110
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations
Health Risk
RS200857533
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations
Health Risk
RS376225163
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, TEK-related disorder, Multiple cutaneous and mucosal venous malformations
Health Risk
RS547805462
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS572527340
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, TEK-related disorder, Inborn genetic diseases
Health Risk
RS746069957
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations
Health Risk
RS752000002
Conflicting classifications of pathogenicity
Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138463877 | Health Risk | Conflicting classifications of pathogenicity | Glaucoma 3, primary congenital, E |
| RS141769154 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Glaucoma 3, primary congenital |
| RS143178677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146169480 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Glaucoma 3, primary infantile |
| RS1554701458 | Health Risk | Conflicting classifications of pathogenicity | Abnormal cardiovascular system morphology, Segmental undergrowth associated with venous malformation without capillary component, Vascular malformation |
| RS200574110 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations |
| RS200857533 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations |
| RS376225163 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, TEK-related disorder, Multiple cutaneous and mucosal venous malformations |
| RS547805462 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS572527340 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, TEK-related disorder, Inborn genetic diseases |
| RS746069957 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations |
| RS752000002 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations |
| RS764880845 | Health Risk | Conflicting classifications of pathogenicity | Multiple cutaneous and mucosal venous malformations, Inborn genetic diseases, Multiple cutaneous and mucosal venous malformations |
| RS1043662739 | Health Risk | Likely pathogenic | — |
| RS1380793724 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS1587545234 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS1825511679 | Health Risk | Likely pathogenic | Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations |
| RS1826003461 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2131119729 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2131141182 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2131207174 | Health Risk | Likely pathogenic | — |
| RS2131207249 | Health Risk | Likely pathogenic | — |
| RS2131246743 | Health Risk | Likely pathogenic | Segmental undergrowth associated with venous malformation without capillary component, Segmental undergrowth associated with venous malformation without capillary component |
| RS2131246761 | Health Risk | Likely pathogenic | Segmental undergrowth associated with venous malformation without capillary component, Segmental undergrowth associated with venous malformation without capillary component |
| RS2131266023 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2131267739 | Health Risk | Likely pathogenic | Venous malformation, Venous malformation |
| RS2488964683 | Health Risk | Likely pathogenic | — |
| RS2488989309 | Health Risk | Likely pathogenic | Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations |
| RS2489001347 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2489010435 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2489035762 | Health Risk | Likely pathogenic | Multiple cutaneous and mucosal venous malformations, Multiple cutaneous and mucosal venous malformations |
| RS2490101786 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2490102018 | Health Risk | Likely pathogenic | Glaucoma 3, primary congenital, E |
| RS2490182528 | Health Risk | Likely pathogenic | — |
| RS1825070895 | Health Risk | Pathogenic | — |
| RS1825073624 | Health Risk | Pathogenic | — |
| RS1825682849 | Health Risk | Pathogenic | Bockenheimer syndrome, Abnormal cardiovascular system morphology, Vascular malformation |
| RS1826418572 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations, Abnormal cardiovascular system morphology |
| RS1826462356 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations, Abnormal cardiovascular system morphology |
| RS1826463406 | Health Risk | Pathogenic | Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations, Abnormal cardiovascular system morphology |
| RS2131227936 | Health Risk | Pathogenic | Multiple cutaneous and mucosal venous malformations, Vascular malformation, Multiple cutaneous and mucosal venous malformations |
| RS2131239517 | Health Risk | Pathogenic | — |
| RS2131246864 | Health Risk | Pathogenic | — |
| RS2131267744 | Health Risk | Pathogenic | Vascular malformation, Vascular malformation |
| RS2489035766 | Health Risk | Pathogenic | Multiple cutaneous and mucosal venous malformations, Vascular malformation, Multiple cutaneous and mucosal venous malformations |
| RS541217363 | Health Risk | Pathogenic | Glaucoma 3, primary congenital, E |
| RS753021890 | Health Risk | Pathogenic | Glaucoma 3, primary congenital, E |
| RS80338908 | Health Risk | Pathogenic | Multiple cutaneous and mucosal venous malformations, Segmental undergrowth associated with venous malformation without capillary component, Abnormal cardiovascular system morphology |
| RS80338909 | Health Risk | Pathogenic | Multiple cutaneous and mucosal venous malformations, Blue rubber bleb nevus, Multiple cutaneous and mucosal venous malformations |
| RS1825682922 | Health Risk | Pathogenic/Likely pathogenic | Abnormal cardiovascular system morphology, Vascular malformation, Multiple cutaneous and mucosal venous malformations |