GeneID: 64



Names

Common Name: TEK Type: Gene
Chromosome: 9 (NC_000009.12) Locus: NG_011828.1 (TEK)
HUGO Symbol: TEK Full Name: TEK receptor tyrosine kinase
Exons: 23 Introns: 22

Description:
TEK (also referred to as TIE2) is a member to the TIE family of tyrosine kinase receptors. It is preferentially expressed in endothelial cells and responds to stimuli by angiopoietins to regulate the development and remodeling of the vascular system. It is also involved in haematopoietic development. The extracellular region of this receptor is unique, composed of two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The intracellular domain is a tyrosine kinase. The TEK signalling pathway is initiated upon angiopoietin binding with subsequent receptor dimerization and autophosphorylation of specific tyrosine residues, which serve as binding sites for downstream effector molecules that in turn activate signalling pathways involved in several cellular processes including growth, differentiation, migration and survival. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Polymorphisms in this gene associated with stroke and leg ulceration in sickle cell patients. Alternative splicing results in multiple transcript variants.

Synonyms: CD202b , TIE-2 , TIE2 , VMCM1 , VMCM

Comments:
N/A

Number of entries/variants: 2

IthaScore

Sequence Viewer

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Publications / Origin

  1. Nolan VG, Adewoye A, Baldwin C, Wang L, Ma Q, Wyszynski DF, Farrell JJ, Sebastiani P, Farrer LA, Steinberg MH, Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway., Br. J. Haematol. , 133(5), 570-8, 2006 PubMed
  2. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed
  3. Khan AA, Sandhya VK, Singh P, Parthasarathy D, Kumar A, Advani J, Gattu R, Ranjit DV, Vaidyanathan R, Mathur PP, Prasad TS, Mac Gabhann F, Pandey A, Raju R, Gowda H, Signaling Network Map of Endothelial TEK Tyrosine Kinase., J Signal Transduct , 2014(0), 173026, 2014 PubMed
Created on 2016-04-26 11:22:38, Last reviewed on 2016-04-26 11:26:21 (Show full history)


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