TEK

Chr 9

TEK receptor tyrosine kinase

Also known as: CD202B, GLC3E, TIE-2, TIE2, VMCM, VMCM1

NCBI Gene: 7010ENSG00000120156UniProt: Q02763

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDominantly inherited venous malformations
UniProtGlaucoma 3, primary congenital, E

Clinical highlights

Gene-disease validity (ClinGen)
TEK-related primary glaucoma · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.
3
Active trials
196
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.18
LOEUF· LoF intol.
Multiple*
Mechanism· G2P
📖
GeneReview available — TEK
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.18LOEUF
pLI 1.000
Z-score 6.49
OE 0.09 (0.04–0.18)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.35Z-score
OE missense 0.84 (0.78–0.91)
501 obs / 593.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.09 (0.04–0.18)
0≤0.351.4
Missense OE?0.84 (0.78–0.91)
0≤0.61.4
Synonymous OE?1.28
0≤1.21.6
LoF obs/exp: 5 / 58.6Missense obs/exp: 501 / 593.5Syn Z: -3.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TEK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients