TIE1 Chromosome 1
Tyrosine kinase with immunoglobulin like and EGF like domains 1
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What This Gene Does
This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"Receptor tyrosine kinases|Fibronectin type III domain containing|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000066056
Associated Conditions (1)
Lymphatic malformation 11
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139244400 | Health Risk | Pathogenic | Lymphatic malformation 11, Lymphatic malformation 11 |
| RS34993202 | Health Risk | Pathogenic | Lymphatic malformation 11, Lymphatic malformation 11 |