TEK TEK receptor tyrosine kinase
Gene ID: 7010, updated on 24-Sep-2024Gene type: protein coding
Also known as: TIE2; VMCM; GLC3E; TIE-2; VMCM1; CD202B
- See all available tests in GTR for this gene
- Go to complete Gene record for TEK
- Go to Variation Viewer for TEK variants
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. [provided by RefSeq, Feb 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glaucoma 3, primary congenital, E | See labs |
| Glaucoma 3, primary infantile, B | See labs |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Multiple cutaneous and mucosal venous malformations | See labs |
Genomic context
- Location:
- 9p21.2
- Sequence:
- Chromosome: 9; NC_000009.12 (27109225..27230174)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TEK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TEK database
- Variation ViewerRelated Variants
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